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

Journal of Clinical Movement Disorders
Pichet Termsarasab, Steven J Frucht

Abstract

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.

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Citations

Oct 27, 2018·Movement Disorders Clinical Practice·Malco RossiMarcelo Merello
Apr 12, 2021·Parkinsonism & Related Disorders·Maria João MalaquiasMarina Magalhães
Aug 25, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Aysegul GunduzMeral E Kiziltan

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