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Ann Indian Acad Neurol. 2019 Jul-Sep;22(3):325-327. doi: 10.4103/aian.AIAN_34_18.

Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalomyopathy-Like Syndrome with Polymerase-Gamma Mutations.

Author information

1
Department of Neurology, West China Hospital, Sichuan University, Sichuan Province, PR China.
2
Department of Geriatric Neurology, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, PR China.

Abstract

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.

KEYWORDS:

Leukoencephalopathy; mitochondrial disorders; mitochondrial neurogastrointestinal encephalomyopathy-like; polymerase-gamma gene

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