A Very Rare Case of Megalencephalic Leukoencephalopathy With Subcortical Cysts in a Child Born of Non-Consanguineous Marriage in a Non-Predisposed Community.

Content Provider	Europe PMC
Author	Randhawa, Harneet S Randhawa, Jasneet Kulkarni, Anagha More, Akshay Jain, Akshay
Editor	Muacevic, Alexander Adler, John R
Copyright Year	2021
Abstract	Megalencephalic leukoencephalopathy (MLC) with subcortical cysts is a very rare white matter disorder characterized predominantly by motor developmental delay and seizures in a child with macrocephaly. Extrapyramidal symptoms, ataxia and mental retardation may also occur. Only a few cases of the disease have been reported worldwide with most of them showing an autosomal recessive pattern of inheritance. In India, most cases have been reported in Agrawal community. Here, we present an interesting case of MLC in a child born in non-Agrawal community to a non-consanguineous marriage. By reporting this case we intend to increase the research horizon and increase the published literature for atypical cases of MLC.
Journal	Cureus
Volume Number	13
DOI	10.7759/cureus.16941
PubMed Central reference number	PMC8351400
Issue Number	8
PubMed reference number	34381660
e-ISSN	21688184
Language	English
Publisher	Cureus
Publisher Date	2021-08-06
Publisher Place	Palo Alto (CA)
Access Restriction	Open
Subject Keyword	mlc von der knaap megalencephalic leukoencephalopathy subcortical cysts rare autosomal recessive disorder consanguinity ataxia seizure temporal cysts white matter changes on mri
Content Type	Text
Resource Type	Case study
Subject	Medicine