Differential diagnosis of mitochondrial neurogastrointestinal encephalomyopathy. First clinical description in Russia

S. A. Kurbatov; Курбатов С. А.; V. P. Fedotov; Федотов В. П.; P. G. Tsygankova; Цыганкова П. Г.; E. Y. Zakharova; Захарова Е. Ю.; S. N. Lipovka; Липовка С. Н.

doi:10.17650/2222-8721-2015-5-2-44-54

Differential diagnosis of mitochondrial neurogastrointestinal encephalomyopathy. First clinical description in Russia

Authors: Kurbatov S.A.¹, Fedotov V.P.², Tsygankova P.G.³, Zakharova E.Y.³, Lipovka S.N.⁴
Affiliations:
1. Regional Medical Diagnostic Centre LLT “Diagnostika-plus”
2. Regional Clinical Hospital
3. Russian Research Center for Medical Genetics RAMNS
4. Regional Medical Diagnostic Centre
Issue: Vol 5, No 2 (2015)
Pages: 44-54
Section: CLINICAL DISCUSSION
Published: 29.06.2015
URL: https://nmb.abvpress.ru/jour/article/view/117
DOI: https://doi.org/10.17650/2222-8721-2015-5-2-44-54
ID: 117

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Abstract

Mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) is a rare autosomal recessive progressive multisystem disorder. Most of MNGIE is caused by mutations in the gene encoding thymidine phosphorylase (TYMP), locus 22q13. Mitochondrial dysfunction represents multiple deletions and depletion of mtDNA. We present a case of MNGIE with a novel mutation in the position c.1001T>G of TYMP gene, hypergonadotropic hypogonadism, decrement of compound muscle action potential following repetitive nerve stimulation on EMG which was not previously described in literature and differential diagnoses MNGIE with other conditions.