A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation
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Date
2019
Journal Title
Journal ISSN
Volume Title
Publisher
Lippincott Williams & Wilkins
Access Rights
info:eu-repo/semantics/closedAccess
Abstract
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. Copyright (c) 2018 Wolters Kluwer Health, Inc. All rights reserved.
Description
Keywords
autosomal recessive disorder, chronic intestinal pseudo-obstruction, mitochondrial neurogastrointestinal encephalomyopathy, thymidine phosphorylase
Journal or Series
Clinical Dysmorphology
WoS Q Value
Q4
Scopus Q Value
Q3
Volume
28
Issue
1
