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

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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.

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Acknowledgments

We thank Dr P. Maeder for the interpretation of brain MRI.

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Authors and Affiliations

  1. Child Neurology Unit, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland

    Marine Jequier Gygax & Eliane Roulet-Perez

  2. Institute of Pathology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland

    Kathleen Meagher-Villemure

  3. Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands

    Cornelis Jakobs & Gajja S. Salomons

  4. Clinical Chemistry Laboratory, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland

    Olivier Boulat

  5. Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Clinique Infantile 02–35 Av. P. Decker 2, 1011, Lausanne, Switzerland

    Andrea Superti-Furga, Diana Ballhausen & Luisa Bonafé

  6. Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

    Andrea Superti-Furga

Authors
  1. Marine Jequier Gygax
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  2. Eliane Roulet-Perez
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  3. Kathleen Meagher-Villemure
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Correspondence to Luisa Bonafé.

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Jequier Gygax, M., Roulet-Perez, E., Meagher-Villemure, K. et al. Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria. Eur J Pediatr 168, 957–962 (2009). https://doi.org/10.1007/s00431-008-0869-9

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  • DOI: https://doi.org/10.1007/s00431-008-0869-9

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