Journal of the IAP Karnataka State Branch CONTENTS

Transcription

Karnataka Paediatric Journal
Vol. 25, No. 2 Apr. - June 2011
Karnataka Paediatric Journal Vol. 25, No. 2 Quarterly ; Apr. - June 2011
Journal of the IAP
Karnataka State Branch
CONTENTS
PAGE No.
1. Minutes of the 2nd Executive Committee meeting of IAP-KSB 2011 held on 31-07-2011
3
2. APPROACH TO MANAGEMENT OF SECONDARY HYPERTENSION IN CHILDREN
Vikram Singhal, Sucheta Rao, Nutan Kamath
4
3. OLIVOPONTOCEREBELLAR ATROPHY A RARE NEUROLOGICAL DISORDER.
Dr. Georgia, Dr.K.Shreedhara Avabratha, Dr.Habib Khan,Dr.B.Sanjeeva Rai, Dr.B Suresh
9
4. SMALL VESSEL VASCULITIS OF CENTRAL NERVOUS SYSTEM PRESENTING AS
REFRACTORY FOCAL SEIZURES-A CASE REPORT
Poppy Chadda, K Shreedhara Avabratha,Habib Khan,B.Sanjeev Rai and H B Suresh
5. RARE ASSOCIATION 0F POLANDS SYNDROME WITH DEXTROCARDIA
Dr. N.Rashmi; Dr. Narayanappa.D
12
15
6. A RARE BLISTERING DISEASE IN A NEWBORN
17
James Daniel S, K Shreedhara Avabratha, Elizabeth Varkey Cherian, B Sanjeev Rai, Ramesh Bhat
7. STEVENS-JOHNSON SYNDROMEA CASE REPORT
Dr. R.K. Jagadish Kumar, Dr. H.C. Krishna Kumar, Dr. Pawan Kumar, Dr. V.G. Manjunath, Dr. S. Mamatha
8. CASE REPORT - BIOTINIDASE DEFICIENCY IN INFANCY
Dr.Rajashekar Murthy G.V , Dr Sanjay K.S. , Dr.Bharath Kumar Reddy K.R.
9. CASE REPORT: SCHIZENCEPHALY TYPE I A CAUSE FOR STROKE IN CHILDREN
Dr Sanjay K.S, Dr Rajashekar Murthy G, Dr Bharath Kumar Reddy K.R
20
24
26
10. NEONATAL POLYCYTHEMIA A HOSPITAL BASED STUDY
Dr.Narayanappa.D, Dr.N.Rashmi, Dr.Mohan B.K
28
11. CONGENITAL EMPHYSEMA: A CASE REPORT
Roopa.Mangshetty. Sharangouda Patil. Shrikanth.S.W. Hosgouda K
12. HYPOTHYROIDISM & NEPHROTIC SYNDROME A CAUSE OR EFFECT ?
Nithya T, B Sanjeev Rai, Habib Ullah Khan, Aby Dany Varghese
13. COMMON PITFALLS IN DIAGNOSING RENAL PROBLEMS IN CHILDREN - Dr Arpana Iyengar
14. EVALUATION OF A CHILD WITH POLYURIA - Dr. Nagamani Agarwal
15. APPROACH TO ANTENATALLY DETECTED HYDRONEPHROSIS - Dr. R. Premalatha
34
EDITORIAL BOARD
EDITOR :
DR. B. SANJEEV RAI
MEMBERS :
DR. HABEEB KHAN
DR. RAMANATH MAHALE
DR. SUBRAMANYA NK
EDITORIAL OFFICE
Medicare Centre
Karangalpady, Mangalore - 575 003
Ph : (0824) 2238399 (O),
Fax : (0824) 2430361
E-mail : raibs11@gmail.com
Mob. : 94481-33494
DR. PUSHPA KINI
DR. SANTHOSH SOANS
1
DR. SUDARSHAN S
DR.KARUNAKAR BP
36
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40
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Vol. 25, No. 2 Apr. - June 2011
INDIAN ACADEMY OF PEDIATRICS
Karnataka State Branch
Society Reg No: EKM – S460-2006-2007
OFFICE BEARERS FOR THE YEAR 2011
President
Dr. R.T. Patil
Secretary
Dr. Ashok V. Badakali
Treasurer
Dr. P. Subba Rao
President Elect
Dr.Suresh Babu
Bagalkot Mob: 9845365795 Bagalkot Mob: 9880227403 Magalore Mob: 9845872653 Davangere Mob: 9844096775
Historian
Joint Secretary
Editor K.P.J.
Dr. Santosh Soans
Dr. Pavan Hegde
Dr. B. Sanjeev Rai.
Mangalore. Mob: 9343565558
Mangalore. Mob: 9845088116 Mangalore. Mob :9448133494
Executive Board Members
Bagalkot
:
Dr. R. N. Vanaki
Bangaluru
:
Dr. Basavaraj G. V.
Belgaum
:
Dr. Shailesh Patil
Bellary
:
Dr. Kailash Soni
Bidar
:
Dr. Somashekhar Bhalke
Bijapur
:
Dr. M. M. Patil
Chikkamangalur
:
Dr. Sundaresh
Chitradurga
:
Dr. Natraj
Dakshina Kannada
:
Dr. Prasad Naik
Davanagere
:
Dr. Naveen Nadig
Dharwad
:
Dr. Sudhindra
Gadag
:
Dr. Vijay Neelgund
Hassan
:
Dr. Dinesh
Kodagu
:
Dr. Krishnanand
Haveri
:
Dr. Rajkumar Marol
Kolar
:
Dr. J. Krishnappa
Kollegal
:
Dr. Sridhar M.
Koppal
:
Dr. Anand Kumar
Mandya
:
Dr. Narendrababu
Mysore
:
Dr. Shrinivas Murthy
Raichur
:
Dr. Balasubramanya
Shimoga
:
Dr. Deepak Chirdoni
Tumkur
:
Dr. Shivaprakash
Udupi
:
Dr. Shrikiran
Uttar Kannada
:
Dr. Dinesh Hegde
Central Council Executive Board Members
Dr. Devraj Raichur.
Mob : 9449864828
Dr. Karunakar B.P.
Mob : 9845263322
Dr. Dinesh S.R.
Mob : 9448006166
Zonal Coordinators
Bangaluru
:
Dr. Subramanya N. K
Dharwad
:
Dr. Vijay Kulkarni
Gulbarga
:
Dr. Arundathi Patil
Davanagere
:
Dr. Deepak Chirdoni
Mysore
:
Dr. Narayanappa
Ex – Officio’s
Dr. K. Doddegowda
Dr. S. R. Dinesh
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Vol. 25, No. 2 Apr. - June 2011
Minutes of the 2nd Executive Committee meeting of
IAP-KSB 2011 held on 31-07-2011
The second EC meeting of IAP-KSB was held in Hotel Atriya, Bangaluru on 31th July
2011 during the 29th Annual CME programme of Lakeside Education Trust. Around 36
members were present.
The President Dr. R. T. Patil chaired the meeting and Dr. Ashok Badakali took the
charge of the proceeding of the meeting. Dr. R.T. Patil welcomed the office beares of IAP-KSB.
Dr. Ashok Badakali read the minutes of the last EC meeting held on 13.03.2011 at
Mangalore. Dr. T.U. Sukumaran National President of IAP was also present during the
meeting and seeked the members to conduct more academic activities and register under
family benefit scheme. Dr. (Smt) Mahantishetty N.S. state co-ordinator for NRP programme
briefed and requested zonal co-ordinator, district co-ordinator and trainer of trainers (TOTs)
to conduct the Basic Neonatal Resuscitation Provider course in each districts as to fulfill the
IAP presidents action plan for the year 2011. Dr. Ashok Badakali read out various sub
committees. Dr. Gyanmurty and Dr. Basavaraj expressed tenure of sub committees should be
five years however all members expressed tenure should be decided at next G.B. meeting. Dr.
Deepak C.E. converner of IAP-Directory discussed how to make IAP-KSB directory and
financial assistance to IAP-KSB directory. Organizing Secretary Dr. Ramesh Pol informed all
the members that state conference will be held in Bagalkot on 14th to 16th October 2011. He
gave list of topics and the faculties, which was approved by the members.
Dr. Subramanya and Dr. Shrinath Mugali (Election Commissioner of IAP) expressed that
according to election code of conduct the person who is contesting for election are not
supposed become a faculty for IAP Conferences and other scientific activities. Dr. Subbra
Rao gave the quarterly account of IAP-KSB and showed positive balance of Rs. 29, 13,438/
-Dr. Sanjeev Rai told about the new design of KPJ and all the members were happy about
new design, he also suggested including sub-specialty series in KPJ and announced that
KPJ is now indexed journal but not indexed with pubmed and sought more articles from
medical colleges, practitioners and sub specialty chapters.
Dr. Subramanya has been nominated by central IAP as in charge for designing new
teaching slides for under graduates and post graduates.
Dr. Karunakar B.P. briefed on the minutes of EB meeting of central IAP held in June at
Cochin.
Dr. Ashok Badakali secretary IAP-KSB proposed the vote of Thanks.
Dr. R.T. Patil
President
IAP KSB - 2011
Dr. Ashok Badakali
Secretary
IAP KSB 2011
3
Vol. 25, No. 2 Apr. - June 2011
APPROACH TO MANAGEMENT OF SECONDARY
HYPERTENSION IN CHILDREN
*Vikram Singhal, Sucheta Rao, Nutan Kamath
Hypertension is defined as
averagesystolic and/or diastolic pressure
>95th percentile for gender, age and height
on >3occasions.In developed countries, the
estimated prevalence in children is 1%2%.Surveys suggest a prevalence of 2%-5%
in Indian school children. Hypertension in
children can be essential (primary) or
secondary (identifiable underlying cause). A
secondary etiology may be suggested by
symptoms,examination
findings
or
laboratory abnormalities. Up to 85 percent of
children with hypertension have an
identifiable cause, most often renal
parenchymal disease. Anage-based approach
to the differential diagnosis is recommended.
The ABCDE mnemonic can be used to
help determine a secondary cause of
hypertension
TABLE I Causes of Secondary Hypertension in Different Age Groups
Age
Causes#
Newborns
Renal artery thrombosis, renal artery stenosis, Congenital
malformation, coarctation of aorta,
Bronchopulmonary dysplasia
Infancy-6 yr
Renal parenchymal disease(Chronic glomerulonephritis,
reflux nephropathy, obstructive uropathy, polycystic kidney
disease), renal artery stenosis , Coarctation of aorta
6-10 yr
Renal artery stenosis, Renal parenchymal disease.
Adolescence
#__Others causes
Renal parenchymal disease
Endocrine: Pheochromocytoma, cushing syndrome, congenital adrenal hyperplasia,
primary hyperaldosteronism, Liddles syndrome, neuroblastoma
Renal tumors: Wilms tumor, nephroblastoma
Drugs: ibuprofen, naprosyn, peudoephedrine, carbamazepine, cyclosporine, tacrolimus,
methyl prednisolone, prednisolone, fludrocortisone, erythropoietin
A: ACCURACY, ALDOSTERONISM
encircle at least 80-100% of the armand the
bladder length should be >40% ofthe arm
circumference. Measurements should betaken
after 3 to 5 minutes of resting.White-coat
hypertension (blood pressure that is elevated
in the physicians office but normal at other
times) accounts for about 20 percent of
patients
with
elevated
readings.
Accuracy
The first step in diagnosing an
elevated blood pressure reading is to
investigate its accuracy. An inappropriate
blood pressure cuff for age or tight-fitting
sleeves that are not removed can give
falsely wrong readings. The cuffshould
* Department of Pediatrics, Kasturba Medical College, Mangalore, Manipal University.
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Vol. 25, No. 2 Apr. - June 2011
Appropriate charts with blood pressure
ranges based on gender, age, and height
percentilesfor children should be used.
Cushings Syndrome
Cushings syndrome can cause
hypertension via the mineralocorticoid effects
of excess glucocorticoids.
Aldosteronism
Primary hyperaldosteronism is
defined as overproduction of aldosterone
independent of its usual regulator the reninangiotensin system.
D: DRUGS, DIET
Drugs
Many prescription and nonprescription
drugs can cause or exacerbate hypertension
Eg. ibuprofen, naprosyn, peudoephedrine,
carbamazepine, cyclosporine, tacrolimus,
methyl prednisolone, prednisolone,
fludrocortisone, erythropoietin
B: BAD KIDNEYS, BRUITS
Bad Kidneys
Renal parenchymal disease can be a cause
or consequence of hypertension. The renal
damage decreases the kidneys ability to
excrete salt and excess fluid (resulting in a
low renin state, as opposed to the high
renin state found in renovascular
hypertension).
Diet
Excess consumption of dietary sodium
is linked to chronic hypertension.Obesity
also can cause hypertension.
Bruits
E: ENDOCRINE DISORDERS
Renovascular hypertension results
from compromised arterial supply to the
kidneys and about 50% of patients have an
abdominal
bruit
identifiable
on
examination.
Endocrine Disorders
Hypothyroidism induces decreased
cardiac output with a compensatory increase
in vascular tone, resulting in rise in diastolic
blood pressure whereas hyperthyroidism
induces increased cardiac output and
compensatory decreased vascular tone,
causing a greater increase in systolic blood
pressure.
C: COARCTATION, CATECHOLAMINES,
CUSHINGS SYNDROME
Coarctation of the Aorta
Coarctation of the aorta the second
most common cause of hypertension in
children, is more common in boys. In
neonates coarctation may present acutely as
congestive heart failure, but it is usually
diagnosed in children with the onset of
hypertension, difference between upper limb
and lower limb pulses or a cardiac
murmur.
Hyperparathyroidism (primary or
secondary to chronic renal insufficiency) is a
potentially reversible cause of hypertension.
However, only 30 to 40 percent of patients
with hyperparathyroidism have hypertension,
and parathyroidectomy does not reliably
resolve hypertension in patients with this
disorder.
Catecholamines
In pheochromocytoma,the symptoms
can vary depending on the types of
catecholamines being produced, the amount
and frequency of their release into the
circulation.
Excess catecholamine levels play a
role in white-coat hypertension and
pheochromocytoma. Acute stress induces
catecholamine release and often contributes
to hypertension.
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Vol. 25, No. 2 Apr. - June 2011
Figure 1: Algorithmic approach to evaluation of child with hypertension
Suspected Hypertension
Check for
• Proper cuff size
• White Coat Hypertension
Confirm Hypertension
Detailed History
Clinical Examination
Full blood count ,Serum electrolytes, uric
acid, renal function tests,Fasting lipid
profile,Urinalysis,Renal ultrasound
Abnormal urinalysis
Gradient between Upper and Lower limb
Coarctation of Aorta- MRI
Transthoracic Echocardiography
Predominant RBC
Predominant WBC
Reflux Nephritis
Urinary Tract Infection- Dimercaptosuccinic
acid,
DiethylenetriaminePentaacetic Acid,
Micturatingcystourethrogram,
Renal anomaly
Endocrine
Acute Glomerulonephritis
Lupus nephritis
Henoch Schonlein Purpura
Renal Vein Thrombosis
Calculi,Infections
Renovascular lesion
Thyroid- Thyroid stimulating hormone Computed tomography angiography
Aldosteronism-Renin angiotensin activity Doppler ultrasonography of renalPheochromocytoma24-hour urinary
arteries
fractionated
MRI with gadolinium contrast media
metanephrines
Plasma free metanephrines
Cushing syndrome- 24-hour urinary cortisol
Low-dose dexamethasone
Suppression
Congenital adrenal- 17-OH Progesterone
Essential hypertension
hyperplasia
6
Vol. 25, No. 2 Apr. - June 2011
Treatment
•
It is imperative to differentiate
primary from secondary hypertension as
treatment of the underlying cause of
secondary hypertension canoften normalize
the blood pressure.
The choice antihypertensive drugs
depend on the underlying cause.
Initial treatment with Calcium
channel blockers (CCB) or beta adrenergic
blockers (BB) or Angiotensin converting
enzyme inhibitor(ACEi)
Principles of treatment
•
•
•
•
Weight loss- Reduction of BMI by 10%
is reported to lead to 8-12 mm Hg fall
in blood pressure.
The goal for treatment is reduction of
blood pressure to levels <95th
percentile, unless comorbid conditions
or target-organ damage is present,
when it should be lowered to
<90thpercentile of expected age, sex and
height of the child
If BP continues to be >95th centile:
Usecombination therapy - ACEi +
CCB or ACEi +Thiazides or CCB + BB.
(Watch
for
bradycardiawhen
combining BB and CCB)
Therapy is initiated with one agent, at
an appropriate dose and the dose is
increased until the desired blood
pressure is achieved. If the highest dose
is not effective or if there are side
effects, a drug from a different class is
added or substituted
If BP continues to be >95th centile:
Add thirdagent - ACEi + CCB + Diuretic/
BB.
Otheragents: prazosin, clonidine,
hydralazine.
Choice of drugs according to the cause
ofhypertension
Medications with a longer duration of
action (once, twice daily dosing) are
preferred forbetter compliance and
reduced side effects
Dose adjustment of antihypertensive
medications can be made every 2-3
days.
•
Acute glomerulonephritis :Loop diuretic
+ CCB or ACEi
•
Renovascular hypertension: CCB+
diuretic
Lifestyle modifications
A BB instead of a CCB if ventricular
function is normal ormildly deranged
•
Dietary changes- Recommendations for
daily sodium intake range between 11.5 g.
•
•
Physical exercise- 30-60 minutes or
more of physical activity every day that
is developmentally appropriate,
enjoyable and involving a variety of
activities
Chronic kidney disease:CCB, ACEi or
BB
If two drugs are required, the ACEi
(or BB) should be combined with a CCB.
Drug step-down:It might be possible
in overweight children who have lost
sufficient weight and also in patients in
whom aspecific intervention has treated the
underlyingcause for hypertension.
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Vol. 25, No. 2 Apr. - June 2011
TABLE II Choice of Antihypertensive Drugs
Drug
Dose initial
Maximum
Nifedipine
0.25 mg/kg
0.5 mg/kg
Sodium nitroprusside
0.5 µg/kg/min IV
Labetalol
1 mg/kg/hr IV, can be given 3 mg/kg/hr IV
Hypertensive emergencies
8 µg/kg/min IV
as bolus or steady infusion
Long-term therapy
Captopril Neonates
0.03 mg/kg/d
2 mg/kg/d
children
1.5 mg/kg/d
6 mg/kg/d
Enalapril
0.15 mg/kg/d
0.6 mg/kg/d
Losartan
0.7 mg/kg/d
1.4 mg/kg/d
Extended-release nifedipine
0.25 mg/kg/d
3 mg/kg/d
Amlodipine
0.1 mg/kg/dose
0.6 mg/kg/d
Propranolol
1 mg/kg/d
8 mg/kg/d
Atenolol
1 mg/kg/d
8 mg/kg/d
Prazosin
0.05-0.1 mg/kg/d
0.5 mg/kg/d
Minoxidil
0.1-0.2 mg/kg/d
1 mg/kg/d
Hydrochlorothiazide
1 mg/kg/d
2-3 mg/kg/d
Furosemide
1 mg/kg/d
12 mg/kg/d
(maximum 20 mg/d)
Further Reading:
1.
Children. Indian Pediatr 2009; 46: 310338.
Bagga A, Jain R, Vijayakumar M,
Kanitkar M, Ali U. Evaluation and
management of hypertension. Indian
Pediatr 2007; 44: 103-121.
2.
Gulati S. Childhood Hypertension.
Indian Pediatr 2006; 43: 326-333.
3.
Working Group on Management of
Congenital Heart Diseases in India.
Drug Therapy of Cardiac Diseases in
8
4.
Anthony J. V. , Dana M. N. Diagnosis
of Secondary Hypertension: An AgeBased
Approach.
Am
Fam
Physician.2010;82(12):1471-1478.
5.
Edward O.Diagnosing Secondary
Hypertension.Am Fam Physician.2003;67(1):
67-74.
Vol. 25, No. 2 Apr. - June 2011
OLIVOPONTOCEREBELLAR ATROPHY A RARE
NEUROLOGICAL DISORDER.
*Dr. Georgia, Dr.K.Shreedhara Avabratha, Dr.Habib Khan,Dr.B.Sanjeeva Rai, Dr.B Suresh
Abstract
Case
An 8 month old infant was brought
with history of developmental delay and not
fixing or following objects. Infant had
microcephaly and generalized hypotonia.
Remaining general physical examination
and systemic examination was unremarkable.
Developmental assessment showed global
developmental delay with developmental
age corresponding to less than 2 months.
Oto-acoustic emissions showed bilateral
hearing loss. Ophthalmology evaluation to
rule out neurometabolic disorders revealed
normal pupils, cornea and fundus. MRI
scan features were suggestive of
olivopontocerebellar atrophy (OPCA).
An 8 month old male baby presented
with history of developmental delay and not
fixing or following objects. Baby was born to
nonconsanguineous parents as fullterm
vacuum delivery. There was no history of
birth asphyxia. Developmental history
revealed global developmental delay with
developmental age corresponding to less
than 2months. On examination baby
weighed 5.75kg, Length-61cm, and Head
circumference-42cm (microcephaly). Baby
was afebrile with normal heart rate and
respiratory rate. Anterior fontanelle was
open (3x2 cm) and convergent squint was
present. Facies was normal. Head lag was
present and hypotonia was noticed in all
four limbs. Deep tendon reflexes were brisk.
Cardiovascular, respiratory and abdominal
examinations were normal.
Key words
Hypotonia, Hearing loss, Olivopontocerebellar
atrophy.
Introduction
Blood counts, liver function tests
and renal function test were within normal
limits. ABG analysis, urine metabolic
screening, and ophthalmology evaluation
were done to rule out neurometabolic
disorders. ABG analysis was normal. Urine
for metabolic screening was negative.
Ophthalmology assessment revealed normal
pupils, cornea and fundus. Otoacoustic
emissions showed bilateral hearing loss.
MRI scan of brain showed prominence
of the cerebellar folia, fourth ventricle
and cerebellopontine angle cisterns
suggestive of cerebellar atrophy. The
prepontine and perimedullary cisternal
spaces were prominent with reduction
in the size of the pons. Features were
suggestive of olivopontocerebellar atrophy.
Olivopontocerebellar atrophy (OPCA)
is a term coined by Dejerine and Thomas
which comprises a series of heterogenous
diseases whose only common factor is the
loss of neurons in the ventral portion of the
pons, inferior olives and cerebellar cortex1.
There may be neuronal loss to a variable
degree in the spinal cord, cerebral cortex
and basal ganglia. Clinically they manifest
as progressive cerebellar ataxia, tremor,
speech impairment, and in some instances,
marked extrapyramidal signs, cranial nerve
palsies, and peripheral neuropathy2. It is
rare in childhood and very few present in
the first year of life3. We report an 8 month
old baby with OPCA presenting with global
developmental delay for its rarity.
* Dept of Pediatrics and Radiology*, Fr.Muller Medical College Mangalore-575002.
9
Vol. 25, No. 2 Apr. - June 2011
Discussion
well described in adults and to a lesser
extent in older children. Notable features in
sporadic and the familial forms of OPCA
are the extensive degeneration of the middle
cerebral peduncles, the cerebellar white
matter, and the pontine, olivary, and arcuate
nuclei. Loss of purkinje cells has been
variable. Most likely this degeneration
represents a terminal dying back of axons
of the pontine and olivary nuclei with
secondary myelin degeneration. The extreme
atrophy of the medullary olivary nuclei
virtually identifies the process and is
evident on MRIs5. Though
we couldnt
do all the biochemical investigations in our
case, MRI features were suggestive of
OPCA.
In 1970, Konigsmarkand Weiner 4
classified OPCA into five types, type II
being of recessive or sporadic
inheritance, the other types being
autosomal dominant. It is now generally
accepted that it is not a single disease, but
is the result of a number of clinically and
genetically separate conditions. The first
report
of
neonatal
onset
of
olivopontocerebellar atrophy with systemic
features was by Agamanolis et al4 in 1986.
They described a brother and sister
with the condition and suggested that it
may have been caused by a primary
lipoprotein disorder. Harding et al 4, two
years later, noticed
low
serum
concentrations of thyroid binding
globulin and ceruloplasmin in the two
cases that they reported, thus raising
the possibility of an abnormality of
glycoproteins. A less severe disorder has
been described in recent years with many
features in common with olivopontocerebellar
atrophy of neonatal onset including failure
to thrive, developmental delay, hypotonia,
retinal abnormalities, liver disease, joint
restrictions, pericardial effusions, and
cerebellar hypoplasia or atrophy. This has
been named disialotransferrin developmental
deficiency (DDD) syndrome or carbohydrate
deficient glycoprotein syndrome4.
Fig. A
Recently, a putative biochemical
defect has been identified in some patients
with recessive or sporadic OPCA, which is
the deficiency of the enzyme glutamate
dehydrogenase which is involved in the
metabolism of the excitatory neurotransmitter
glutamate 4 . Other neurotransmitter
abnormalities have been described in
dominant OPCA3.
The diagnosis of olivopontocerebellar
atrophy rests primarily on morphological
evidence of degeneration of the cerebellar
cortex and its afferent pathways; it has been
Fig. B
10
Vol. 25, No. 2 Apr. - June 2011
Fig.A.MRI-Axial T2 weighted imaging
shows cerebellar and medullary atrophy
with prominent CSF spaces. Fig.B.MRISagital T1 weighted imaging shows atrophy
of pons,medulla and cerebellum and
prominent CSF spaces.
There is no specific treatment or cure for
this disease. Therapy is aimed at treating
symptoms and preventing complications.
This may include speech and physical
therapy, techniques to prevent choking,
walking aids to help with balance and
prevent falls.
In conclusion OPCA is a rare CNS
disorder with varied clinical manifestations
and characteristic MRI findings. This entity
should be considered whenever such
features are encountered.
REFERENCES
1.
2.
Menkes J H, Heredodegenerative
diseases, Child Neurology, 7th edition,
Lippincot Williams and Wilkins,
Philadelphia, 2006:182-184
3.
B N Harding, D B Dunger, D B Grant,
Familial olivopontocerebellar atrophy
with neonatal onset: a recessively
inherited syndrome with systemic and
biochemical abnormalities, Journal of
Neurology, Neurosurgery and
Psychiatry 1988;51:385-390
4.
S P Horslen, P T Clayton, B N
Harding et al, Olivopontocerebellar
atrophy of neonatal onset
and
disialotransferrin developmental
deficiency syndrome, Archives of
Disease in Childhood 1991;66:10271032
Allan H.Ropper, Degenerative Diseases Of
The Newborn, Adams and Victors Principles
Of Neurology, Principles of Neurology,
Eighth edition, McGraw-Hill, New York
2005:935-936
S Choi, M S Lee, W T Kim et al,
Olivopontocerebellar atrophy. Yonsei
Medical Journal 1988;29:233-237
11
Vol. 25, No. 2 Apr. - June 2011
SMALL VESSEL VASCULITIS OF CENTRAL NERVOUS
SYSTEM PRESENTING AS REFRACTORY FOCAL
SEIZURES-A CASE REPORT
*Poppy Chadda, K Shreedhara Avabratha,Habib Khan,B.Sanjeev Rai and H B Suresh
Abstract:
Eight year old boy presented with
refractory focal seizures. Seizures persisted
in spite of second line anticonvulsant
drugs.MRI revealed bilateral cerebral
hemispheric multifocal non enhancing
hyperintense lesions involving the gray
matter and sub cortical white matter. A
diagnosis of small vessel vasculitis of the
central nervous system was made. Child
responded to intravenous methyl
prednisolone followed by oral steroids.
suggesting that the neurological deficits
caused by brain inflammation are
reversible.We report one case who presented
with refractory seizures and diagnosed to
have CNS small vessel vasculitis.
Case :
Eight year old boy presented
with history of six episodes of focal seizures
with secondary generalisation and post ictal
drowsiness in the previous three days.Except
for headache there was no history of
fever,vomiting or trauma.There is no family
history of epilepsy. On examination, he was
afebrile, GCS was 15/15, HR-100/min,BP100/60 mm of Hg,RR-26/min. Systemic
examination was normal and there was no
neurological deficits. Initial blood counts,
blood sugar and serum electrolytes were
within normal limits.CSF analysis was also
normal (CSF glucose-79, protein-16,cells -2
lymphocytes)EEG
showed
left
centrotemporal epileptiform discharges. CT
and MRI of brain showed features of post
ictal oedema. Child was treated with
loading dose of phenytoin followed by
maintainence dose. Seizures subsided for 2
days.
Key words: Central nervous system,
Refractory seizures, Vasculitis.
Introduction:
Childhood primary angiitis of the
central nervous system is a recently
recognised rare inflammatory disease that
causes severe neurological deficits and
unexplained neurological symptoms
including intractable seizures, hemiparesis,
cranial nerve deficits,severe cognitive
deficits and decreased consciousness. There
are two types of childhood primary angiitis
of the CNS: medium-large vessel and small
vessel vasculitis.MRI is a sensitive but not
specific detector of vascular disease but is
certainly valuable in excluding other
conditions. In patients with small vessel
childhood primary angiitis of the CNS,
angiography findings are typically negative
and thus diagnosis must be confirmed by
brain biopsy. Neurological outcome in
patients with small vessel childhood
primary angiitis of the CNS can be
devastating and can result in death.
However, some children with small vessel
disease have shown neurological recovery
after immunosuppressive treatment,
Two days after admission child
developed recurrent focal seizures involving
the left lower limb lasting for 1-2 minutes
every 30-60 minutes, which later became
persistent. Child was put on valproate,
leviteracetam and lamotrigine. Phenytoin
was tapered and stopped. But seizure
activity continued. Carbamazepine and
phenobarbitone was also tried. Midazolam
infusion was also given. However seizure
activity did not subside. A course of
acyclovir was also administered.
* Department of Paediatrics and *Radiology,Father Muller Medical College, Mangalore,
Karnataka,India.
12
Vol. 25, No. 2 Apr. - June 2011
intravenous methyl prednisolone pulse
therapy for 5 days. By the 5th day seizure
activity reduced in intensity and frequency
and child was able to walk. Child was put
on oral steroids and discharged. Seizures
completely subsided within the next one
week.
A repeat MRI done after two weeks
showed bilateral cerebral hemispheric
multifocal non enhancing hyperintense
lesions involving the gray matter and
subcortical white matter (Fig 1
&2).Possibility of small vessel vasculitis was
made. ANA profile was negative. In view of
vasculitis the child was started on
Fig 1
Fig 2
Fig 2 MRI showing focal areas of
hyperintensity involving grey matter and
subcortical white matter which show no post
contrast enhancement
Fig 1 MRI showing bilateral cerebral hemispheric multifocal non enhancing
hyperintense lesions involving grey matter
and subcortical white matter.
large vessel disease affects arteries that are
large enough to be differentiated by
conventional angiography. In patients with
small vessel childhood primary angiitis of
the CNS, angiography findings are typically
negative and thus diagnosis must be
confirmed by brain biopsy. In our case non
response to anticonvulsants and abnormal
EEG prompted us to repeat a MRI.
Repeat MRI at 6 weeks showed
improvement. Steroids were continued for 3
months and then tapered and stopped.MRI
done after 12 weeks showed complete
resolution. Child is being regularly followed
up and anti epileptic drugs are gradually
withdrawn and currently he is on one
antiepileptic drug.
Discussion:
Small vessel childhood primary
angitis of the CNS has been described in a
small number of case reports and case
series, with little information known about
its incidence and age distribution.
Neurological outcome in patients with small
vessel childhood primary angiitis of the
CNS can be devastating and can result in
death. However, some children with small
Primary angiitis of CNS is a curious
and uncommon vasculitis and was first
recorded amongst unknown form of
arteritis by Harbitz in 1922. It is almost
exclusively confined to the brain and less
commonly the spinal cord.
There are two types of childhood
primary angiitis of the CNS: medium-large
vessel and small vessel vasculitis. Medium
13
Vol. 25, No. 2 Apr. - June 2011
vessel disease have shown neurological
recovery after immunosuppressive treatment,
suggesting that the neurological deficits
caused by brain inflammation are reversible.
This recovery contrasts with the irreversible
damage caused by acute ischaemia in
paediatric patients with medium-large vessel
disease.
the problems in recognition and diagnosis,
cerebral vasculitis is a highly treatable
condition for which prompt management
can radically improve the outcome, hence
every attempt should be made to diagnose
the same.
References
A myriad of neurological symptoms,
signs or syndromes can occur in CNS
vasculitis, reflecting the potential for
infarction and ischaemia which may be
micro- or macroscopic, focal, multifocal or
diffuse and affect any part of the brain.
Most accounts of the disorder describe
headaches, focal or generalized seizures,
stroke-like episodes with hemispheric or
brainstem deficits, acute or subacute
encephalopathies, progressive cognitive
changes, chorea, myoclonus and other
movement disorders, and optic and other
cranial neuropathies. In short, there are few
neurological syndromes that are not
consistent with a vasculitic aetiology.
Systemic features such as fever, night
sweats,
livedo
reticularis,
or
oligoarthropathy may also be present but
often are only revealed by direct questioning
of the patient. Our patient presented with
only seizures. The course is commonly acute
or subacute, but chronic progressive
presentations are also well described, as are
spontaneous relapses and remission.
Prospective randomised controlled
trials are understandably difficult because of
the rarity of the condition and the lack of
unifying diagnostic criteria. Retrospective
analyses done in various studies have
emerged significant support for the use of
steroids with or without cyclophosphamide
in confirmed cases.Our child responded
well to intravenous methyl prednisolone,
followed by oral prednisolone. Notwithstanding
14
1)
Hutchinson C, Elbers J,Halliday W etal.
Treatment of small vessel primary CNS
vasculitis in children-an open label
cohort study . Lancet neurology 2010; 9:
107884.
2)
Yaari R, Anselm IA, Szer IS, Malicki
DM, Nespeca MP, Gleeson JG.
Childhood primary angiitis of the
central nervous system: two biopsyproven cases. J Pediatr 2004; 145: 693
97.
3)
Benseler SM, deVeber G, Hawkins C, et
al. Angiography-negative primary
central nervous system vasculitis in
children: a newly recognised
inflammatory central nervous system
disease. Arthritis Rheum 2005; 52:
215967.
4)
Benseler SM, Silverman E, Aviv RI et al.
Primary central nervous system
vasculitis in children. Arthritis Rheum
2006; 54: 129197.
5)
Lanthier S, Lortie A, Michaud J, Laxer
R, Jay V, deVeber G. Isolated angiitis of
the CNS in children. Neurology 2001;
56: 83742.
6)
Matsell DG, Keene DL, Jimenez C,
Humphreys P. Isolated angiitis of the
central nervous system in childhood.
Can J Neurol Sci 1990;17: 15154.
7)
F G. Joseph and N J. Scolding. Cerebral
vasculitis-a practical approach.Practical
Neurology 2002; 2, 8093.
Vol. 25, No. 2 Apr. - June 2011
RARE ASSOCIATION 0F POLANDS SYNDROME WITH
DEXTROCARDIA
* Dr. N.Rashmi; Dr. Narayanappa.D
A 7 year old boy presented to the
OPD with history of chest deformity noticed
since birth. There was no history of
recurrent chest infections, cyanosis or
breathing difficulty. He was born to nonconsanguinously married normal parents.
He was not investigated for the above
complaint anytime earlier. His general
physical examination revealed left sided
depressed hemithorax, with absent areola
and an inverted left nipple (fig 1).
positions of all the organs, which ruled out
situs inversus.
Discussion:
Poland syndrome is a rare congenital
anomaly that was first described by Alfred
Poland in 1841. The incidence ranges from
1:10000 to 1:100000 as reported by different
authors.
The right side of the body is affected
three times more frequently than the left
and it is more common in boys than in
girls. It comprises of different anomalies
principally at musculo-skeletal system,
lungs, heart and kidneys.
There was no associated limb defect
or defective digits on the same side. No
other obvious external anomaly was made
out. Cardiovascular examination revealed a
right sided apex located in the 4 th
intercostal space, with normal heart sounds
and no murmur. Respiratory system showed
decreased intensity of breath sounds over
the left lung fields. Per abdomen was
unremarkeable. Chest X-ray (fig 2) done
showed findings suggestive of dextrocardia
with defective left 2nd, 3rd and 4th ribs, with
normal diaphragms.
Thorax deformity is the most
common feature of this syndrome. It
includes hypoplasia or absence of the
pectoralis minor and the sternal head of
pectoralis major muscles. The defect in the
chest wall is variable with the absence or
rudimentary development of the anterior
portion of 2, 3, 4, 5th ribs and their costal
cartilages. Breast together with nipple can
be absent or underdeveloped. Ipsilateral
hand anomalies can be seen as
brachydactyly, syndactyly or ectrodactyly
2D echo confirmed dextrocardia with
no structural cardiac abnormality.
Ultrasound abdomen showed normal
* Department of Pediatrics.JSS Medical College Hospital, JSS University, Mysore.
15
Vol. 25, No. 2 Apr. - June 2011
and are most important features of the
syndrome1,2,3. Different etiologic factors of
Poland syndrome are taken into account:
genetic, vascular compromise during early
stages of embryogenesis, but also teratogenic
effects of environmental xenobiotics.
features of dextrocardia when associated
with Poland syndrome (neither associated
with situs inversus nor complex intracardiac
anomalies) support this hypothesis.
References
More than 20 patients with
dextrocardia and left-sided Poland
syndrome have been previously described.
The association between these 2 rare
anomalies suggests a causal relationship,
but the etiopathogenetic mechanism has not
been clarified yet4.
Dextrocardia was reported in 5.6% of
a series of 144 patients with Poland
syndrome, and in 9.6% of those, the defect
was left-sided2,5,7.
In
patients
with
isolated
dextrocardia, the incidence of congenital
heart disease has been estimated at 98%. In
dextrocardia with situs inversus this rate is
only 5% 6 . Congenital cardiovascular
anomalies have not been reported in Poland
syndrome with dextrocardia.
Dextrocardia in Poland syndrome is
associated with rib defects in all of cases,
whereas rib defects are reported in only
about 15% of patients with right-sided
Poland syndrome7.
Our case also supports the view that
the combination of Poland sequence and
dextrocardia is not coincidental and
dextrocardia may be part of the Poland
syndrome, especially left-sided. Probably,
mechanical factors during embryonic life
could explain the strong association between
left-sided
Poland
syndrome
and
dextrocardia. Accordingly, partial agenesis
of 2 or more ribs is needed to displace the
heart toward the right side. The peculiar
1.
Kevin P, David CS Jr. Disorders of
sternum and the thoracic wall. In :
Sabiston DC, Spencer FC (Eds.). Surgery
of the Chest, 6th ed. Philadelphia: WB
Saunders, 1995; 507-511.
2.
Fokin AA, Robicsek F. Polands
syndrome revisited. Ann Thorac Surg
2002; 74: 2218- 2225.
3.
Van Heest Ann E. Common orthopedic
problems II, Congenital disorders of
the hand
and upper extremity.
Pediatr Clin North Am 1996; 43: 11131133.
4.
Michele Torre, Anwar Baban, Anna
Buluggiu, Sara Costanzo, et al. The
Journal of Thoracic and Cardiovascular
Surgery - 12 November 2009 (10.1016/
j.jtcvs.2009.08.024).
5.
Bavinck JNB, Weaver DD. Subclavian
artery supply disruption sequence:
hypothesis of a vascular etiology for
Poland, Klippel- Feil, and Mobius
anomalies. Am J Med Genet. 1986;
23:903-18.
6.
Chen JTT. The chest roentgenogram and
cardiac fluoroscopy. In: Alexander
RW, Schlant RC, Fuster V, editors:
Hursts the heart. Italian International
Edition. New York: McGraw-Hill; 1995.
p. 387-414.
7. Fraser FC, Teebi A, Walsh S, Pinsky L.
Poland sequence with dextrocardia:
which comes first? Am J Med Genet.
1997; 73: 194-6.
16
16
Vol. 25, No. 2 Apr. - June 2011
A RARE BLISTERING DISEASE IN A NEWBORN
* James Daniel S, K Shreedhara Avabratha, Elizabeth Varkey Cherian, B Sanjeev Rai,
Ramesh Bhat
Abstract
that are characterized by blister formation
in response to little or no apparent trauma.
Hence the alternate term is mechanobullous
disease. There are three major types,
epidermolysis
simplex,
junctional
epidermolysis bullosa and dystrophic
epidermolysis bullosa which differs in
clinical and histologic features, inheritance
patterns and severity and prognosis1 . It
usually presents either at birth or during
the neonatal period. The incidence and
prevalence of epidermolysis bullosa are
estimated to be 19.60 per million live births
and 8.22 per million population, respectively2.
We report a newborn with multiple blisters
A term baby presented with multiple
bullae and erosions on lower limbs, back
and scalp. Minimal trauma resulted in
fresh lesions. There were a few oral and
perioral lesions. Skin biopsy from the lesion
confirmed the diagnosis of junctional
epidermolysis bullosa. Epidermolysis bullosa
is a rare congenital mechanobullous disease.
Key words: Epidermolysis bullosa,
blister, newborn
INTRODUCTION
Epidermolysis bullosa (EB) is a group
of congenital, hereditary blistering disorder
Fig A. Showing blistering
in perioral regions
Fig B. Showing
blistering and
erosion on
extremities
Fig C:Light microscopy(10X) of
biopsy specimen showing
subepidermal blistering
*Department of Pediatrics and # Department of Dermatology, Father Muller Medical College,
Mangalore, Karnataka, India
17
Vol. 25, No. 2 Apr. - June 2011
type of EB. The junctional EB is more
severe and is characterized by enamel
hypoplasia with moderate to severe
intraoral blistering and skin lesions where
as the dystrophic EB is the most severe
form of disease characterized by milia,
atrophy and nail dystrophy3.
and erosions whose skin biopsy confirmed
the diagnosis junctional EB.
CASE
A term female baby born to gravida 3
mother, with a good apgar score was
referred on day1 with history of blistering
and erosion of skin since birth. There was
consanguinity( 2 o relation) between the
parents, however there was no family
history of similar complaints. The birth
weight of the baby was 2200 grams. On
examination baby had erosion on the lower
limbs and bullae over the back and scalp
(Fig A). Minimal trauma resulted in fresh
lesions. There were few oral and perioral
lesions (Fig B). Systemic examination was
normal. A diagnosis of epidermolysis
bullosa was considered, with congenital
syphilis as a differential diagnosis. Mother
was tested negative for VDRL. Skin biopsy
confirmed the diagnosis of junctional
epidermolysis bullosa (Fig C). The baby was
treated with antibiotics local and
systemic, and paraffin guaze dressing.
Inspite of the treatment the baby succumb to
illness.
Junctional epidermolysis bullosa(JEB)
is the rare form of epidermolysis bullosa
and has an incidence of 2.04 per million
live births and 0.44 per million population,
respectively 2 which is characterized by
presence of enamel hypoplasia, manifested
as localized or more extensive thimble-like
pitting of some or all of the tooth surfaces.
It is therefore an extremely useful clinical
finding, although it cannot be used as a
diagnostic tool until after the primary teeth
have erupted3. There are two major JEB
subtypes JEB- Herlitz and JEB Non Herlitz.
The more severe one, JEB-Herlitz (JEBH), presents at birth and involves all skin
surfaces which is inherited as autosomal
recessive inheritance and is life threatening.
An affected usually presents with blisters
at birth or during early neonatal period with
blisters particularly in perioral area, scalp,
legs, diaper area and thorax with relative
sparing of feets and legs. Mucous membrane
involvement may be severe and presents as
ulcerations in respiratory, gastrointestinal
and genitourinary system.
DISCUSSION
Epidermolysis bullosa(EB) is a rare
group of inherited disorders that manifests
as blistering or erosion of the skin and in
some cases, the epithelial lining of other
organs, in response to little or no apparent
trauma. The following major types of
epidermolysis bullosa have been identified
Epidermolytic - Epidermolysis bullosa
simplex (EBS), Lucidolytic - Junctional
epidermolysis bullosa (JEB), Dermolytic Dystrophic epidermolysis bullosa (DEB)3.
An essentially pathognomonic finding
is exuberant granulation tissue which
usually arises within the first several
months to one to two years of life3. This
may involve not only the skin but also the
upper airway. Moderate to severe intraoral
blistering is invariably present, with some
eventual narrowing of the opening of the
mouth (microstomia) and reduced
extension of the tongue (ankyloglossia).
Epidermolysis bullosa simplex is the
most common type characterized by blisters
in the palms and soles, while milia scarring
and nail dystrophy is uncommon in this
18
Vol. 25, No. 2 Apr. - June 2011
Most patients die within first three of
year as large moist erosive plaques may
provide a portal of entry for bacteria
causing septicemia which is the most
frequent cause of death1.
calories, supplementation of iron and
prompt treatment of infections with
appropriate antibiotics. Transfusion of
packed cells may be required in patient not
responding to iron and erythropoietin.
Tissue engineered skin grafts may be
beneficiale.
The second type is a less severe form,
JEB-non Herlitz which is a heterogenous
group which presents as severe blistering
in neonatal period which is difficult to
differentiate
from Herlitz
type as
conditions associated with it is seen
although in milder form. Generalized
atrophic benign epidermolysis bullosa and
JEB associated with pyloric stenosis are
variants of non-Herlitz JEB.
In summary any baby presenting with
bullous skin lesions, EB should be
considered and every effort should be
made to confirm the diagnosis.
REFERENCES
In all types of JEB, light microscopy
shows subepidermal blister and electron
microscopy shows cleavage plane in the
lamina lucida. Differentiation of the two
types of epidermolysis bullosa is also
dependent on electron microscopy findings
and antigenic staining 4 ,5 . In our case,
lesions presented since birth and light
microscopy was suggestive of JEB, this fits
into JEB-H.
Differentiating EB from non-EB, or
one form of EB from another, can be very
difficult, especially in the neonatal period.
The following condition can be considered
in the differential diagnosis of EB: bullous
congenital ichthyosiform erythroderma;
staphylococcal scalded skin syndrome;
bullous impetigo; incontinentia pigmenti;
neonatal herpes simplex; autoimmune
bullous disease pemphigus or herpes
gestationis; aplasia cutis; focal dermal
hypoplasia;
congenital syphilis and
Gunthers disease2.
The treatment of JEB is mainly
supportive with diet which gives adequate
19
1.
Morelli JG. Vesicobullous disorders. In
Nelson Text book of Pediatrics.
Kleigman RM,
Jenson HB, Behrman
RE and Stanton BF ed. Philadelphia,
Pennsylvania, Saunders 2007; 26852693.
2.
Fine JD and Burge SM. Genetic
Blistering Diseases. In Rooks Text book
of Dermatology. Burns T, Breathnach S,
Cox N and Griffiths C ed. Singapore,
Wiley Blacwel 2010; 39.1-39.32.
3.
Fine JD. Epidermolysis Bullosa. In
Dermatology. Bolagnia JL, Jorizzo JL
and Rapini RP ed. Spain, Elsevier
2008; 457-466.
4.
Fine JD. Inherited epidermolysis
bullosa. Orphanet Journal of Rare
Diseases 2010, 5:12.
5.
Fine JD, Eady RAJ, Bauer JA, et al. The
classification
of
inherited
epidermolysis bullosa (EB): report of
the Third International Consensus
Meeting
on
Diagnosis
and
Classification of EB. J Am Acad
Dermatol 2008, 58:931-950.
Vol. 25, No. 2 Apr. - June 2011
STEVENS-JOHNSON SYNDROMEA CASE REPORT
*DR.K JAGADISH KUMAR, DR.H.C.KRISHNA KUMAR, DR.PAWAN KUMAR,
DR.V.G.MANJUNATH, DR.S.MAMATHA
ABSTRACT
and includes close monitoring of fluid and
electrolyte status, nutritional support,
meticulous wound care, and control of pain
and infection. We report 11 year old boy
with SJS caused by amoxicillin treated with
betamethasone who recovered completely
without any sequele.
Stevens-Johnson syndrome (SJS) and
toxic epidermal necrolysis (TEN) are
potentially fatal disorders, characterized by
high fever, wide-spread blistering exanthema
of macules, accompanied by mucosal and
oral involvement. The major causative drugs
were antibiotics, anticonvulsants, and
NSAIDs. The use of corticosteroids is based
on the idea that corticosteroids can
effectively suppress an excessive immune
response. We report 11 year old boy with
SJS caused by amoxicillin treated with
betamethasone, who recovered completely
without any sequele.
CASE REPORT
A 11 year old boy presented with
fever since 5 days and skin lesions since 2
days. After 3 days of onset of fever he
developed red rashes over the trunk,which
gradually progressed to involve the whole
body over next three days.Later the rashes
became dark with blister formation .He
stopped taking orally also and mother
noticed red lips with oral ulcers.There was
no history of cough, difficuty in breathing
and pruritis.His urine out put was normal
and there was no history of dark coloured
urine and stools.He was treated with
amoxicillin and paracetamol for 2 days
before the onset of rashes.
KEY WORDS: amoxicillin, SJS, betamethasone
INTRODUCTION
Stevens-Johnson syndrome is an
immune-complexmediated hypersensitivity
disorder that may be caused by many drugs,
viral infections, and malignancies. Most
patients are in the second to fourth decade
of life; however, cases have been reported in
children as young as 3 months (1). SJS and
TEN are severe cutaneous reactions that
carry significant morbidity and mortality
risks for children who are affected (2). They
represent severity varients of the same
process with respect to mechanisms,
clinically, etiologically and histopathologically.
The incidence is 1 to 6 cases per million
person per years(3).Even though the exact
pathophysiology is unclear,drugs are the
important etiological factor. Supportive
therapy is the standard of care for SJS/TEN
On examination he was febrile, PR of
106/minute, BP of 90/60 mm of Hg,
Respiratory rate of 24/min oxygen
saturation was 98% in room air.Skin
examination revealed generalised red
maculopapular lesions all over the body
more on the face with few crusted lesions
exposing the red raw surface.There were
vesicles surrounded by erythematous
base.Nikolskys sign was absent.Oral cavity
appeared red,crusted with erosions over lips
,buccal mucosa,and genitalia.Detailed
*Dept OF PEDIATRICS, JSS MEDICAL COLLEGE,JSS UNIVERSITY, MYSORE, KARNATAKA, INDIA.
20
Vol. 25, No. 2 Apr. - June 2011
ophthalmic examination revealed photophobia,
congested with white discharge bilaterally.
Other
systemic
examination
was
unremarkable. Investigations revealed Hb
13gm/dl,TC 5,800cells/cu mm ,Differential
count of 80% Neutrophils,20% lymphocytes,
platelet count2.36 lakhs/cumm, normal
normocytic peripheral blood picture,CRP
positive,widal and peripheral smear for
malarial parasite were negative.Blood urea
22mg/dL,creatinine 0.6mg/dL,Blood sugar
136 mg/dL, ,Sodium 128mmol/l, potassium
4.2 m mol/L,chloride 100 mmol/l,chest Xray normal, blood culture was sterile. In
view of exposure to amoxicillin with typical
clinical features ,a diagnosis of SJS/TEN
was made .Boy was started with i.v
fluids,inj ranitidine, oral vitamin A 2 lakhs
per day and i.v.cefotaxim.Saline compresses
for the skin lesions,ofloxacin eye
drops,saline cleansing of oral mucosa with
application of glycerin with local
anaesthetic gel was given .I.V.betamethasone
4 mg once a day started with monitoring of
the vitals.He became afebrile by 4 days and
he started taking orally by 3 days and
became ambulent on the fifth day.Skin and
mucosal lesions started fading by 3 days.He
was completely off i.v fluids by fifth day.
Betamethasone was given for 7 days. By
10 th day his skin and oral lesions healed
completely and discharged.
DISCUSSION
SJS and TEN are acute life threatening
mucocutaneous reactions characterised by
extensive necrosis and detachment of
epidermis.They start as erythematous
macules,evolve progressively to confluent
flaccid blisters with epithelial detachment.
They represent severity varients of the same
process with respect to mechanisms,
clinically, etiologically and histopathologically.
Pathologically, cell death results causing
separation of the epidermis from the dermis.
They differ only in the percentage of body
surface involvemet.The incidence is 1 to 6
cases per million people per years (3).Even
though the exact pathophysiology is unclear,
drugs are the important etiological factor.
Drugs particularly sulfonamides, NSAIDS,
anticonvulsants, antibiotics are the common
offenders (4).After the drug exposure SJS
clinically appears within 8 weeks (4 to 30
days).Fever, rhinitis may precede the
mucocutaneous lesions by 1 to 3
days.Burning eyes, pain on swallowing
progressively develops.The initial skin
lesions are dusky erythematous macules
which
progressively
coalese
on
erythamatous base.The lesions evolve to
flaccid blisters and break easily. The typical
lesion has the appearance of a target. At
pressure points the necrotic epidermis gets
detachment exposing the red dermis.
Nikolskys sign will be positive. Usually
epithelial detachment occurs for 5-7 days
followed by re-epithelialisation.In our case
also; skin lesions were classical and
recovered by 7 days. If less than 10 % of
body surface area is involved it is SJS; more
than 30 % it is TEN; 10-30 % SJS /TEN(4).
21
Vol. 25, No. 2 Apr. - June 2011
In 90 % of the cases mucous membrane
involement occurs and atleast two or more
mucosal surfaces will be involved (3).It
begins as erythema followed by erosions of
buccal, ocular and genital mucosa. In SJS
pain from mucosal ulceration is severe and
skin tenderness is absent in contrast to toxic
epidermoal necrolysis (4). Individual lesions
typically should heal within 1-2 weeks,
unless secondary infection occurs. Most
patients recover without sequelae like our
case.85 % of cases will have conjunctival
lesions, manifested by hyperemia, chemosis,
photophobia, and lacrimation. Ocular
involvement can cause corneal scarring and
visual loss (1,3).Pulmonary involvement can
occur in 25 % of cases characterised by
bronchial hypersecretion and dyspnoea.
Some have advocated corticosteroids,
cyclophosphamide,
plasmapheresis,
hemodialysis, and immunoglobulin.
The use of steroids is still
controversial (5,7,8, 9). The exact mode of
action of steroids in SJS/TEN is not known
(9). However, the prevailing consensus seems
to be that systemic glucocorticoids are
justified in the early and evolving disease
preferably within the first 72 hours of onset
to prevent widespread involvement or
during reappearance of erythema and/or
necrosis on newly regenerated skin. (6,9). In
a report of 52 cases of SJS and 65 cases
(2000-2006) of TEN from Japan, the authors
have used methyl prednisolone pulse (1251000 mg/day) for 3 days. They have
concluded that the mortality rates for
patients with SJS and TEN were 1.9% and
6.2% respectively which has decreased from
21.6% (58/269) during previous 17 years
(1981-1997) in which period steroids were
rarely used (5).Similar observations were
made by others also(9,10). Tripathi et al in
their report of 67 cases with SJS, 66 cases
recovered with steroid therapy (10). Steroid
pulse therapy at disease onset is of great
therapeutic importance in preventing ocular
complications also(11).Given the importance
of immune mechanisms in inflammatory
drug reactions, IVIG has emerged as a
potential immunomodulatory therapy for
SJS/TEN(2).IVIG seems to be a useful and
safe therapy for children with SJS/TEN. IVIG
doses of 0.5 to 1.0 g/kg administered over 3
days are most effective (2).
Raised blood urea is marker of
severity
(3).Anemia,
leucocytosis,
neutropenia, increased liver enzymes, raised
blood glucose can occur.The commonest
complication is sepsis due to epithelial
loss.Multiorgan failure, lung, ophthalmic
complications can also occur. The mortality
rate for TEN is 30 % and 5-12.5 % for SJS (1,
3,4). The single most important role for the
pediatrician is to detect Stevens-Johnson
syndrome/toxic epidermal necrolysis (SJS/
TEN) early and initiate the appropriate
emergency and inpatient management.
Treatment is primarily supportive and
symptomatic.Prompt withdrawal of the
offending drug and supportive care is very
important. Fluid and electrolyte balance is
the first priority, along with nutrition
support. Denuded skin lesions can be
cleaned with saline compresses.A daily
examination for infection is a must both
clinically and investigation wise. Eyes
shoud be taken care by ophthalmologist
with vitamin A, antibiotics and lubricants.
To conclude, SJS and TEN are
variations of the same disease expressed
with different severity .They generally begin
with a prodrome of high fever, sore throat,
and malaise, followed by the rapid onset of
cutaneous blistering, mucosal and eye
22
Vol. 25, No. 2 Apr. - June 2011
involvement. .SJS and TEN are rare but
6) Suresh Kumar.P.N, Biju Thomas,
serious disorders with significant morbidity
Kishore Kumar, and Shibu Kumar
and mortality in children.Steroids seems to
.StevensJohnson syndrometoxic
be a useful therapy for SJS.
epidermal
REFERENCES
overlap associated with carbamazepine
(SJSTEN)
use Indian J Psychiatry. 2005; 47: 121
1) Steven J Parrillo, Catherine V
123.
Parrillo.Stevens-Johnson Syndrome.
eMedicine.Updated:
necrolysis
7) Ginsburg
May 25, 2010
CM.Stevens-Johnson
syndrome in children. Pediatr Infect
2) Denise W. M, Peter J, Moise L. L. Use
Dis. 1982; 1:155-8.
of Intravenous Immunoglobulin in
Children with Stevens - Johnson
8) Cheriyan, Sarah, Patterson, Roy;
syndrome and Toxic Epidermal
Greenberger, Paul A.; Grammer, Leslie
Necrolysis: Seven Cases and Review of
C.; Latall, John. The Outcome of
the Literature. Pediatrics 2003;
Stevens - Johnson syndrome Treated
112:1430-1436.
with Corticosteroids.Allergy and
Asthma Proceedings.1995; 16:151-155.
3) Valeyrie-Allanore L, Jaean-cLaude r,
9) Sharma VK, Sethuraman G, Minz A.
Epidermal Necrolysis.In: Wolff K,
Stevens Johnson syndrome, toxic
Goldsmith L A,,Katz S I ,Gilchrest B A
,Paller A S ,Leffell D J .editors.
epidermal necrolysis and SJS-TEN
Fitzpatricks Dermatology in General
overlap: A retrospective study of
Medicine., 7th Edition, vol-1, New-
causative drugs and clinical outcome.
york:
Indian J Dermatol Venereol Leprol
Mc
Graw
Hill
Medical;
2008; 74:238-40
2008.p.349-354
G.Moreli.Vesicobullous
10) Tripathi A, Ditto AM, Grammer LC,
disorders. In: Kliegman R M, Jenson H
Greenberger PA, McGrath KG, Zeiss
B, Behrman R E,Stanton B F.editors.
CR, et al. Corticosteroid therapy in an
Nelson Text Book of Pediatrics. 18th
additional 13 cases of Stevens-Johnson
Edition.vol-2, Philadelphia: W B
syndrome: A total series of 67 cases.
Saunders Company; 2008.p.2685-2688
Allergy Asthma Proc 2000; 21:101-5
4) Joseph
5) Yamane Y, Aihara M, Ikezawa Z.
11) Yamane Y, Aihara M, Ikezawa Z.
Analysis of Stevens-Johnson syndrome
Analysis of Stevens-Johnson syndrome
and toxic epidermal necrolysis in
and toxic epidermal necrolysis in
Japan from 2000 to 2006. Allergol Int
Japan from 2000 to 2006. Allergol Int
2007; 56:419-25.
2007; 56:419-25.
23
Vol. 25, No. 2 Apr. - June 2011
CASE REPORT - BIOTINIDASE DEFICIENCY IN INFANCY
*Dr.Rajashekar Murthy G.V , Dr Sanjay K.S. , Dr.Bharath Kumar Reddy K.R.
Abstract:
rash around neck and back. Alopecia and
seborrheic dermatitis present since birth.
Systemic examination revealed an increased
tone with exaggerated reflexes. Laboratory
investigations revealed normal hemogram,
liver functions, and serum ammonia and
serum electrolytes. Blood gas analysis
showed persistent severe metabolic acidosis,
refractory to therapy. CSF was normal
Biotinidase deficiency is described in
patients with neurological, dermatological,
immunological and ophthalmological
abnormalities, especially in profound
deficiency (<10%). We report a baby who
presented with refractory seizures and skin
rashes, with abnormal tone. He had a high
C5OH levels on TMS, suggestive of
holocarboxylase deficiency. Specific enzyme
assay showed deficient biotinidase activity
of 0.1 nmol/min/mL. On treatment the
baby showed response with absence of
seizures and disappearance of skin rash.
After admission, baby was treated in
intensive care for seizures which were
difficult to control. In view of poor
therapeutic response and suspicious MRI
reports, he was investigated further for a
metabolic disorder. Plasma and urine amino
acidogram was normal. Tandem mass
spectrometry revealed increased C5OH
levels, suggestive of holocarboxylase
deficiency. Specific enzyme assay showed
deficient biotinidase activity of 0.1 nmol/
min/mL (normal >5nmol/min/mL).
Introduction
Biotinidase is a mammalian cell
enzyme that occurs at high levels in the
liver, serum, and kidney. Multiple
carboxylase deficiency responsive to biotin
administration was first described in 1971.
Wolf and colleagues further characterized
the infantile form of multiple carboxylase
deficiency as biotinidase deficiency in the
1980s i.It can be profound (<10% enzyme
level) or partial (10-30% enzyme level). ii
Clinical manifestations include neurological,
dermatological, immunological,
Picture 1 shows the face and scalp
to have an erythemaout rash along with
alopecia and seborrheic dermatitis.
and ophthalmological abnormalities.
We report a case of profound biotinidase
deficiency
Case Report
A 3-month old boy, born of non
consanguineous marriage, presented with
history of multiple seizures since 2 months
of age. MRI brain at that time revealed
ischemic changes in the white matter and
he was on treatment with phenobarbitone.
On admission, he was found to have
jitteriness. Skin showed an erythematous
He was started on oral biotin (10mg/day) along
with Carnitine (100mg/kg).The child improved
dramatically within few days with
normalization of sensorium and blood gas
reports, control of seizures, and disappearance
of skin lesions. He was discharged on biotin
* Indira Gandhi Institute of Child Health, Bangalore
24
Vol. 25, No. 2 Apr. - June 2011
typical sleep morphology. Both these
findings were seen in our child. Diagnosis
can be confirmed by Tandem Mass
spectrometry and serum enzyme analysis.
supplements and presently doing well after 3
months.
Therapy for biotinidase deficiency is
oral biotin, typically administered at an
initial dose of 10 mg/d. Some patients
require higher dosages. If the enzymatic
defect is present but does not respond to
lower dosages, consider a high-dose therapy
(up to 40 mg/d). If children are left with
residual neurological disease, they may
require treatments for developmental delay,
spasticity, and bulbar dysfunction in
addition to biotin. With treatment, patients
have an excellent prognosis and potential for
a normal lifestylevii
1. Wolf B. Disorders of Biotin Metabolism.
In: Scriver CR, Beaudet AL, Sly WS,
Valle D (eds). The Metabolic and
Molecular Bases of Inherited Disease.
8th ed. New York: McGraw-Hill;
2001.p.3935-3962.
2. McVoy, Julie R. Secor; Levy, Harvey L.;
Lawler, Michael; Schmidt, Michael A.;
Ebers, Douglas D.; Hart, Suzanne; Pettit,
Denise Dove; Blitzer, Miriam G. et al.
(1990). Partial biotinidase deficiency:
Clinical and biochemical features. The
Journal of Pediatrics 116 (1): 7883.
3. Wolf B. Worldwide survey of neonatal
screening for biotinidase deficiency. J
Inherit Metab Dis 1991; 14: 923-927.
4. Ramdas Dahiphale, Shreepal Jain,
Mukesh Agrawal; Biotinidase deficiency;
Indian Pediatrics 2008; 45:777-779
5. Hymes J, Stanley CM. Wolf B. Mutations
in BTD causing biotinidase deficiency.
Hum Mutat 2001; 18: 375-381.
6. Lott IT, Lottenberg S, Nyhan WL,
Buchsbaum MJ. Cerebral metabolic
changes after treatment in biotinidase
deficiency. J Inherit Metab Dis 1993: 16:
399-400.
7. Weber P, Scholl S, Baumgartner ER.
Outcome in patients with profound
biotinidase deficiency: relevance of
newborn screening. Dev Med Child
Neurol 2004; 46: 481-484.
Discussion
The incidence of profound biotinidase
deficiency is estimated at 1 per 137,401
population. The combined incidence of
partial and profound deficiencies is 1 per
61,067
populations 1 However, only
occasional case reports are available in
Indian literature. 2 The gene that encodes
biotinidase is localized at 3p25. The most
common mutation, 98-104del7ins3 (which is
present in approximately one half of
symptomatic children), has been identified.
A second, less common mutation, Arg538 R
? C, has also been described.3
The appearance of symptoms seems
to be associated with metabolic stressors (eg,
illness, fever, fasting), and children may not
be symptomatic until such time. The most
common symptom of presentation is
seizures. Others include features of
developmental delay, ataxia, neuropathy,
auditory nerve dysfunction and spastic
paraparesis. Dermatological manifestations
are particularly striking when they develop;
these include alopecia and an eczematous,
scaly perioral/facial rash. Although they
may be severe, the rash and alopecia
typically respond rapidly to biotin
administration over days to months. Respiratory
problems in these children include
hyperventilation, laryngeal stridor and apnea.
Most cases with Biotinidase deficiency
exhibit metabolic ketolactic acidosis, organic
aciduria, and mild hyperammonemia.
Children with biotinidase deficiency may
demonstrate cerebral edema, low attenuation
of white matter signal, cerebral atrophy, and
compensatory ventricular enlargement.4 EEG
findings prior to treatment demonstrate poor
organization of background and absence of
25
Vol. 25, No. 2 Apr. - June 2011
CASE REPORT: SCHIZENCEPHALY TYPE I A CAUSE
FOR STROKE IN CHILDREN
*Dr Sanjay K.S, Dr Rajashekar Murthy G, Dr Bharath Kumar Reddy K.R
Abstract
space with lateral ventricle medially ³³³)
Infolding of grey matter along the cleft iv)
Multiple associated intracranial malformations
including polymicrigyria, absent septum
pellucidum, optic nerve hypoplasia.
Schizencephaly is a rare developmental
disorder
of
neuronal
migration,
characterized by early focal destruction of
the germinal matrix and surrounding brain
before the cerebral hemispheres are fully
formed at 1-5 months of gestation .The
lesion is most likely related to multiple
aetiologies including genetic, toxic,
metabolic, vascular or infectious agents. This
case is reported due to its rarity. The
prevalence of schizencephaly is very
uncommon internationally.
Case Report:
A 15 month old male child presented
to us with complaints of inability to move
the left upper and lower limbs, noticed by
the parents since 5 months of age. The
development of the child was mildly delayed
in all domains. No history of convulsions
was present. The child was delivered full
term normally at a hospital with no
intrapartum or postpartum complications.
Child was the second born of a non
consanguineous parentage. On physical
examination child had normal head
circumference with no dysmorphic features.
Anthropometric measurements of weight and
length were within normal limits Vision and
hearing were normal. Muscle tone showed
spasticity in the left lower and upper limbs
with exaggerated reflexes. Babinskis sign
was extensor on the left side. The child was
admitted for evaluation of the etiology of
stroke. Hematological and biochemical
parameters were within normal limits. CT
scan showed a Closes Lip Schizencephaly
on the right side with an absent septum
pellucidum.. MRI was suggested but the
patients were not willing for the same.
Counselling was given and physiotherapy
was advised.
Key Words: Schizencephaly, septum
pellucidum, septoptic dysplasia.
Introduction
Schizencephaly is an uncommon
disorder of neuronal migration characterized
by a cerebrospinal fluidfilled cleft, which is
lined by gray matter. The cleft extends
across the entire cerebral hemisphere, from
the ventricular surface (ependyma) to the
periphery (pial surface) of the brain1. This
disorder was originally described by
Wadsworth and Yakolev2. The clefts may be
unilateral or bilateral and may be closed
(fused lips), as in schizencephaly type I, or
separated (open lips), as in schizencephaly
type II. Schizencephaly can be distinguished
from porencephaly by the fact that in
schizencephaly the fluid-filled component, if
present, is entirely lined by heterotopic grey
matter while a porencephalic cyst is lined
mostly by white matter . The cardinal
neuropathological features are ³)Hemispheric
cleft ³³)communication of subarachnoid
*Indira Gandhi Institute of Child Health, Bangalore
26
Vol. 25, No. 2 Apr. - June 2011
Picture 1 shows a closed lip
schizencephaly resulting in left sided
hemiparesis
infections and respiratory problems. In closed
lip schizencephaly patients may not present
until later in infancy and they live upto
adulthood.
REFERENCES
1.
Spalice A, Parisi P, Nicita F, Pizzardi G,
Del Balzo F, Iannetti P. Neuronal migration
disorders: clinical, neuroradiologic and
genetics aspects. Acta Paediatr. Mar
2009;98(3):421-33
2.
Discussion
Denis D, Chateil JF, Brun M, Brissaud O,
Lacombe D, Fontan D, Flurin V, Pedespan
In schizencephaly, the neurons border
J. Schizencephaly : Clinical imaging
the edge of the cleft, implying a very early
features in 30 infantile cases. Brain Dev
disruption of the usual grey matter migration
2000 Dec ; 22(8)475-83
during embryogenesis. The cause of the
3.
disruption is not known, but likely the cause
Tietjen, I.; Bodell, A.; Apse, K.; Mendonza,
may be either genetic or a physical insult, such
A. M.; Chang, B. S.; Shaw, G. M.; Barkovich,
as infection, infarction, hemorrhage, toxin or
A. J.; Lammer, E. J.; Walsh, C. A. :
mutation. As genetic cause, it is found to have
Comprehensive EMX2 genotyping of a
a mutant gene,EMX2 . The symptoms of
large schizencephaly case series. Am. J.
schizencephaly are variable. In closed type
Med. Genet. 143A: 1313-1316, 2007
1
(Unilateral case)- Mild hemisparesis and
4.
seizure but normal development.In open type
Gasparetto EL, Warszawiak D, de
there is mild to moderate developmental delay
Carvalho Neto A, Benites Filho PR, Bruck
with hemiparesis. In bilateral clefts there is
I, Antoniuk S. Septo optic dysplasia plus
severe mental deficits, severe motor anomalies
a case report. Arq Neuropsiquitar 2003
including spastic quadreparesis2 MRI is the
Sep; 671-6
imaging modality of choice . Treatment
3
consists
of
treatment
of
5.
seizures,
Morphological features and associated
physiotherapy, and in cases that are
complicated
by
hydrocephalus,
Hayashi N, Tsutsumi Y, Barkovich AJ.
anomalies of schizencephaly in the
a
clinical population: detailed analysis of
ventriculoperitoneal shunt is needed. In open
MR images. Neuroradiology 2002 May ;
lip schizencephaly the patients die at early age.
44(5):418-27
Death is mainly due to failure to thrive, chronic
27
Vol. 25, No. 2 Apr. - June 2011
NEONATAL POLYCYTHEMIA A HOSPITAL BASED STUDY
* Dr.Narayanappa.D, Dr.N.Rashmi, Dr.Mohan B.K
Polycythemia is a silent clinical entity,
which if unrecognized can result in
significant morbidity. We present a
prospective study done on 1362 consecutive
inborn babies delivered in J.S.S Hospital,
Mysore during the period from 1st July 2004
to 30th June 2005. Babies were considered
polycythemic if the venous hematocrit was
65% or more. The incidence of polycythemia
was 2.28%. Majority of the polycythemic
babies had venous hematocrit between 65 to
66%. Most of the symptomatic and also
asymptomatic babies had borderline
polycythemia. Hence, the degree of
polycythemia did not have any relation
with the symptomatology.
is relatively simple but controversial. There
is no controversy with regard to treatment of
symptomatic newborn babies with
polycythemia. However, in a newborn with
asymptomatic polycythemia, the indication
of partial exchange transfusion is not as
universally accepted because of lack of
controlled
data.
Management
in
asymptomatic infants should be individualized.
Key words: Neonatal polycythemia,
Hematocrit, Symptomatology.
Methods
Clinical studies reveal some
measurable benefits following partial
exchange transfusion. Controversy exists
with respect to the long term benefits to
infants treated with partial exchange
transfusion(6).
All babies born at J.S.S Hospital,
Mysore from 1st July 2004 to 30th June 2005
were included in the study , irrespective of
the gestational age and birth weight.
Introduction
Polycythemia
and
secondary
hyperviscosity are common problems in the
newborn period with reported incidence
ranging from 1% - 5% in total newborn
population(1,2).
Criteria for exclusion:
-delayed cord clamping.
-holding the baby below the level of
mothers introitus.
The most widely accepted definition
is venous hematocrit 65% or greater(1,2,3).
Small for gestation age babies(3) and infant
of diabetic mother(4) are known to have an
increased incidence of polycythemia and
hyperviscosity.
-cord milking/stripping.
In all the cases, the umbilical cord
was clamped within 30 seconds after birth
of the baby and the babies were held at the
level of the mothers introitus. Birth weight
was recorded to nearest 10 grams.
Gestational age was determined from
mothers menstrual history and confirmed
by modified Ballards scoring. Intrauterine
growth retardation and macrosomia were
defined by birth weight according to
gestational age, less than 10th percentile and
more than 90th percentile, respectively.
In India, low birth weight babies
represent 30% of all live births each year.
More than half of these babies are born at
term(5). It is thus obvious that polycythemia
could be a real problem existing in our
country and babies need to be actively
screened for this condition.
Treatment of infants with polycythemia
*Department of Pediatrics, J.S.S Medical College & Hospital, JSS University, Mysore, Karnataka, India
28
Vol. 25, No. 2 Apr. - June 2011
Capillary hematocrit was determined
on blood samples obtained by pricking a
neonates prewarmed heel (with medipoint
blood lancet) at 2- 4 hours of postnatal age.
Consent was obtained from the parent
present at the time of the procedure. All
capillary hematocrit were determined in
duplicate in 17 mm long and 1 mm wide
(internal diameter) capillary tubes spun at
10,000 RPM for 5 minutes, in a
microhematocrit centrifuge (REMI RM12C )
and the hematocrit read using a reading
device (REMI reading device) .
-
Hb (gm/dl), platelet count (per/mm3),
-
Blood glucose(mg/dl), serum calcium(mg/
dl), serum total bilirubin(mg/dl).
Steps of reading the haematocrit
using the reading device:
The laboratory abnormalities were defined
as follows-
Step 1- position the capillary tube in
the slot so that the baseline of the reader
intersects base of the red cell column.
Step 2- move the tube holder so that
the top line intersects top of the plasma.
•
Thrombocytopenia defined as platelet
count 1,00,000/mm3.
•
Hypoglycemia has been defined as
blood glucose less than 40 mg/dl
irrespective of birth weight and
gestational age.
•
Hypocalcemia has been defined as
serum total calcium less than 7.0 mg/
dl.
•
Hyperbilirubinemia has been defined as
serum bilirubin level of more than
12mg/dl.
In symptomatic babies, septicemia
was excluded by negative sepsis screen
(total leucocyte count, ESR, CRP) and blood
culture. Lumbar puncture was done in case
of convulsion to rule out meningitis and
cranial ultrasound was done to rule out any
structural anomalies of the brain.
Step 3- adjust the knob so that the
middle line intersects top of the red cell
column.
Step 4- read hematocrit (as percent)
on the scale.
Partial exchange transfusion was
performed for the following babies
If the capillary hematocrit was 70%
or greater, a peripheral venous hematocrit
was determined immediately. The infants
were considered to be polycythemic if the
venous hematocrit was 65% or greater. A
repeat hematocrit was performed at 12 hours
(or at any age if symptoms appeared) if the
initial hematocrit was high.
-
Those babies with venous hematocrit
≥65% with symptoms.
-
Those babies with venous hematocrit
>70% without symptoms.
Asymptomatic babies with a venous
hematocrit of 65 to 70 % were only
observed.
All neonates were examined by the
same investigator and the polycythemic
babies were categorized as symptomatic and
asymptomatic. Particular attention was given
to the presence of signs and symptoms
attributable to polycythemia. Lethargy, poor
feeding, plethora, cyanosis, convulsions,
icterus, tachypnea, etc., were looked for.
The volume for partial exchange
transfusion was calculated using the
formula- (observed hematocrit- desired
hematocrit)×weight (kg)×blood volume (ml/
kg) observed hematocrit
Desired hematocrit was taken as 55%,
Blood volume taken as 80ml/kg.
The following investigations were
sent for all polycythemic babies:
29
Vol. 25, No. 2 Apr. - June 2011
Partial exchange transfusion was
done through two peripheral veins. Blood
was allowed to drip out freely through a
vein using 21-22 gauge disposable needle/
cannula while simultaneous infusion of
fluid (normal saline) was carried out
through another peripheral vein. Babies
were monitored throughout the procedure.
Results
Total of 1362 babies born
consecutively at J.S.S Hospital, Mysore from
1st July 2004 to 30th June 2005 were studied.
The overall incidence was 2.28%.
Among the polycythemic babies, 15 were
males and 16 were females. There was no
significant difference in gender (P>.05)
among polycythemic babies. 3 out of 16
twins in the study population had
polycythemia.
Immediate post exchange hematocrit
was done using venous blood. Babies were
followed up clinically and repeat hematocrit
done at 12 hrs of age.
Among mothers with abnormal
pregnancy, babies born to mothers with PIH
constituted the highest number (12 out of 31
cases). Incidence of polycythemia was
significantly high in babies born to mothers
with PIH, APH, GDM and multiple
pregnancy when compared with mothers
with no abnormality. (Table I).
Effectiveness of partial exchange
transfusion was assessed by its efficacy to
bring down the hematocrit to desired levels
and to maintain it at normocythemic levels
and also the improvement in the signs and
symptoms of polycythemia.
TABLES
Table I: Relationship between Maternal Medical and Obstetrical Status and
Neonatal Polycythemia.
No. of
Mother
s
% of
Total
No. of
Polycythe
mic
Babies
%
P
value*
1237
90.82%
12
0.97%
-
PIH
70
5.14%
12
17.14
%
.000
Multiple
Pregnancy
16
1.10%
3
18.75
%
.000
GDM
9
0.66 %
3
33.33
%
.000
APH
8
0.58 %
1
12.50
%
.000
Cardiac
Disease
8
0.58 %
-
-
NS
Renal
Disease
2
0.15%
-
-
NS
Others
12
0.88%
-
-
NS
Normal
30
Vol. 25, No. 2 Apr. - June 2011
Among the polycythemic babies
(n=31), term babies constituted 77.4% and
SGA babies constituted 54.8%. Preterm and
post term babies constituted 19.4% and 3.2
% respectively. AGA and LGA babies
constituted 41.9% and 6.25% respectively.
Majority of the polycythemic babies
had venous hematocrit between 65 to 66%.
In the asymptomatic group, 8 babies had
venous hematocrit of 65-66% and 3 babies
had 66-67%. In the symptomatic group, 17
babies had 65-66%, 1 baby had 66-67% and
2 babies had 67-68%. This shows that 85%
of the symptomatic babies had borderline
high levels of venous hematocrit. The venous
hematocrit levels did not correlate with the
clinical features. (Table IV).
Among the clinical features, lethargy
was the most common (61.3%), followed by
poor feeding (38.7%), plethora (38.7%),
cyanosis (22.6%). Convulsion was seen in
one case (Table 2). 11 out of 31
polycythemic babies were asymptomatic.
(Table II)
Table IV - Frequency distribution of
venous hematocrit among polycythemic
babies.
Table II: Clinical features in
Neonatal Polycythemia.
Clinical signs
and symptoms
Lethargy
Poor Feeding
Plethora
Cyanosis
Icterus
Tachypnea
Convulsion
Asymptomatic
Symptomatic
No. of
Polycythemic
Babies
(%)
19
12
12
7
6
2
1
61.3%
38.7%
38.7%
22.6%
19.35%
6.5%
3.2%
11
35.48%
20
64.52%
Table III: Laboratory Abnormalities
in Neonatal Polycythemia.
No. of
Cases
%
10
32.3%
Thrombocytopenia
7
22.6%
Hyperbilirubinemia
6
19.35%
Hypocalcemia
2
6.5%
Hypoglycemia
No. of
Polycyth
emic
Cases
No. of
Asymptomati
c babies
65-66
25
(80.6%)
8 (72.8%)
66-67
4 (12.9%)
3 (27.2%)
1 (5%)
67-68
2 (6.5%)
0
2 (10%)
Total
31
(100%)
11
No of
Symptom
atic
Babies
17 (85%)
20
This table shows that majority of both
symptomatic as well as asymptomatic
babies had borderline hematocrit of 65
66%. There was no significant difference
between symptomatic and asymptomatic
babies with respect to the hematocrit levels
(p = 0.4). Hence the degree of polycythaemia
could not be related to the symptomatology.
Hypoglycemia was seen in 10 cases
(32.3%), thrombocytopenia in 7 cases (22.6%),
hyperbilirubinemia in 6 cases (19.35%),
hypocalcemia in 2 cases (6.5%). (Table III).
Laboratory
Parameter
Venous
hemato
crit
(%)
In the present study, 20 babies
underwent partial exchange transfusion
with normal saline through two peripheral
veins. 11 asymptomatic babies partial
exchange were only observed.
Discussion
The present study showed an
incidence of neonatal polycythemia of
2.28%. The incidence in the present study
compares well with the 1.4 -5 % incidence
reported by other workers(7,10,11). Within
31
Vol. 25, No. 2 Apr. - June 2011
the polycythemic group, term babies and
SGA babies constituted the highest. This
was similar to studies conducted by
L.Krishnan(5), M.Singh(9), S.Singh(11). But
Wiswell(10) showed that majority of the
polycythemic babies in the growth status
group were AGA.
levels of venous hematocrit. Hence, the
venous hematocrit levels did not have any
relation with the clinical features.
Points to remember:
1) Polycythemia is a silent clinical entity
which if unrecognized can result in
significant morbidity and mortality.
2) Close monitoring is necessary as
clinical features in polycythemia may be
subtle and
babies may be
asymptomatic.
3) Lethargy was the most common
symptom and hypoglycaemia, the most
common laboratory finding.
4) The levels of venous hematocrit do not
have any relation with the symptomatology.
Among the maternal risk factors for
the development of neonatal polycythemia,
the present study showed that, PIH had
significantly (p=.000) high risk of
development of neonatal polycythemia. This
was similarly seen in studies conducted by
Virginia (20.7%) and L.Krishnan (27%) (5,8).
The study also showed that other maternal
risk factors like GDM, multiple pregnancy,
APH significantly increased the incidence of
neonatal polycythemia.
REFERENCES
The most common clinical features
seen in this study included lethargy (61.3%),
followed by poor feeding (38.7%), plethora
(38.7%), cyanosis (22.6%), icterus (19.35%).
Other studies showed similar result.
Other uncommon manifestations of
neonatal polycythemia, like necrotizing
entrocolitis, intracranial hemorrhage,
priapism were not encountered in the
present study, unlike in other studies(12,13).
1.
Wirth FH, Goldberg KE, Lubchenco LO.
Neonatal hyperviscosity: I Incidence.
Pediatrics 1979; 63:833-836.
2.
Stevens K, Wirth FH. Incidence of
Neonatal hyperviscosity at sea level. J
Pediatr 1980; 97: 118 119.
Humbert JR, Abelson WE, Battaglia FC.
Polycythemia in small for gestational
age infants. J Pediatr 1969; 75: 812.
Letsky EA. Polycythemia in the
newborn. In: Text Book of Neonatology,
2 nd Edn. Eds. Roberton NRC.
Edinburgh, Churchill Livingstone, 1992;
p 719 723.
Krishnan L, Rahim A. Neonatal
Polycythemia. Indian J Pediatr 1997;
64:541-6
Goldberg K, Wirth FH, Hathaway WE et
al. neonatal hyperviscosity: II. Effects of
partial plasma exchange transfusion.
Pediatrics 1982; 69: 419-425.
Ramamurthy RS, Brans TW. Neonatal
polycythemia: I. Criteria for diagnosis and
treatment. Pediatrics 1981; 68: 168 174.
Kurlat I, Sola. Neonatal polycythemia in
appropriately grown infants of
hypertensive mothers. Acta Paediatr
1992; 81(9):662-4
3.
4.
In the present study, 35.48 % of the
polycythemic babies were asymptomatic.
This was similar to the study conducted by
Wiswell(10).
Most common laboratory abnormality
seen in neonatal polycythemia in this study
was hypoglycemia (32.3%), followed by
thrombocytopenia (22.6%), hyperbilirubinemia
(19.35%) and hypocalcemia (6.5%). Other
studies also showed that hypoglycemia was
the most common laboratory abnormality
associated with polycythemia.
5.
6.
7.
Majority of the babies had venous
hematocrit in the range of 65-66% (25 out of
31). In the asymptomatic group, 8 babies
had hematocrit of 65-66% and 3 babies had
66-67%. In the symptomatic group, 17
babies had hematocrit of 6566%, i.e; 85% of
the symptomatic babies had borderline high
8.
32
9.
Vol. 25, No. 2 Apr. - June 2011
Singh M, Singhal PK, Paul VK et al.
Polycythemia in the newborn Do
asymptomatic babies need exchange
transfusion? Indian pediatr 1990; 27:
61-65.
11. Singh S, Narang A, Bakoo O N.
Polycythemia in Newborn. Indian
Pediatr 1990; 27: 349-353.
12. Hankanson DO, OH W. Necrotizing
enterocolitis and hyperviscosity in the
newborn infant. J Pediatr 1977; 90: 458461.
13. Black VD, Lubchenco LO. Neonatal
polycythemia and hyperviscosity. Pediatr
Clin North Am 1982; 29: 1137-1148.
10. Thomas E, Wiswell MC, Dern Cornish
MC. Neonatal polycythemia: Frequency
of clinical manifestations and other
associated findings. Pediatrics 1986; 78: 26-30.
33
Vol. 25, No. 2 Apr. - June 2011
CONGENITAL EMPHYSEMA: A CASE REPORT
*Roopa.Mangshetty. Sharangouda Patil. Shrikanth.S.W. Hosgouda Kiran.
Respiratory system examination revealed
tachypnoea, subcostal retractions, nasal
flaring, Spo2 = 85% with 5 liter of O2/ min,
decreased chest movements over the right
side of chest, bulging noticed over right
hemithorax, hyperresonent note over left side
of chest and decreased air entry over right
side of chest. Routine investigations, Chest x
ray and CT thorax was done
ABSTRACT:
This report describes congenital
emphysema of left lung in a 25 day old
neonate who presented with cough, fever
followed by breathlessness and bluish
discoloration of lips and limbs.
KEY WORDS:
Respiratory distress, Emphysema,
Atelectasis, adrenal cyst.
INTRODUCTION:
Pulmonary Emphysema is distension
of air spaces with irreversible disruption of
alveolar septa. It can generalized or
localized. Congenital Emphysema can result
in severe respiratory distress in early
infancy and can be caused by localized
obstruction. Familial occurrence has been
reported. Only in 50% of cases, a cause of
congenital emphysema can be identified.
INVESTIGATIONS:
CASE REPORT:
Hb- 17.9 gm/dl,TC- 13,100 cells/
mm3,DC= P- 42%, L- 57%, E-1%,ESR- 10
mm/ 1st hour
A 25 day old term neonate named
Saidu S/O Jaganath Karikal resident of
Afzalpur, Gulbarga was admitted in our
PICU on 26/01/11 with chief complaint of
Cough andFever- since 4 days,
Breathlessness since 2 days,Bluish
discoloration of lips and limbs 2 days
Cheat X ray
This child was born to a 2nd degree
consanguineous couple, and birth history
was uneventful. This is the 4th child of the
couple and other siblings are keeping in
good health. On examination, Pulse- 168/
min, BP- 60/40 mm of Hg , RR- 58 cycles/
min , Head circumference 34 cms Chest
circumference- 32 cms(Right 17 cm, Left- 15
cm) , Length- 54 cms, Weight- 2.75 kg.
C T Torax
*From Department of Pediatrics Mahadevappa Rampure Medical College Gulbarga-India
34
Vol. 25, No. 2 Apr. - June 2011
Patchy areas of atelectasis noted in
posterior basal segment of right lower lobe
with loss of lung volume on right side
Hyperinflated
left
lung
possibly
compensatory
emphysema,Shift
of
mediastinum and cardia to right, herniation
of left lung to right hemithorax, Wedge
shaped soft tissue attenuation in posterior
basal segment of right lower lobe of lung.
2)
Karnak I, Senocak ME, Ciftci AO, et al:
congenital
lobar
emphysema:
diagnostic
and
therapeutic
considerations. J pediatr journal 1999;
34: 1347-1351
3)
Chao MC, Karamzadeh AM, Ahuja G:
congenital lobar emphysema: an
otolaryngologic perspective. Int j
pediatr otorhinolaryngol 2005; 69: 549554
4)
Mei- Zahar M, Konen O, Manson D,
Langer JC: is congenital lobar
emphysema a surgical desease? J
Pediatr surg 2006; 41: 1058-1061
5)
Cumming JR, Macpherson RI, Chernick
V: unilateral hyperlucent lung
syndrome in children. J pediatr 1971:
78; 250-260.
Treatment:
Injection Ceftriazone, Injection
Amikacin, Ambrodyl drops, Normal saline
nebulisation
REFERENCE:
1)
Horak E, Bodner J, Gassener I et al:
congenital cystic lung disease:
diagnostic
and
therapeutic
considerations. Clin pediatr 2003; 42:
251-261
35
Vol. 25, No. 2 Apr. - June 2011
Nephrology Section
HYPOTHYROIDISM & NEPHROTIC SYNDROME
A CAUSE OR EFFECT ?
*Nithya T, B Sanjeev Rai, Habib Ullah Khan, Aby Dany Varghese
Abstract : A 3 year old girl with
clinical hypothyroidism with low T4 and
elevated
serum TSH
levels
had
associated nephrotic range of proteinuria
with elevated lipid profile. Treatment
with steroids and thyroxine replacement
showed improvement in clinical and
laboratory parameters.
past 4 months. Present investigations
revealed hypoalbuminemia (1.2 g/dl),
hypercholesterolemia
(487mg/dl),
hypertriglyceridemia (602mg/dl) and
proteinuria (urine protein creatine ratio6.13). Renal function tests were within
normal limits. Serum C3 level was
normal. Abdominal ultrasound revealed
mild ascites with normal kidneys.
Radiological evaluation showed normal
bone age. The blood levels of total T3 and
T4 were 0.92 (0.8-2.0) and 4.58 (5.1- 12.0)
respectively. TSH was mildly elevated6.13 ( 0.27-4.2). Antithyroid antibodies were
negative. Urinary T3 and T4 was detectable
(1.09 and 1.17 respectively).
Keywords : Nephrotic syndrome,
hypothyroidism, proteinuria
Introduction
Nephrotic syndrome in children
is not an uncommon entity. Although
functional hypothyroidism is known to
occur in nephrotic syndrome, clinical
hypothyroidism
is
an
unusual
association1.We report a case of nephrotic
syndrome with clinical hypothyroidism.
The child was started on oral
steroids (60mg/m 2/day) and thyroxine
(10mcg/kg/day). Proteinuria resolved
within a week of treatment and showed
clinical signs of improvement disappearance
of edema, better activity and apetite.
A 3 year old girl presented with
history of constipation, poor activity and
global developmental delay. She was a
term baby, appropriate for gestational age
, born of a non consanguineous marriage.
Physical examination findings included
coarse facies, periorbital puffiness, low set
ears, dry skin, umbilical hernia, mild
ascites and hypotonia. Developmental and
mental age was around 11/2 years .
Anthropometric measurements were
within normal limits. Developmental
delay was noticed at 8 months of age,
for which she was evaluated. Thyroid
function tests done then, were normal.
She had documented proteinuria for
Discussion
Nephrotic syndrome is characterized
by a marked increase in glomerular
permeability and presents with proteinuria,
hypoproteinemia, edema and hypercholesterolemia.2
* Department of Pediatrics, Father Muller Medical College,Mangalore
36
Vol. 25, No. 2 Apr. - June 2011
Proteinuria occurs due to changes in
capillary endothelial cells, the glomerular
basement membrane, or podocytes, which
normally filter serum protein selectively
by size and charge. This results in urinary
loss of macromolecular proteins, primarily
albumin but also opsonins, immunoglobulins,
erythropoietin, transferrin, hormone-binding
proteins ( including thyroid-binding
globulin and vitamin D-binding protein),
and antithrombin III.
and grwth hormoneIGF-1 system6.
Urinary loss of thyroglobulin, free T4
,T3 with consequent fall in T3, T4, TBG
levels and rise in TSH are documented in
children with
untreated
nephrotic
syndrome and are reversible with disease
remission
or
following
bilateral
nephrectomy and renal replacement
therapy .3,4 There is a positive correlation
between serum albumin and T4 levels ;
and degree of proteinuria and urinary loss
of T4. This is supported by normalization
of thyroid indices with onset of
remission of nephrotic syndrome .5
References
In summary, there is an existence
of hypothyroid state in some infants
with nephrotic syndrome. Also, increasing
thyroxine requirements in a case of
hypothyroidism should be evaluated for
proteinuria. Routine thyroid screening
and early replacement therapy if
required, may be recommended for all
children with nephrotic syndrome.
In our patient, hypothyroidism was
manifested with low T4 and elevated TSH
levels. Absence of thyroid antibodies and
goiter ruled out autoimmune etiology.
Normal thyroid function tests in the
first year of life and normal bone age
in Xray suggests that congenital
hypothyroidism is unlikely. Loss of
thyroid hormone in urine seems the
likely explanation for rising TSH levels
in this
child. Thyroid
hormone
replacement has resulted in clinical
improvement, which may be tapered
and stopped after attaining remission of
nephrotic syndrome5.
1.
Muranjan MN, Kher AS, Nadkarni UB,
Kamat JR. Congenital nephrotic
syndrome with clinical hypothyroidism.
Indian J Pediatr 1995;62:233-5.
2.
Trouillier S,Delevaux I, Rance N et al.
Increasing thyroxine requirements in
primary hypothyroidism: dont forget
the urinalysis! J Postgrad Med
2006;52:201-3.
3.
Carpi A, Romano F, Massitelli M,
Ciardella F . Low protein supplemented
diet corrects altered serum thyroid
hormone and TSH concentrations in
patients with chronic nephrotic
syndrome. Thyroidology 1990;2:89-92.
4.
Chadha V, Alon US. Bilateral
nephrectomy reverses hypothyroidism
in congenital nephrotic syndrome.
Pediatr Nephrol 1999;13:209-11.
5.
Fonseca V, Thomas M, Katrak A, Sweny
P, Moorhead JF. Can urinary thyroid
hormone loss cause hypothyroidism?
Lancet 1991;338:475-6.
Haffner D, Tonshoff B, Blum WF, Vickers M,
Siebler T, Cronin MJ, et al. Insulin-like
growth factors (IGFs) and IGF binding
proteins, serum acid-labile subunit and
growth hormone binding protein in
nephrotic children. Kidney Int 1997;52:80210.
Glomerular disease giving rise to
protein loss with associated endocrine
dysfunction is not confined to thyroid
and clinicians should be alert to
alterations in other hormone systemsnotably hypothalami-pituitary-adrenal axis
37
Vol. 25, No. 2 Apr. - June 2011
COMMON PITFALLS IN
PROBLEMS IN CHILDREN
DIAGNOSING
RENAL
*Dr Arpana Iyengar
and renal dysplasia. In these conditions
there is suboptimal growth inspite of normal
renal function. Growth retardation is a
hallmark of chronic renal failure, children
with an underlying tubular disorder being
the worst affected. Correcting metabolic
acidosis helps to optimize growth.
Diagnosing renal disorders in
children is challenging as manifestations of
renal disease are vague and subtle. In
addition, many of the signs and symptoms
of renal disease mimic or simulate other
systemic diseases. It is therefore crucial for
us pediatricians to have a high index of
suspicion and bear in mind the clinical
diversity of kidney disease.
Anemia: This could be the only clue
to a probable diagnosis of a renal disease.
Anemia is predominant in connective tissue
diseases, hemolytic uremic syndrome, acute
renal failure secondary to malaria and
intravascular hemolysis.Chronic anemia that
is refractory to iron therapy should be
considered as a clue to exclude chronic renal failure.
The two important categories of
kidney diseases that present with
contrasting clinical scenarios are glomerular
disease and tubular disease. A typical
glomerular disease (nephrotic syndrome,
glomerulonephritis, hemolytic uremic
syndrome) will present with any of the
following features of edema, oliguria and
proteinuria with or without hematuria and
hypertension. On the contrary, a tubular
disease (renal tubular acidosis, Barters
syndrome, and nephrogenic diabetes
insipidus) manifests as failure to thrive,
growth retardation, polyuria and polydipsia
with or without bony deformities. A
glomerular or a tubular disease could
present as acute renal failure/ acute kidney
injury or progress to chronic renal failure /
chronic kidney disease.
Bony deformities: Every bony
deformity in childhood is not rickets.
However, various forms of rickets in many
children get missed and they end up
receiving orthopedic treatment. It is therefore
absolutely necessary for us to screen for nonnutritional rickets in children with
significant bony abnormalities. Rickets is
always diagnosed based on biochemical
and radiological findings. Growth
retardation, polyuria and polydipsia
associated with rickets could indicate renal
tubular acidosis or Barters syndrome.
Rickets predominantly affecting the lower
limbs associated with teeth abnormalities
and short stature without polyuria or
polydipsia is characteristic of hypophosphatemic
rickets. Renal osteodystrophy presents as
bony deformities and is a hallmark of
chronic renal failure.
Hematuria, oliguria and edema are
obvious clinical markers of renal disease.
However there are several other markers that
need to be addressed which help us not
miss an underlying renal disease.
The RED FLAGS:
Growth: Failure to thrive, growth
retardation or short stature are predominant
manifestations of renal diseases like renal
tubular acidosis, Barters syndrome,
nephrogenic diabetes insipidus, vitamin D
dependent
and
resistant
rickets,
vesicoureteral reflux, polycystic renal disease
Hypertension: Childhood hypertension
can be asymptomatic. It is most often an
incidental finding picked up during routine
examination. This emphasizes the need for a
regular annual blood pressure recording in
all children above 3 years of age. Children
at risk for hypertension are growth restricted
*Associate Professor, Division of Pediatric Nephrology,Department of Pediatrics, St Johns Medical
College Hospital, Bangalore 560034
38
Vol. 25, No. 2 Apr. - June 2011
neonates, obese children, children with
recurrent urinary tract infections, on
medications like steroids, cyclosporine and
following
a
glomerular
disease.
Hypertensive crisis could mimic meningitis
or encephalitis with vomiting, headache,
altered sensorium and seizures. A finding of
asymmetry in the size of the kidneys will
give a clue to diagnosis of renal artery
stenosis. Reflux nephropathy with renal
scars could present with hypertension.
Hypertension is a manifestation of both
acute and chronic renal failure.
normal urine output in the presence of
moderate to severe dehydration should raise
the possibility of an underlying tubular
disorder. Polyuria is most often missed as a
significant cause for failure to thrive and
recurrent dehydration.
Urine:
Recurrent symptoms: Recurrence of
symptoms is the key to diagnosing many
renal disorders. Recurrent fever could be a
manifestation of urinary tract infection,
recurrent vomiting could due to metabolic
acidosis in renal tubular acidosis, recurrent
episode of dehydration indicates polyuric
tubular diseases, recurrent hematuria goes
against a post streptococcal glomerulonephritis
and recurrent edema is characteristic of
nephrotic syndrome.
Systemic manifestations: Prolonged
fever, joint pains, skin rashes associated
with hematuria, proteinuria or hypertension
usually indicates connective tissue disease
or Henoch Scholein purpura nephritis. Fever
without respiratory symptoms in infants
should prompt us to rule out urinary infection.
Analysis: In day to day practice,
transient urinary abnormalities accompany
systemic diseases. Febrile illness can present
with transient proteinuria and microscopic
hematuria. It is important to closely follow
up these findings even after the child
recovers from the acute illness. Persistent
proteinuria or microscopic hematuria for
more than 2-3months needs a detailed
evaluation inspite of the child being
asymptomatic to rule out Ig A nephropathy,
Alports disease and connective tissue
disease. Microscopic hematuria may be a
presentation of stone disease or
hypercalciuria. The presence of white blood
cells in urine could indicate urinary
infection or intake of nephrotoxic drugs like
NSAIDs causing interstitial nephritis.
Syndromic associations: Markers for a
kidney disease at birth would include
abnormal antenatal renal scans (oligohydramnios,
polyhydramnios, hydronephrosis, spinal
defects), a single umbilical artery, ear lobe
defects, spinal and genital deformities, a
palpable bladder or renal mass, hypoplastic
lungs and Potters facies
Positive family history: A positive
family history for renal disease could guide
us make a diagnosis in children with
vescicoureteral reflux, genetic forms of
nephrotic syndrome, tubular disorders and
Alports syndrome.
Therapeutic indicators: Drugs need
dose corrections in the presence of renal
failure and prolonged use of diuretics or
aminoglycosides need regular monitoring of
serum creatinine. Children with nephrotic
syndrome in shock should be treated with
albumin if they are unresponsive to fluid bolus.
To conclude detecting renal diseases
in children is a challenge which we can
overcome with a detailed history taking and
meticulous examination. It would be
essential to bear in mind the common
pitfalls in order to avoid missing a
diagnosis of renal disease.
Stream: Enquiring about the urinary
stream, the flow, interruption or intermittent
stream is important and could be the only
complaint in children with an underlying
posterior urethral valve or neurogenic
bladder. Every enuresis is not night time
bed wetting. Associated features of voiding
dysfunction need to be excluded in children
with bedwetting.
Output: Decreased urine output is
a straightforward symptom of renal disease.
However it may be a symptom even when
renal functions are normal like in children
with nephrotic syndrome and glomerulonephritis.
In situations of acute renal failure, one can
have decreased, increased or even normal
urine output. Therefore urine output is not
a reliable indicator of renal functions. A
39
Vol. 25, No. 2 Apr. - June 2011
EVALUATION OF A CHILD WITH POLYURIA
*Dr. Nagamani Agarwal
3. Failure of renal response to ADH
Nephrogenic diabetes insipidus(x linked
recessive)
Acquired unresponsiveness to ADH
Obstructive uropathy
Chronic pyelonephritis
Reflux nephropathy
Hypokalemia
Hypercalcemia/nephrocalcinosis
Sickle cell disease
Chronic renal failure due to interstitial
nephritis
Drug induced-ampotericin,lithium,
tetracycline
Polyuria is defined as urine output
more than 4ml/kg/hour. Polyuric child
voids large amount of urine during day and
night as well. Polyuria is usually associated
with polydipsia which refers to excessive
thirst and intake of large volumes of liquid
to quench the thirst.
Accurate measurement of 24 hours
intake of fluids and urine output should be
done to establish the diagnosis of polyuria.
It is important to distinguish polyuria from
frequency of micturition where small volume
of urine passed frequently though the 24
hours urine output is within normal limits .
Polyuria may result from excessive
fluid intake (psychogenic polydipsia ),
increased osmotic load(solute diuresis),
failure to produce ADH(central diabetes
insipidus)or unresponsiveness to the action
of ADH in kidney(nephrogenic diabetes
insipidus). The final osmolality of the urine
is solely dependent on water permeability of
collecting ducts which is controlled by ADH.
Causes of polyuria in children
1.Solute diuresis(increased osmotic load)
Diabetes mellitus(due to glycosuria)
Hypercalcemia(due to hypercalciuria)
Bartter syndrome(due to sodium chloride)
Renal tubular acidosis(due to sodium
bicarbonate)
2. Failure of ADH production(central
diabetes insipidus-hypothalamic /pituitary
disorders)
Pituitary tumour
Post hypophysectomy
Infections-meningitis, encephalitis, tuberculosis
Basal fracture
Vascular aneurysm or thrombosis
4. Psychogenic or Primary polydipsia
Children with polyuria due to
pathological conditions may present with
failure to thrive, polydipsia, nocturnal
enuresis,febrile episodes due to dehydration
and convulsion. Failure to thrive is because
the constant increased intake of fluids limits
their appetite. Repeated episodes of
dehydration may result in mental retardation.
A thorough history and physical
examination may provide clues to the cause
of polyuria. Frequency of voiding and drinking
particularly at night is useful information
to assess the severity of the probem.
Physical examination should include
assessment of growth,anemia, hypertension,
bony deformities, renal or bladder mass,
evidence of dehydration and ophthalmic
evaluation.
Investigations and practical approach
First step is to confirm the presence of
polyuria by quantifying the 24 hours urine
* Associate Professor of Pediatrics, JJMMC, Davangere
40
Vol. 25, No. 2 Apr. - June 2011
test is to induce mild dehydration and thus
challenge the kidneys to preserve water. If
child presents with hypernatremia, this test
is not necessary. The test carries the risk of
severe hypernatremic dehydration especially
in infants.
output. Decide whether polyuria is
associated with polydipsia and failure to
thrive Estimate blood sugar to exclude
diabetes mellitus and serum creatinine for
renal failure .Rule out hypokalemia and
hypercalcemia .Arterial blood gas analysis
is essential when renal tubular acidosis or
Bartters syndrome are suspected .Urine
should be tested for pH,specific gravity,
sugar, protein and pyuria. Ultrasonography
of KUB region with MCU(micturiting
cystourethrogram) or IVP(intravenous
pyelography)
to
diagnose
reflux
nephropathy and obstructive uropathy .CT
scan and MRI of brain may be needed when
central diabetes insipidus is suspected.Urine
and plasma osmolality should be assessed
to decide if water diuresis is the cause of
polyuria. Isoosmolar /hyperosmolar urine is
found in children with solute diuresis or
normal children. Ratio of Urine and
plasma osmolality is more than 1.5. In
children with water diuresis (diabetes
isipidus and psychogenic polydipsia) urine
is hypoosmolar and ratio is less than 1.
Water is withheld for 8 to 12 hours.
Child is frequently weighed and closely
observed. The test should be stopped if
weight loss exceeds 5%. The period of water
deprivation should not exceed 4 hours in
infants and 8 hours in children. Urine
specific gravity and osmolality ,plasma
osmolality and serum sodium are tested
every 3 to 4 hours and at the end of the test
. Following water deprivation normal child
can achieve a urine osmolality of over 900
mosm/kg and ratio of urine to plasma
osmolality exceeds 1.5. Children with
diabetes insipidus(central or nephrogenic)
fail to show a rise of urine osmolality which
remains below 300 mosm/kg water and
ratio is less than 1.Vasopressin test should
be done to differentiate central from nephrogenic
diabetes insipidus. Children with primary
polydipsia concentrate urine to varying
degrees (>500mosm/kg) as prolonged
polyuria affects concentrating ability of
kidney due to washout of the medullary
counter-current concentration mechanism.
Water deprivation test should be
done only in selected patients suspected to
have water diuresis. It helps to differentiate
diabetes insipidus from psychogenic
polydipsia. The aim of water deprivation
Approach to a child with polyuria.
41
Vol. 25, No. 2 Apr. - June 2011
APPROACH TO ANTENATALLY DETECTED HYDRONEPHROSIS
*Dr. R. Premalatha
Twenty two years old pregnant
woman was referred to pediatric OPD with
history
of
antenatal
left
renal
hydronephrosis detected at 30 weeks of
gestation, for advice regarding continuing
her pregnancy. We looked at the following
parameters. Fetal growth and liquor volume
was adequate. Hydronephrosis was
unilateral and there were no other major
congenital malformations. Hence she was
advised to continue her pregnancy and to
review soon after the delivery.
follow up to detect and treat urinary tract
infection.
This case illustrates that antenatally
detected hydronephrosis requires close
follow up, imaging and surgical or
conservative management. In fetus,
urological abnormalities are the most
common, with the incidence being 1 in 100.
50% of all abnormalities detected by prenatal
ultrasound are due to hydronephrosis.
Significant Hydronephrosis:
On antenatal scan pelvic diameter
>10mm at 24-26 weeks gestation, ratio of
anterio-posterior (AP) pelvic diameter to AP
renal diameter greater than 0.5 and
caliectasis indicate significant hydronephrosis.
She delivered a normal weight male
baby at term. There was no abdominal
mass or palpable bladder. Urine stream was
good and the baby was feeding well. Baby
was started on antibiotic prophylaxis with
cephalexin and post natal ultra sound was
done on day 5, which showed left sided
moderate hydronephrosis. At 6 weeks of
age diuretic renogram showed left sided
pelviureteric junction obstruction with
differential renal function of 30% in left
kidney. Subsequently, micturating cystourethrogram
(MCUG) was done after administering
gentamycin 3mg/kg ½ hour before the
procedure, which revealed right sided grade
2 vesico-ureteric reflux (VUR).
Major causes:
}
Physiologic or non-obstructive dilatation of
upper urinary tract refers to mild dilatation,
where no cause is found and is transient.
}
Pelviureteric junction obstruction.
}
Vesico-ureteric reflux.
}
Posterior urethral valves.
}
Ureterocoele
Left PUJ obstruction with decreased
differential function was managed with
pyeloplasty and right grade 2 VUR was
managed conservatively with antibiotic
prophylaxis. The infant was advised close
}
Vesico ureteric junction obstruction.
}
Multi cystic dysplastic kidneys.
* Professor of Paediatrics, Paediatric Nephrologist .Bangalore Medical College & Research Institute
(BMCRI) K.R. Road, Bangalore 560002
42
Vol. 25, No. 2 Apr. - June 2011
Prenatal management:
few days of life causes renal pelvis to
shrink transiently. If first ultrasound is
Obstruction to urine flow occurring
normal it is repeated after 3 months. If
before 24 weeks of gestation causes
hydronephrosis is detected on post natal
dysplastic changes identifiable by an
ultrasound, at 6 weeks of age MCU and
increase in echogenecity of kidneys or
diuretic renogram are done. Diuretic
cortical cysts. If the obstruction is bilateral
renogram done at 6 weeks is more accurate,
and severe, amniotic fluid volume is
due to increased maturity of nephrons and
reduced and pulmonary hypoplasia occurs.
This may produce respiratory distress in the
increased GFR. MCU is done to detect
new born and need for ventilation. Hence,
vesico-ureteric reflux & posterior urethral
in presence of oligohydramnios, fetal growth
valves. Diuretic renogram is done to detect
restriction and other major congenital
pelvi-ureteric junction obstruction.
anomalies detected before 24 weeks,
If hydronephrosis is severe or bilateral
pregnancy may be terminated. After 32
weeks of gestation, fetus
or present in a solitary kidney or bladder is
is delivered
palpable urgent evaluation and management
prematurely in a tertiary hospital, if lung
is required. As complete obstruction has a
maturation is adequate and facilities are
potential to cause renal damage, urethral
available for management and obstruction is
catheter should be passed immediately to
managed postnatally. Fetal surgeries and
drain the bladder and urgent U/S and
management of cases between 24 to 32
MCU are done. If first ultra sound is
weeks is controversial. Bilateral hydronephrosis
normal, it is repeated after 5 days. After
without oligohydramnios and unilateral
release of obstruction, there will be a
hydronephrosis do not need intervention
diuretic phase requiring close monitoring
Post natal management:
and replacement of fluid and electrolytes.
Neonates are assessed for abdominal
Uro-sepsis has to be detected early and
mass due to hydronephrosis or palpable
treated adequately. In bilateral cases renal
bladder. Urine stream is observed and urine
function and electrolytes may be abnormal.
examined to detect urine infection. They are
Note that neonates take 1 week to
started on prophylactic antibiotic like
stabilize their s.creatinine to normal level of
cephlexin 10mg/kg, single daily dose for
0.4mg/dl from higher s.creatinine level at
first 3 months and thereafter septran 3mg/
birth which reflects maternal level.
kg or nitrofurantoin 1mg/kg is continued for
1year, to prevent urine infection. If imaging
Early detection of cases requiring
detects obstruction, prophylactic antibiotics
surgery and prompt referral to surgeons is
are stopped, to prevent emergence of
important. All children, whether managed
resistant organisms.
conservatively or surgically, require close
monitoring for UTI, hypertension, protinuria
First ultrasound is done 5 days after
and renal growth & function.
birth, as physiologic oliguria during first
43
Vol. 25, No. 2 Apr. - June 2011
Conclusion:
References:
Majority of antenatally detected
hydronephrosis resolve spontaneously. It is
important to evaluate at birth, monitor and
timely imaging to detect those requiring early
surgery, so that impairment in renal
function is prevented. Prophylactic antibiotic
is started in all neonates with
hydronephrosis, to prevent UTI.
44
1.
Consensus
Statement
on
Management of Antenatally Detected
Hydronephrosis. IPNG.IAP Indian
Pediatrics; 38: 1244-1251.
2.
Gillenwater, et al. Adult and
pediatric urology, 4th ed. Vol 1 2002,
Lippincott Williams and Wilkins,
USA.
Karnataka
Paediatric Journal
Reg.no.RN/68641/23/AL/TC/92
Vol. 25, No. ISSN
2 Apr. 09755152
- June 2011
Antimicrobial Resistance:
No action today,
No cure tomorrow
Is It Essential
Is the
right Dose
& Duration
4 Way Test
Is the Best
& First line
drug
Is It
Economical
and beneficial
to the patient
The Antimicrobial drugs therapy we think, say or do
Edited & Published by Dr.B Sanjeev Rai, Medicare center, Karangalpady, Mangalore 575003.
and Printed at Shrathi Printers & Publishers.Pvt. Ltd.Baikampady. Mangalore 575001
Editorial Office : Medicare Center, Karangalpady, Mangalore 575003,
45
email: raibs11@gmail.com

Journal of the IAP Karnataka State Branch CONTENTS

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