Leukoencephalopathy in mitochondrial neurogastrointestinal encephalomyopathy-like syndrome with polymerase-gamma mutations

• Main Authors: Hongyan Huang, Xinglong Yang, Ling Liu, Yanming Xu
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2019-01-01
• Series: Annals of Indian Academy of Neurology
• Subjects: Leukoencephalopathy; mitochondrial neurogastrointestinal encephalomyopathy-like; mitochondrial disorders; polymerase-gamma gene
• Online Access: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2019;volume=22;issue=3;spage=325;epage=327;aulast=Huang
• ISSN: 0972-2327; 1998-3549

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome, caused by mutations in the thymidine phosphorylase gene, manifests as a multisystemic disorder characterized by severe gastrointestinal dysmotility, cachexia, ptosis and ophthalmoparesis, peripheral neuropathy, and leukoencephalopathy. These clinical manifestations, with the exception of leukoencephalopathy, are mimicked by MNGIE-like syndrome, linked to polymerase-gamma (POLG) gene. Here, we report a 49-year-old Chinese man with MNGIE-like syndrome involved leukoencephalopathy and was associated with novel POLG mutations. This case expands the clinical spectrum of MNGIE-like syndrome.