Chronic Intestinal Pseudo-obstruction and Neurological Manifestations in Early Adulthood: Considering MNGIE Syndrome in Differential Diagnosis
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Erkin Oztas1, Yasemin Ozin1, Fatih Onder1, Ibrahim Koral Onal1, Dilek Oguz1, Cetin Kocaefe2
1) Department of Gastroenterology, Turkiye Yuksek Ihtisas Education and Research Hospital;
2) Department of Medical Biology, Hacettepe University School of Medicine, Ankara, Turkey
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.
Key words
Intestinal pseudo-obstruction - neurologic symptoms - MNGIE Syndrome
