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Case Reports
. 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

Hongyan Huang  1 , Xinglong Yang  2 , Ling Liu  1 , Yanming Xu  1
Affiliations
Case Reports

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

Hongyan Huang et al. Ann Indian Acad Neurol. 2019 Jul-Sep.

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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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Leukoencephalopathy in a man with mitochondrial neurogastrointestinal encephalomyopathy-like associated with polymerase-gamma gene mutations and fluid-attenuated inversion recovery (a and c) and T2-weighted (b and d) axial brain magnetic resonance images show bilateral periventricular white matter hyperintensity
See this image and copyright information in PMC

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