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Clinical Problem:

Ira Shah
Medical Sciences Department, Pediatric Oncall, Mumbai, India.

Address for Correspondence: Dr Ira Shah, 1, B Saguna, 271, B St Francis Road, Vile Parle {W}, Mumbai 400056, India.

A 2½ year old boy presented with abdominal distension for 2 years. This was preceded by episode of vomiting that required hospitalization and intravenous fluids for 8-10 days. There was no hematemesis, malena or jaundice. On examination, weight was 11.6 kg. He had splenohepatomegaly. Other systems were normal. Ultrasound {USG} of abdomen with colour doppler of portal system showed prominent caudate lobe of liver with coarse echotexture, splenomegaly, non-visualization of portal vein and numerous collaterals at splenic hilum, around gall bladder and along anterior abdominal wall. Splenic vein and superior mesenteric veins were also not seen. Liver function tests showed bilirubin of 0.5 mg, dl, SGOT – 47 IU, L, SGPT – 37 IU, L, albumin of 2.8 gm, dl. Esophageogastroscopy {OGDscopy} showed single grade 2 varix. Liver biopsy was normal. His antiphospholid antibody, anticardiolipin antibodies were negative and Protein C, Protein S, antithrombin III levels were normal. Urine for homocysteine was positive. Ophthalmological evaluation showed no lens dislocation, echocardiography was normal, serum vitamin B12 levels were normal {417}. He was continued on propranolol and folic acid.

Is this homocystinuria_?

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