Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.
Fiche publication
Date publication
mars 2024
Journal
Forensic science international. Genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr MANDEL Jean-Louis
Tous les auteurs :
Krebs-Drouot L, Schalk A, Schaefer E, Keyser C, Gonzalez A, Calmels N, Wardé MA, Oertel L, Acquaviva CÉ, Mandel JL, Farrugia A
Lien Pubmed
Résumé
Sudden Unexplained Death in Childhood (SUDC) needs to be fully assessed considering its impact on the family, parents and siblings. Inborn Errors of Metabolism (IEM) such as Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) should be taken into consideration when SUDC occurres. Our aim is to present a family with two successive SUDC and to discuss the post-mortem genetics investigations revealing an IEM implication.
Mots clés
ACADM, Fatty acid oxidation defect, MCAD deficiency, Metabolic disease, Sudden death, TERCL
Référence
Forensic Sci Int Genet. 2024 03 2;71:103028