Diagnostic Dilemma

Hepatosplenomegaly


Author: Pediatric Oncall
Question
A 3-year-old born of non-consanguineous marriage presented with progressive abdominal distension after 4 months of age. There was no bleeding, seizures, or jaundice. They consulted a physician for the abdominal distension and an ultrasound of the abdomen was done which showed large hepatomegaly. The child was subsequently referred for further management. She was immunized to date and had received Hepatitis B vaccine also and was on a regular full diet. Milestones were normal. On examination, weight was 12 kg, height was 87 cm. She had doll’s facies and large hepatomegaly with splenomegaly. Other systems were normal. Investigations showed:
• Hemoglobin = 9.8 gm/dl
• WBC count = 6,700/cumm (12% polymorphs, 85% lymphocytes, 3% eosinophils)
• Platelet count = 6,40,000/cumm
• Bilirubin = 0.7 mg/dl
• SGOT = 87 IU/L
• SGPT = 28 IU/L
• Total proteins = 6.9 gm/dl, albumin = 3.6 gm/dl
• Alkaline phosphatase = Normal
• Prothrombin Time, Partial thromboplastin time = Normal
• Random blood sugar = 106 mg/dl
• Ultrasound abdomen = Gross hepatomegaly
• Serum lactate = 85.6 mg/dl (elevated).
• Fundus = Normal


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