Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis

Objective

Homocystinuria is an inborn error of amino acid metabolism caused by cystathionine beta-synthase deficiency that affects methionine metabolism. The clinical features are heterogeneous ranging from mental retardation, ectopia lentis, and osteoporosis to vascular events such as deep vein thrombosis, sagital sinus thrombosis, and myocardial infarction. Cerebral sinovenous thrombosis (CVST) is an unusual disorder in children and requires prompt and accurate management. Some causal factors for the

development of CVST differ between children and adults. The majority of cases with CSVT are found to have an underlying cause for thrombosis like dehydration, infections, prothrombotic and hematologic disorders, malignancy and trauma.

Although homocystinuria is usually associated with ischemic strokes, CVST as initial clinical presentation of homocystinuria is rare in children.

In this article, we presented a 10-year old boy with seizure, hemiparesis, and ataxia due to CSVT caused by homocystinuria.