Mitochondrial Neurogastrointestinal Encephalomyopathy Imitating Crohn’s Disease: A Rare Cause of Malnutrition
| Autor: | Jiří Dolina, Lenka Kučerová, Daniel Bartušek, Tomáš Honzík, Jan Mazanec, Lumír Kunovský, Milan Dastych |
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| Rok vydání: | 2018 |
| Předmět: |
medicine.medical_specialty
Crohn's disease business.industry Molecular genetic testing 05 social sciences Gastroenterology Disease Gene mutation medicine.disease Inflammatory bowel disease 03 medical and health sciences Malnutrition 0302 clinical medicine Anorexia nervosa (differential diagnoses) Internal medicine 0502 economics and business 030221 ophthalmology & optometry medicine 050211 marketing Thymidine phosphorylase business |
| Zdroj: | Journal of Gastrointestinal and Liver Diseases. 27:321-325 |
| ISSN: | 1842-1121 1841-8724 |
| Popis: | Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease caused by a mutation in the TYMP gene encoding thymidine phosphorylase. MNGIE causes gastrointestinal and neurological symptoms in homozygous individuals and is often misdiagnosed as anorexia nervosa, inflammatory bowel disease, or celiac disease. We present the case of a 26-year-old female with MNGIE, who was initially diagnosed with anorexia nervosa and Crohn’s disease. The diagnosis of MNGIE was established by biochemical confirmation of elevated serum and urine thymidine and deoxyuridine levels after multiple examinations and several years of disease progression and ineffective treatment. Subsequent molecular genetic testing demonstrated a homozygous TYMP gene mutation. MNGIE should be considered in patients with unexplained malnutrition, intestinal dysmotility, and atypical neurological symptoms. |
| Databáze: | OpenAIRE |
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