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A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation

Erdogan, Mehmet A.a; Seckin, Yuksela; Harputluoglu, Muhsin M.a; Karincaoglu, Meliha; Aladag, Murata; Caliskan, Ali R.a; Bilgic, Yilmaza; Yildirim, Oguzhana; Cagin, Yasir F.a; Atayan, Yahyaa; Cengiz, Ayse N.b; Emul, Cihatb; Esener, Zeynepc; Erbay, Mehmet F.d; Tekedereli, Ibrahimc

doi: 10.1097/MCD.0000000000000250
ORIGINAL ARTICLES

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disorder characterized by gastrointestinal dysmotility, cachexia, ptosis, peripheral neuropathy and leukoencephalopathy. The diagnosis is often not made until 5–10 years after the onset of symptoms. MNGIE is caused by mutations in thymidine phosphorylase gene TYMP. Here, we present a 19-year-old boy with MNGIE who had a chronic intestinal pseudo-obstruction, and we describe his family history. Genetic analysis revealed a novel homozygous c.765+1G>C intronic mutation which is expected to disrupt splicing of TYMP in the patient. Family screening revealed that the brother was also affected and the mother was a carrier. MNGIE should be considered and genetic testing instigated if individuals with cachexia have neuromuscular complaints or symptoms of chronic intestinal pseudo-obstruction.

Departments of aGastroenterology

bInternal Diseases

cMedical Biology and Genetics

dRadiology, Faculty of Medicine, Inonu University, Malatya, Turkey

Correspondence to Mehmet A. Erdogan, MD, Department of Gastroenterology, Faculty of Medicine, Inonu University, 44210 Malatya, Turkey Tel: +90 505 496 5191; fax: +90 850 297 9003; e-mail: mehmet_ali_erdogan@hotmail.com

Received June 4, 2018

Accepted October 15, 2018

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