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Updated: Jan 22, 2026

The Colon-26 Carcinoma Tumor-bearing Mouse as a Model for the Study of Cancer Cachexia
Published on: November 30, 2016
[Fatal cachexia caused by mitochondrial neuro-gastro-intestinal encephalomyopathy]
Christina Engel Hoei-Hansen1, David Scheie, Eva Loebner Lund
1chh@dadlnet.dk.
Abstract:
In this case report, a 23-year-old normal-functioning young man was repeatedly admitted to the hospital with mal-nutrition and pseudo-obstruction. External ophthalmoplegia, global muscular atrophy and demyelinating sensory-motor-autonomic neuropathy became evident. An MRI showed symmetrical white matter lesions and muscle biopsy atrophic muscle fibres. A TYMP mutation confirmed the diagnosis, and the patient had a rapidly fatal disease course. Mitochondrial neuro-gastro-intestinal encephalo-myopathy is rare and often overlooked. In less advanced disease, stem cell transplantation can correct thymidine phosphorylase deficiency.
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