Homocystinuria: A rare condition presenting as stroke and megaloblastic anemia

同型半胱氨酸尿症:一种罕见疾病,可表现为中风和巨幼细胞性贫血

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Abstract

Homocystinuria is an inborn error of amino acid metabolism in which homocystine accumulates in the blood and produces a slowly evolving clinical syndrome. We are presenting a case of a 4-year-old female child who presented to us with stroke and also had megaloblastic anemia. She was diagnosed as having homocystinuria type-1, and she responded to treatment.

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