Annals of Indian Academy of Neurology
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Leukoencephalopathy in mitochondrial neurogastrointestinal encephalomyopathy-like syndrome with polymerase-gamma mutations

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

Correspondence Address:
Yanming Xu,
Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan Province, 610041
PR China
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aian.AIAN_34_18

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.

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