A Case Report of Homocystinuria With Dystonia and Stroke
Inherited homocystinuria is a rare autosomal recessive aminoacidopathy which through early diagnosis can prevent its severe neurologic and vascular complications. Here we report a 9-year-old girl with homocystinuria, presenting with sequential symptoms of bilateral lens dislocation, skeletal complic...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
SAGE Publishing
2014-09-01
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Series: | Child Neurology Open |
Online Access: | https://doi.org/10.1177/2329048X14545870 |