Annals of Indian Academy of Neurology
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CASE REPORT
Year : 2012  |  Volume : 15  |  Issue : 3  |  Page : 214-217

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


Department of Pediatrics, Narayan Medical College and Hospital, Jamuhar, Sasaram, Bihar, India

Correspondence Address:
Mani Kant Kumar
Department of Pediatrics, Narayan Medical College and Hospital, Jamuhar, Sasaram, Dist. Rohtas, Bihar 821 305
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.99723

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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.


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