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Year : 2010  |  Volume : 5  |  Issue : 2  |  Page : 129-131

Homocystinuria: A rare condition presenting as stroke and megaloblastic anemia

1 Department of Pediatrics, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India
2 Department of Physiology, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India

Correspondence Address:
Parveen Bhardwaj
HIG-8, Housing Board Colony, Jakhoo, Shimla - 171 002, Himachal Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/1817-1745.76110

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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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