Megalencephalic leukoencephalopathy with subcortical cysts in all three siblings of a non-Aggarwal Indian family

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare neurodegenerative disease seen mainly in the Aggarwal community in India. It is characterized by early-onset macrocephaly with mild motor developmental delay, gradual onset ataxia, spasticity, seizures and usually late onset...

Full description

Bibliographic Details
Main Authors: Mani Kant Kumar, Brish Bhanu Singh
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2012-01-01
Series:Annals of Indian Academy of Neurology
Subjects:
Online Access:http://www.annalsofian.org/article.asp?issn=0972-2327;year=2012;volume=15;issue=3;spage=214;epage=217;aulast=Kumar
Description
Summary:Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare neurodegenerative disease seen mainly in the Aggarwal community in India. It is characterized by early-onset macrocephaly with mild motor developmental delay, gradual onset ataxia, spasticity, seizures and usually late onset mild cognitive deterioration. Very few familial cases of MLC have been reported in the world literature, and to the best of our knowledge, there is no published study of all three siblings affected with MLC in a same family. Here, we are reporting three siblings belonging to a non-Aggarwal Hindu family, affected with MLC, who presented with early-onset macrocephaly and gradual onset ataxia.
ISSN:0972-2327
1998-3549