Cargando…
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...
Autores principales: | , |
---|---|
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 |
_version_ | 1782409906363564032 |
---|---|
author | Termsarasab, Pichet Frucht, Steven J |
author_facet | Termsarasab, Pichet Frucht, Steven J |
author_sort | Termsarasab, Pichet |
collection | PubMed |
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. |
format | Online Article Text |
id | pubmed-4711040 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT termsarasabpichet writerscrampasapresentationofl2hydroxyglutaricaciduria AT fruchtstevenj writerscrampasapresentationofl2hydroxyglutaricaciduria |