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

Jequier Gygax, Marine ; Roulet-Perez, Eliane ; Meagher-Villemure, Kathleen ; Jakobs, Cornelis ; Salomons, Gajja ; Boulat, Olivier ; Superti-Furga, Andrea ; Ballhausen, Diana ; Bonafé, Luisa

In: European Journal of Pediatrics, 2009, vol. 168, no. 8, p. 957-962

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    Titre
    • Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria
    Auteur
    • Jequier Gygax, Marine. Child Neurology Unit, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    • Roulet-Perez, Eliane. Child Neurology Unit, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    • Meagher-Villemure, Kathleen. Institute of Pathology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    • Jakobs, Cornelis. Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    • Salomons, Gajja. Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    • Boulat, Olivier. Clinical Chemistry Laboratory, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    • Superti-Furga, Andrea. Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Clinique Infantile 02-35 Av. P. Decker 2, 1011, Lausanne, Switzerland
    • Ballhausen, Diana. Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Clinique Infantile 02-35 Av. P. Decker 2, 1011, Lausanne, Switzerland
    • Bonafé, Luisa. Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Clinique Infantile 02-35 Av. P. Decker 2, 1011, Lausanne, Switzerland
    Type de document
    • Postprint
    Langue
    • Inglese
    Publié dans
    • European Journal of Pediatrics, 2009, vol. 168, no. 8, p. 957-962. Springer-Verlag
    Autre version électronique
    Identifiant OAI-PMH
    • oai:doc.rero.ch:310611
    Summary
    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 11months 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