Just mention Hemogram normal? Did you look for rickets?
What about the type and the confirmation?
Hepatomegaly and seizures
Hepatomegaly and seizures - what is the link?
Smilu Mohanlal - TNMC, Mumbai
Seema Alam - Pediatric Hepatologist, ILBS, New Delhi
Priya Kishnani - Pediatrician & Geneticist,
Duke University, North Carolina, USA
Mamta Muranjan – Pediatrician & Geneticist,
KEM Hospital, Mumbai
Manoj Ghoda – Gastroenterologist,
Gujarat Research & Med. Inst. Ahmd
Hepatomegaly and Seizures
– what is the link?
Dr. Smilu Mohanlal
Post Graduate student, Dept. of Pediatrics ,
T.N.M.C & Nair Hospital, Mumbai.
Under the guidance of:
Dr. Aabha Nagral
• 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 :
• 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.
• 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
• Developmental milestones- appropriate
• Vitals stable
• Anthropometry: Weight-9kg at 50th centile.
• No pallor, icterus, lymphadenopathy
• 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
• other systems: NAD
• 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
• An one year old male child with Hepatomegaly with
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