title: Chronic intestinal pseudo-obstruction and neurological manifestations in early adulthood: considering MNGIE syndrome in differential diagnosis.
abstract: The mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) is a rare and life-threatening, autosomal recessive, multisystem disorder, caused by the mutations in the thymidine phosphorylase gene. Herein, we report a case of a 21 year-old male with a long history of intestinal pseudo-obstruction who was diagnosed with MNGIE syndrome after an extensive examination. In this case, our objective was to bring the gastroenterologist's attention to this difficult to diagnose syndrome in the coexistence of intestinal pseudo-obstruction and neurologic manifestations. The patient was a member of a consanguineous family of six children, in whom two sisters had died due to this disorder and one sister was affected and is still alive. The patient presented with cachexia, abdominal pain, diarrhea and muscle weakness, and was previously considered to have gluten sensitive enteropathy and treated with dietary solutions.
authors.affiliation: Department of Gastroenterology, Turkiye Yuksek Ihtisas Education and Research Hospital, Ankara, Turkey. erkinous@yahoo.com
authors.forename: Erkin
authors.initials: E
authors.lastname: Oztas
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Ozin
authors.forename: Fatih
authors.initials: F
authors.lastname: Onder
authors.forename: Ibrahim Koral
authors.initials: IK
authors.lastname: Onal
authors.forename: Dilek
authors.initials: D
authors.lastname: Oguz
authors.forename: Cetin
authors.initials: C
authors.lastname: Kocaefe
mesh_terms: D015746:Abdominal Pain / Q000235:genetics; D001466:Barium Sulfate; D002100:Cachexia / Q000235:genetics; D054022:Cerebrum / Q000473:pathology; D002908:Chronic Disease; D003287:Contrast Media; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D003967:Diarrhea / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000201:enzymology / Q000235:genetics* / Q000628:therapy; D008279:Magnetic Resonance Imaging; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics / Q000628:therapy; D009154:Mutation; D009422:Nervous System Diseases / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D010375:Pedigree; D013939:Thymidine Phosphorylase / Q000235:genetics; D015431:Weight Loss / Q000235:genetics; D055815:Young Adult
chemical_list: D003287:Contrast Media; D001466:Barium Sulfate; C543750:TYMP protein, human; D013939:Thymidine Phosphorylase