Fatal kakeksi ved mitokondriel neurogastrointestinal encefalomyopati
Publikation: Bidrag til tidsskrift › Letter › Forskning › fagfællebedømt
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.
Bidragets oversatte titel | Fatal cachexia caused by mitochondrial neuro-gastro-intestinal encephalomyopathy |
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Originalsprog | Dansk |
Artikelnummer | V01190070 |
Tidsskrift | Ugeskrift for Laeger |
Vol/bind | 181 |
Udgave nummer | 24 |
Antal sider | 2 |
ISSN | 0041-5782 |
Status | Udgivet - 2019 |
Links
- https://ugeskriftet.dk/videnskab/fatal-kakeksi-ved-mitokondriel-neurogastrointestinal-encefalomyopati
Forlagets udgivne version
ID: 238486935