Megalencephalic leukoencephalopathy with subcortical cysts: A report of two caseswith a brief review of literature
Journal Title: Scholars Journal of Medical Case Reports - Year 2016, Vol 4, Issue 6
Abstract
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) , also known as van der Knaap disease is a rare neurodegenerative disorder first described by van der Knaap et al. in 1995. It is characterized by early-onset macrocephaly with mild motor developmental delay, gradual onset ataxia, spasticity, seizures and usually late onset mild cognitive deterioration. Majority of cases have been reported from the Aggarwal community in India. We report two cases of this disease, both are from non- Aggarwal family with a brief review of literature. We diagnosed this disease at an earlier age by clinical features and characteristic MRI findings. Keywords:megalencephalic leukoencephalopathy, Macrocephaly, subcortical cysts, van der Knaap disease, MLC1 gene.
Authors and Affiliations
Pradosh Kumar Sarangi, Pratisruti Hui, Sasmita Parida, Basanta Manjari Swain, Jayashree Mohanty
Keywords
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