EXTRAHEPATIC PORTAL VEIN OBSTRUCTION WITH HOMOCYSTINURIA

 
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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.


Clinical Problem :
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.


Question :
Is this homocystinuria_?

Expert Opinion :
Homocystinuria is an amino acid disorder. Most individuals are lacking, or have low function, of the enzyme cystathionine beta-synthase {CBS}, leading to a buildup of methionine and homocysteine in the body. Clinical manifestations include growth delays, psychiatric disturbances, delayed developmental milestones, and learning disabilities or intellectual disabilities. If untreated, homocystinuria can cause lens dislocation and glaucoma, osteoporosis, scoliosis, heart disease or stroke due to thrombi, or pancreatitis. Mutations in the CBS, MTR {methionine synthase}, MTRR {methionine synthase reductase}, and MTHFR genes cause homocystinuria. Presence of homocystinuria in urine may be false positive. Thus a positive test must be confirmed with serum methionine levels. A positive screening test depends upon protein ingestion. False positive screens is present {these include heat-damaged specimen, or antibiotic therapy}. Methionine levels of up to 2 µ mol, mL characterize cystathionine synthase deficiency. In our patient, serum methionine was not elevated, thus, it is unlikely to be homocystinuria. His repeat urine for homocystinuria was negative after 1 month of folic acid.


Correct Answers :  yes 17%
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