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Writer’s cramp as a presentation of L-2-hydroxyglutaric aciduria

L-2-hydroxyglutaric aciduria (L2HGA) is a neurometabolic disorder characterized by macrocephaly, seizures, progressive mental retardation, pyramidal signs, ataxia and tremor. Dystonia is an under-recognized feature of this entity in the literature. We report two siblings with L2HGA, one of whom pres...

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Detalles Bibliográficos
Autores principales: Termsarasab, Pichet, Frucht, Steven J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4711040/
https://www.ncbi.nlm.nih.gov/pubmed/26788335
http://dx.doi.org/10.1186/s40734-014-0009-9
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author Termsarasab, Pichet
Frucht, Steven J
author_facet Termsarasab, Pichet
Frucht, Steven J
author_sort Termsarasab, Pichet
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description L-2-hydroxyglutaric aciduria (L2HGA) is a neurometabolic disorder characterized by macrocephaly, seizures, progressive mental retardation, pyramidal signs, ataxia and tremor. Dystonia is an under-recognized feature of this entity in the literature. We report two siblings with L2HGA, one of whom presented with writer’s cramp followed by dystonia of the other hand. An elevated plasma lysine, highly elevated urine 2-hydroxyglutaric acid, and MRI with characteristic findings (leukoencephalopathy of bilateral subcortical white matter sparing central white matter) suggested the diagnosis, which was confirmed by genetic testing. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s40734-014-0009-9) contains supplementary material, which is available to authorized users.
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spelling pubmed-47110402016-01-19 Writer’s cramp as a presentation of L-2-hydroxyglutaric aciduria Termsarasab, Pichet Frucht, Steven J J Clin Mov Disord Case Report L-2-hydroxyglutaric aciduria (L2HGA) is a neurometabolic disorder characterized by macrocephaly, seizures, progressive mental retardation, pyramidal signs, ataxia and tremor. Dystonia is an under-recognized feature of this entity in the literature. We report two siblings with L2HGA, one of whom presented with writer’s cramp followed by dystonia of the other hand. An elevated plasma lysine, highly elevated urine 2-hydroxyglutaric acid, and MRI with characteristic findings (leukoencephalopathy of bilateral subcortical white matter sparing central white matter) suggested the diagnosis, which was confirmed by genetic testing. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s40734-014-0009-9) contains supplementary material, which is available to authorized users. BioMed Central 2014-12-11 /pmc/articles/PMC4711040/ /pubmed/26788335 http://dx.doi.org/10.1186/s40734-014-0009-9 Text en © Termsarasab and Frucht.; licensee BioMed Central Ltd. 2014 This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Termsarasab, Pichet
Frucht, Steven J
Writer’s cramp as a presentation of L-2-hydroxyglutaric aciduria
title Writer’s cramp as a presentation of L-2-hydroxyglutaric aciduria
title_full Writer’s cramp as a presentation of L-2-hydroxyglutaric aciduria
title_fullStr Writer’s cramp as a presentation of L-2-hydroxyglutaric aciduria
title_full_unstemmed Writer’s cramp as a presentation of L-2-hydroxyglutaric aciduria
title_short Writer’s cramp as a presentation of L-2-hydroxyglutaric aciduria
title_sort writer’s cramp as a presentation of l-2-hydroxyglutaric aciduria
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4711040/
https://www.ncbi.nlm.nih.gov/pubmed/26788335
http://dx.doi.org/10.1186/s40734-014-0009-9
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