Fatal kakeksi ved mitokondriel neurogastrointestinal encefalomyopati

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

Fatal kakeksi ved mitokondriel neurogastrointestinal encefalomyopati

Translated title of the contribution: Fatal cachexia caused by mitochondrial neuro-gastro-intestinal encephalomyopathy

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

Research output: Contribution to journal › Letter › Research › peer-review

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.

Translated title of the contribution	Fatal cachexia caused by mitochondrial neuro-gastro-intestinal encephalomyopathy
Original language	Danish
Article number	V01190070
Journal	Ugeskrift for Laeger
Volume	181
Issue number	24
Number of pages	2
ISSN	0041-5782
Publication status	Published - 2019

Access to Document

https://ugeskriftet.dk/videnskab/fatal-kakeksi-ved-mitokondriel-neurogastrointestinal-encefalomyopati

Cite this

@article{2bce2e2d49b7470b8448cfb4943a6e4b,

title = "Fatal kakeksi ved mitokondriel neurogastrointestinal encefalomyopati",

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.",

author = "Hoei-Hansen, {Christina Engel} and David Scheie and Lund, {Eva Loebner} and Daniel Kondziella and John Vissing and Ingelise Christiansen",

year = "2019",

language = "Dansk",

volume = "181",

journal = "Ugeskrift for Laeger",

issn = "0041-5782",

publisher = "Almindelige Danske Laegeforening",

number = "24",

}

TY - JOUR

T1 - Fatal kakeksi ved mitokondriel neurogastrointestinal encefalomyopati

AU - Hoei-Hansen, Christina Engel

AU - Scheie, David

AU - Lund, Eva Loebner

AU - Kondziella, Daniel

AU - Vissing, John

AU - Christiansen, Ingelise

PY - 2019

Y1 - 2019

N2 - 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.

AB - 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.

M3 - Letter

C2 - 31267951

VL - 181

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

IS - 24

M1 - V01190070

ER -