Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.

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Serval ID
serval:BIB_E40482F93A01
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.
Journal
European Journal of Pediatrics
Author(s)
Gygax Marine Jequier, Roulet-Perez Eliane, Meagher-Villemure Kathleen, Jakobs Cornelis, Salomons Gajja S., Boulat Olivier, Superti-Furga Andrea, Ballhausen Diana, Bonafe Luisa
ISSN
1432-1076[electronic]
Publication state
Published
Issued date
2009
Peer-reviewed
Oui
Volume
168
Number
8
Pages
957-962
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Review
Abstract
Inherited metabolic disorders are the cause of a small but significant number of sudden unexpected deaths in infancy. We report a girl who suddenly died at 11 months of age, during an intercurrent illness. Autopsy showed spongiform lesions in the subcortical white matter, in the basal ganglia, and in the dentate nuclei. Investigations in an older sister with developmental delay, ataxia, and tremor revealed L-2-hydroxyglutaric aciduria and subcortical white matter changes with hyperintensity of the basal ganglia and dentate nuclei at brain magnetic resonance imaging. Both children were homozygous for a splice site mutation in the L2HGDH gene. Sudden death has not been reported in association with L-2-hydroxyglutaric aciduria so far, but since this inborn error of metabolism is potentially treatable, early diagnosis may be important.
Keywords
Brain Diseases, Metabolic, Inborn/complications, Brain Diseases, Metabolic, Inborn/drug therapy, Child, Death, Sudden/etiology, Death, Sudden/pathology, Developmental Disabilities/etiology, Family Health, Female, Glutarates/urine, Humans, Infant, Magnetic Resonance Imaging, Sudden Infant Death/etiology, Sudden Infant Death/pathology
Pubmed
Web of science
Open Access
Yes
Create date
24/02/2009 17:16
Last modification date
14/02/2022 7:57
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