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...
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doaj-f360617f3a3548b193019ed30a0ae10d2020-11-25T03:44:12ZengSAGE PublishingChild Neurology Open2329-048X2014-09-01110.1177/2329048X14545870A Case Report of Homocystinuria With Dystonia and StrokeArezoo Rezazadeh MD0Shahram Oveisgharan MD1Gholamali Shahidi MD2Reza Naghdi MD3 Department of Neurology, Valiasr Hospital, Khoramshahr, Iran Department of Neurology, Tehran Uuniversity of Medical Sciences, Shariati Hospital, Tehran, Iran Department of Neurology, Iran University of Medical Sciences, Rasoole-Akram Hospital, Tehran, Iran Department of Internal Medicine, Valiasr Hospital, Khoramshahr, IranInherited 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 complication, and eventually dystonia from the age of 4 years. Laboratory evaluation revealed severe high serum homocysteine level. Although pathophysiologically unexplained, evidence of deep white matter watershed infarct along with remarkable ipsilateral carotid stenosis was detected on the contralateral side of the dystonia in the neuroimaging. Treatment with high dose of pyridoxine relieved limb and gait dystonia significantly, while carotid stenosis remained unchanged. Therefore, homocysteine might have both structural and irreversible effect and functional and reversible impact that could be overcome even in late stages.https://doi.org/10.1177/2329048X14545870 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Arezoo Rezazadeh MD Shahram Oveisgharan MD Gholamali Shahidi MD Reza Naghdi MD |
spellingShingle |
Arezoo Rezazadeh MD Shahram Oveisgharan MD Gholamali Shahidi MD Reza Naghdi MD A Case Report of Homocystinuria With Dystonia and Stroke Child Neurology Open |
author_facet |
Arezoo Rezazadeh MD Shahram Oveisgharan MD Gholamali Shahidi MD Reza Naghdi MD |
author_sort |
Arezoo Rezazadeh MD |
title |
A Case Report of Homocystinuria With Dystonia and Stroke |
title_short |
A Case Report of Homocystinuria With Dystonia and Stroke |
title_full |
A Case Report of Homocystinuria With Dystonia and Stroke |
title_fullStr |
A Case Report of Homocystinuria With Dystonia and Stroke |
title_full_unstemmed |
A Case Report of Homocystinuria With Dystonia and Stroke |
title_sort |
case report of homocystinuria with dystonia and stroke |
publisher |
SAGE Publishing |
series |
Child Neurology Open |
issn |
2329-048X |
publishDate |
2014-09-01 |
description |
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 complication, and eventually dystonia from the age of 4 years. Laboratory evaluation revealed severe high serum homocysteine level. Although pathophysiologically unexplained, evidence of deep white matter watershed infarct along with remarkable ipsilateral carotid stenosis was detected on the contralateral side of the dystonia in the neuroimaging. Treatment with high dose of pyridoxine relieved limb and gait dystonia significantly, while carotid stenosis remained unchanged. Therefore, homocysteine might have both structural and irreversible effect and functional and reversible impact that could be overcome even in late stages. |
url |
https://doi.org/10.1177/2329048X14545870 |
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