Reza ASHRAFI, Mahmoud and NIKKHAH, Ali and HOUSHMAND, Massoud and ARYANI, Omid (2011) L-2-Hydroxyglutaric Aciduria is a Diagnostic Indicator of Leukodystrophy: A Case Report. Iranian Journal of Child Neurology, 5 (4). pp. 37-38.
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Abstract
How to Cite this Article: Ashrafi MR, Nikkhah A, Houshmand M, Aryani O. L-2-Hydroxyglutaric Aciduria is a Diagnostic Indicator of Leukodystrophy: A CaseReport Iranian Journal of Child Neurology 2011;5(4):37-38.
L-2-Hydroxyglutaric aciduria is a rare autosomal recessive inherited neurometabolic disorder.It is characterized by slow progressive neurological dysfunction with cerebellar ataxia, pyramidal and extrapyramidal signs, intellectual decline, and seizures. Herein, we report a case of a 7-year-old boy from Tehran whose symptoms and signs indicated leukoencephalopathy with macrocephaly and motor delay.
| Item Type: | Article |
|---|---|
| Subjects: | STM Article > Medical Science |
| Depositing User: | Unnamed user with email support@stmarticle.org |
| Date Deposited: | 16 Feb 2023 10:06 |
| Last Modified: | 05 Aug 2025 03:48 |
| URI: | http://access.sent2promo.com/id/eprint/480 |
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