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Updated: Jan 17, 2026

An Alternative Approach for Sample Preparation with Low Cell Number for TEM Analysis
Published on: October 12, 2016
[Unexpected death of a two-year-old child: How electron microscopy helped to identify the potential cause]
Thomas Menter1, Dorothea Wand2, Maya Caroline André3
1Pathologie, Institut für medizinische Genetik und Pathologie, Universitätsspital Basel, Schönbeinstrasse 40, 4031, Basel, Schweiz. Thomas.Menter@usb.ch.
Abstract:
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.

