A Case Report of Homocystinuria With Dystonia and Stroke

Author:

Rezazadeh Arezoo1,Oveisgharan Shahram2,Shahidi Gholamali3,Naghdi Reza4

Affiliation:

1. Department of Neurology, Valiasr Hospital, Khoramshahr, Iran

2. Department of Neurology, Tehran Uuniversity of Medical Sciences, Shariati Hospital, Tehran, Iran

3. Department of Neurology, Iran University of Medical Sciences, Rasoole-Akram Hospital, Tehran, Iran

4. Department of Internal Medicine, Valiasr Hospital, Khoramshahr, Iran

Abstract

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.

Publisher

SAGE Publications

Subject

General Economics, Econometrics and Finance

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