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Arch Iran Med. 2013 May;16(5):306-7. doi: 013165/AIM.0013.

Congenital lens dislocation and fatal cerebral vein thrombosis in a patient with homocysteinemia: a lesson for urgent screening of pediatric population.

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  • 1Hematology Oncology Research Center, Nemazi Hospital , Shiraz University of Medical Sciences, Shiraz, Iran. habib.noorani31@yahoo.com

Abstract

Congenital homocysteinemia is a genetic disease with various clinical manifestations such as thrombosis, lens dislocation and mental retardation and osteoporosis, so early diagnosis is important for decreasing the mortality and morbidity especially in pediatric populations. Here we describe a child with a presentation of coma with a past history of lens operation with unfortunate fatal clinical course, and a final diagnosis of congenital homocysteinemia.

PMID:
23641747
[PubMed - indexed for MEDLINE]
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