Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.
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.
Jequier Gygax
Marine
M
Department of Pediatrics, Child Neurology Unit, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
Roulet-Perez
Eliane
E
Meagher-Villemure
Kathleen
K
Jakobs
Cornelis
C
Salomons
Gajja S
GS
Boulat
Olivier
O
Superti-Furga
Andrea
A
Ballhausen
Diana
D
Bonafé
Luisa
L
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
D005977:Glutarates; C019417:alpha-hydroxyglutarate