Abstract
ISCHAEMIC STROKE IN A CHILD: DUE TO A RARE INBORN ERROR OF METABOLISM

*Kiran Shrivastava and **Jayashree Nadkarni

ABSTRACT

Homocysteinemia (Homocysteinuria) is a rare inborn error of amino acid metabolism that has severe but preventable neurovascular complications. We present a case of a 10 year old child who had bilateral anterior lens dislocation, mental retardation, hemiparesis, refractory seizures, stroke and Marfanoid features. He was diagnosed with Homocysteinemia on the basis of raised serum Homocysteine levels and response to Pyridoxine. Homocysteinemia must be considered in pediatric stroke syndromes.

Keywords: Homocysteinemia, Homocysteine, Marfanoid.


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