| CASE REPORT |
|
| Year : 2010 | Volume
: 5
| Issue : 2 | Page : 129-131 |
Homocystinuria: A rare condition presenting as stroke and megaloblastic anemia
Parveen Bhardwaj1, Ravi Sharma1, Minoo Sharma2
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
India
DOI: 10.4103/1817-1745.76110 PMID: 21559159
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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