A case report of Megalencephalic leukoencephalopathy with subcortical cysts, a rare inherited autosomal recessive leukodystrophy, in a Nepalese child

Authors

  • Manoj Bhattarai Department of Radiodiagnosis and Imaging, B.P. Koirala Institute of Health Sciences, Dharan
  • Ashish Mohan Bhattarai Department of Medicine, Nepal Police Hospital, Kathmandu

DOI:

https://doi.org/10.3126/jonmc.v6i2.19574

Keywords:

Macrocephaly, Megalencephalic leukoencephalopathy with subcortical cysts, Nepalese

Abstract

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited autosomal recessive leukodystrophy due to mutations in MLC1 or HEPACAM gene and have typical and characteristic neuroimaging findings. This article reports a case of 13 months old Nepalese male child with diagnosis of MLC.

Journal of Nobel Medical College

Volume 6, Number 2, Issue 11, July-December 2017, 72-75

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Published

2018-04-05

How to Cite

Bhattarai, M., & Bhattarai, A. M. (2018). A case report of Megalencephalic leukoencephalopathy with subcortical cysts, a rare inherited autosomal recessive leukodystrophy, in a Nepalese child. Journal of Nobel Medical College, 6(2), 72–75. https://doi.org/10.3126/jonmc.v6i2.19574

Issue

Vol. 6 No. 2 (2017)

Section

Case Reports

License

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