1. Hepatomegaly and seizures - what is the link?
Presenter:
Smilu Mohanlal - TNMC, Mumbai
Moderator:
Seema Alam - Pediatric Hepatologist, ILBS, New Delhi
Panelists
Priya Kishnani - Pediatrician & Geneticist,
Duke University, North Carolina, USA
Mamta Muranjan – Pediatrician & Geneticist,
KEM Hospital, Mumbai
Manoj Ghoda – Gastroenterologist,
Gujarat Research & Med. Inst. Ahmd

2. Hepatomegaly and Seizures
– what is the link?
Presented by:
Dr. Smilu Mohanlal
Post Graduate student, Dept. of Pediatrics ,
T.N.M.C & Nair Hospital, Mumbai.
Under the guidance of:
Dr. Aabha Nagral

3. Case:
•
• Abdominal distension noticed at the age
of one and half year.
A 5 five year old boy born of 3rd degree consanguineous marriage , 2nd by birth order ,
Hindu by religion, Gujarati by caste presented with complaints of :

4. History continued:
• Parents noticed abdominal distension
insidious onset , gradually progressive in
nature since birth.
• No history suggestive of jaundice, no h/o
recurrent fever/constipation, no h/o drug
intake, No h/o muscle weakness.
• Parents however complained of increased
appetite in the child in the form of early
morning 3 am awakening for a milk feed.

5. Contd..
• Followed by every 2 hourly demand feed
by the child, failure to provide the same
made the child irritable and restless.
• The child was born full term normal
delivery , no H/O NICU stay, no family H/O
any liver disease or bleeding disorder.
• The child was gaining weight adequately
for age.
• Developmental milestones- appropriate
for age

6. On examination:
• Vitals stable
• Anthropometry: Weight-9kg at 50th centile.
Height-80cm 50thcentile.
• No pallor, icterus, lymphadenopathy
clubbing.
• No dysmorphic features/ facies
• No features of rickets.
• Systemic examination:
• Per Abdomen: soft, non tender liver-6cm
below costal margin with a span of 11cm
,left lobe more than right lobe, spleen not
palpable.
• other systems: NAD

7. • Two episodes of GTC seizures at the age
of one and half year
• Recovered by IV infusion at local hospital
with immediate regain of sensorium

8. Initial impression
• An one year old male child with Hepatomegaly with
seizures
Differentials: Metabolic Liver Disease
1. Glycogen Storage Disorder
2. Fatty acid oxidation defect
3. Milder Variant of Congenital Disorder Of Glycosylation
4. Cholesterol ester storage disorder with seizure disease

9. Investigations
INVESTIGATION
JUNE
AUGUST
OCTOBER
T.PROTEIN/
S.ALBUMIN
(gm%)
7.4/
4.5
7.3/4.0
7.7/4.4
S.G.P.T(U/L)
1227
589
1450
S.G.O.T(U/L)
1529
706
2156
ALK.PHOS(U/L)
266
290
197
T.BILI/D.BILI
(mg%)
0.8/
0.18
0.64/
0.13
0.55/0.22
GGT(15-85)
256
133
139
INR
1
1
1
TRIGLYCERIDE
(30-200mg%)
185
TOTAL
CHOLESTEROL
(140-240mg%)
181
FASTING RBS
109
100
50
S.URIC ACID(37.5mg%)
4.3

10. Investigations contd..
•
•
•
•
Complete Hemogram- Normal.
S.Lactate levels- Normal
Viral markers negative
USG Abdomen: Hepatomegaly with no other
abnormality.
• Urine reducing substances- Negative, CPK-normal
• Aminoacidogram both urine &plasma-Negative
• Calcium profile - normal

11. FINAL IMPRESSION
• Progressive hepatomegaly without
splenomegaly with seizures (one documented
hypoglycemic episode) and raised liver
enzymes with normal synthetic and
coagulation liver function

12. Liver biopsy
Preserved lobular
architecture and
cord pattern.
Hepatocytes are
swollen with pale
cytoplasm and
eccentric lobulated
nuclei with
intracytoplasmic
glycogen present

13. Diagnosis
Glycogen storage disease
Type???

14. Management
• Special dietary advice
• With routine monitoring of liver
function tests ,lipid profile, blood
sugar.
• Serial USG Abdomen monitoring.