Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.
European Journal of Pediatrics
Publication types: Case Reports ; Journal Article ; Review
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.
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
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