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<p>A&#xa0;two-year-old child was found lifeless in bed after experiencing brief gastrointestinal symptoms.</p><p>Histological examination revealed no abnormalities, but electron microscopy showed clear atypia of the mitochondria with linear paracrystalline inclusions.</p><p>Genetic testing revealed variants of unclear significance in the <i>TYMP</i> and <i>AIFM1</i> genes and a&#xa0;heterozygous pathogenic mutation in the <i>GCDH</i> gene.</p><p>To date, no clear causality between the mutations found and the mitochondrial morphology can be established, but in vitro experiments show certain analogies to the structural changes in the mitochondria detected here.</p>

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Unerwarteter Tod eines zweijährigen Kindes: Wie die Elektronenmikroskopie half, der Ursache auf die Spur zu kommen

  • 期刊论文

  • 发表日期：

    2026年1月15日

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  • Thomas Menter,
  • Dorothea Wand,
  • Maya Caroline André

摘要

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 causality between the mutations found and the mitochondrial morphology can be established, but in vitro experiments show certain analogies to the structural changes in the mitochondria detected here.