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...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2012-01-01
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| 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 |
| _version_ | 1819175755153670144 |
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| author | Mani Kant Kumar Brish Bhanu Singh |
| author_facet | Mani Kant Kumar Brish Bhanu Singh |
| author_sort | Mani Kant Kumar |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-22T20:59:54Z |
| format | Article |
| id | doaj.art-3a08091f0bfe4708a5bd3013b3ea794b |
| institution | Directory Open Access Journal |
| issn | 0972-2327 1998-3549 |
| language | English |
| last_indexed | 2024-12-22T20:59:54Z |
| publishDate | 2012-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Annals of Indian Academy of Neurology |
| spelling | doaj.art-3a08091f0bfe4708a5bd3013b3ea794b2022-12-21T18:12:52ZengWolters Kluwer Medknow PublicationsAnnals of Indian Academy of Neurology0972-23271998-35492012-01-0115321421710.4103/0972-2327.99723Megalencephalic leukoencephalopathy with subcortical cysts in all three siblings of a non-Aggarwal Indian familyMani Kant KumarBrish Bhanu SinghMegalencephalic 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.http://www.annalsofian.org/article.asp?issn=0972-2327;year=2012;volume=15;issue=3;spage=214;epage=217;aulast=KumarMacrocephalymegalencephalic leukoencephalopathysubcortical cystswhite matter degeneration |
| spellingShingle | Mani Kant Kumar Brish Bhanu Singh Megalencephalic leukoencephalopathy with subcortical cysts in all three siblings of a non-Aggarwal Indian family Annals of Indian Academy of Neurology Macrocephaly megalencephalic leukoencephalopathy subcortical cysts white matter degeneration |
| title | Megalencephalic leukoencephalopathy with subcortical cysts in all three siblings of a non-Aggarwal Indian family |
| title_full | Megalencephalic leukoencephalopathy with subcortical cysts in all three siblings of a non-Aggarwal Indian family |
| title_fullStr | Megalencephalic leukoencephalopathy with subcortical cysts in all three siblings of a non-Aggarwal Indian family |
| title_full_unstemmed | Megalencephalic leukoencephalopathy with subcortical cysts in all three siblings of a non-Aggarwal Indian family |
| title_short | Megalencephalic leukoencephalopathy with subcortical cysts in all three siblings of a non-Aggarwal Indian family |
| title_sort | megalencephalic leukoencephalopathy with subcortical cysts in all three siblings of a non aggarwal indian family |
| topic | Macrocephaly megalencephalic leukoencephalopathy subcortical cysts white matter degeneration |
| url | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2012;volume=15;issue=3;spage=214;epage=217;aulast=Kumar |
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