Paper Information

Journal:   ARCHIVES OF IRANIAN MEDICINE   MAY 2013 , Volume 16 , Number 5; Page(s) 306 To 307.
 
Paper: 

CASE REPORT: CONGENITAL LENS DISLOCATION AND FATAL CEREBRAL VEIN THROMBOSIS IN A PATIENT WITH HOMOCYSTEINEMIA: A LESSON FOR URGENT SCREENING OF PEDIATRIC POPULATION

 
 
Author(s):  NOURANI KHOJASTEH HABIB*, AMIRI ABOLGHASEM
 
* HEMATOLOGY ONCOLOGY RESEARCH CENTER, NEMAZI HOSPITAL, SHIRAZ UNIVERSITY OF MEDICAL SCIENCES, SHIRAZ, IRAN
 
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.

 
Keyword(s): CEREBRAL VEIN THROMBOSIS, CONGENITAL HOMOCYSTEINEMIA, LENS DISLOCATION
 
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