Hepatomegaly and seizures

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  • Just mention Hemogram normal? Did you look for rickets?
  • What about the type and the confirmation?
  • Hepatomegaly and seizures

    1. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 12. Liver biopsy Preserved lobular architecture and cord pattern. Hepatocytes are swollen with pale cytoplasm and eccentric lobulated nuclei with intracytoplasmic glycogen present
    13. 13. Diagnosis Glycogen storage disease Type???
    14. 14. Management • Special dietary advice • With routine monitoring of liver function tests ,lipid profile, blood sugar. • Serial USG Abdomen monitoring.

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