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Fatal kakeksi ved mitokondriel neurogastrointestinal encefalomyopati

Christina Engel Hoei-Hansen1, David Scheie2, Eva Loebner Lund2, Daniel Kondziella3, John Vissing3 & Ingelise Christiansen3
1) BørneUngeKlinikken, Rigshospitalet 2) Patologiafdelingen, Rigshospitalet 3) Neurologisk Klinik, Rigshospitalet

Ugeskr Læger 2019;181:V01190070
Ugeskr Læger 2019;181:V01190070

Christina Engel Hoei-Hansen, David Scheie, Eva Loebner Lund, Daniel Kondziella, John Vissing & Ingelise Christiansen:

Fatal cachexia caused by mitochondrial neuro-gastro-intestinal encephalomyopathy

Ugeskr Læger 2019;181:V01190070

In this case report, a 23-year-old normal-functioning young man was repeatedly admitted to the hospital with malnutrition 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 neurogastrointestinal encephalomyopathy is rare and often overlooked. In less advanced disease, stem cell transplantation can correct thymidine phosphorylase deficiency.

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