[Unexpected death of a two-year-old child: How electron microscopy helped to identify the potential cause].

Abstract excerpt

A two-year-old child was found lifeless in bed after experiencing brief gastrointestinal symptoms.Histological examination revealed no abnormalities, but electron microscopy showed clear atypia of the mitochondria with linear paracrystalline inclusions.Genetic testing revealed variants of unclear significance in the TYMP and AIFM1 genes and a heterozygous pathogenic mutation in the GCDH gene.To date, no clear...

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• Child, Preschool
• Death, Sudden
• Microscopy, Electron
• Mitochondria
• Mutation