Cargando…

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

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 dis...

Descripción completa

Detalles Bibliográficos
Autores principales: Randhawa, Harneet S, Randhawa, Jasneet, Kulkarni, Anagha, More, Akshay, Jain, Akshay
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8351400/
https://www.ncbi.nlm.nih.gov/pubmed/34381660
http://dx.doi.org/10.7759/cureus.16941
_version_ 1783735967247499264
author Randhawa, Harneet S
Randhawa, Jasneet
Kulkarni, Anagha
More, Akshay
Jain, Akshay
author_facet Randhawa, Harneet S
Randhawa, Jasneet
Kulkarni, Anagha
More, Akshay
Jain, Akshay
author_sort Randhawa, Harneet S
collection PubMed
description 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.
format Online
Article
Text
id pubmed-8351400
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher Cureus
record_format MEDLINE/PubMed
spelling pubmed-83514002021-08-10 A Very Rare Case of Megalencephalic Leukoencephalopathy With Subcortical Cysts in a Child Born of Non-Consanguineous Marriage in a Non-Predisposed Community Randhawa, Harneet S Randhawa, Jasneet Kulkarni, Anagha More, Akshay Jain, Akshay Cureus Neurology 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. Cureus 2021-08-06 /pmc/articles/PMC8351400/ /pubmed/34381660 http://dx.doi.org/10.7759/cureus.16941 Text en Copyright © 2021, Randhawa et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Neurology
Randhawa, Harneet S
Randhawa, Jasneet
Kulkarni, Anagha
More, Akshay
Jain, Akshay
A Very Rare Case of Megalencephalic Leukoencephalopathy With Subcortical Cysts in a Child Born of Non-Consanguineous Marriage in a Non-Predisposed Community
title A Very Rare Case of Megalencephalic Leukoencephalopathy With Subcortical Cysts in a Child Born of Non-Consanguineous Marriage in a Non-Predisposed Community
title_full A Very Rare Case of Megalencephalic Leukoencephalopathy With Subcortical Cysts in a Child Born of Non-Consanguineous Marriage in a Non-Predisposed Community
title_fullStr A Very Rare Case of Megalencephalic Leukoencephalopathy With Subcortical Cysts in a Child Born of Non-Consanguineous Marriage in a Non-Predisposed Community
title_full_unstemmed A Very Rare Case of Megalencephalic Leukoencephalopathy With Subcortical Cysts in a Child Born of Non-Consanguineous Marriage in a Non-Predisposed Community
title_short A Very Rare Case of Megalencephalic Leukoencephalopathy With Subcortical Cysts in a Child Born of Non-Consanguineous Marriage in a Non-Predisposed Community
title_sort very rare case of megalencephalic leukoencephalopathy with subcortical cysts in a child born of non-consanguineous marriage in a non-predisposed community
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8351400/
https://www.ncbi.nlm.nih.gov/pubmed/34381660
http://dx.doi.org/10.7759/cureus.16941
work_keys_str_mv AT randhawaharneets averyrarecaseofmegalencephalicleukoencephalopathywithsubcorticalcystsinachildbornofnonconsanguineousmarriageinanonpredisposedcommunity
AT randhawajasneet averyrarecaseofmegalencephalicleukoencephalopathywithsubcorticalcystsinachildbornofnonconsanguineousmarriageinanonpredisposedcommunity
AT kulkarnianagha averyrarecaseofmegalencephalicleukoencephalopathywithsubcorticalcystsinachildbornofnonconsanguineousmarriageinanonpredisposedcommunity
AT moreakshay averyrarecaseofmegalencephalicleukoencephalopathywithsubcorticalcystsinachildbornofnonconsanguineousmarriageinanonpredisposedcommunity
AT jainakshay averyrarecaseofmegalencephalicleukoencephalopathywithsubcorticalcystsinachildbornofnonconsanguineousmarriageinanonpredisposedcommunity
AT randhawaharneets veryrarecaseofmegalencephalicleukoencephalopathywithsubcorticalcystsinachildbornofnonconsanguineousmarriageinanonpredisposedcommunity
AT randhawajasneet veryrarecaseofmegalencephalicleukoencephalopathywithsubcorticalcystsinachildbornofnonconsanguineousmarriageinanonpredisposedcommunity
AT kulkarnianagha veryrarecaseofmegalencephalicleukoencephalopathywithsubcorticalcystsinachildbornofnonconsanguineousmarriageinanonpredisposedcommunity
AT moreakshay veryrarecaseofmegalencephalicleukoencephalopathywithsubcorticalcystsinachildbornofnonconsanguineousmarriageinanonpredisposedcommunity
AT jainakshay veryrarecaseofmegalencephalicleukoencephalopathywithsubcorticalcystsinachildbornofnonconsanguineousmarriageinanonpredisposedcommunity