title: Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.
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.
authors.affiliation: Department of Pediatrics, Child Neurology Unit, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
authors.forename: Marine
authors.initials: M
authors.lastname: Jequier Gygax
authors.forename: Eliane
authors.initials: E
authors.lastname: Roulet-Perez
authors.forename: Kathleen
authors.initials: K
authors.lastname: Meagher-Villemure
authors.forename: Cornelis
authors.initials: C
authors.lastname: Jakobs
authors.forename: Gajja S
authors.initials: GS
authors.lastname: Salomons
authors.forename: Olivier
authors.initials: O
authors.lastname: Boulat
authors.forename: Andrea
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: Diana
authors.initials: D
authors.lastname: Ballhausen
authors.forename: Luisa
authors.initials: L
authors.lastname: Bonafé
mesh_terms: D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D002648:Child; D003645:Death, Sudden / Q000209:etiology* / Q000473:pathology; D002658:Developmental Disabilities / Q000209:etiology; D005192:Family Health; D005260:Female; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D013398:Sudden Infant Death / Q000209:etiology / Q000473:pathology
chemical_list: D005977:Glutarates; C019417:alpha-hydroxyglutarate