Six Cases of Megalencephalic Leukoencephalopathy with Subcortical Cysts in a family

Shamrendra Narayan, Dipti Agarwal, Vandna Verma, Nirmal C Prajapati
3.266 2.002

Abstract


Abstract

 We present a case series of 6 children of Megalencephalic leukoencephalopathy with subcortical cysts. It is a very rare leukodystrophy that is characterized by macrocephaly , a slowly progressive clinical course and fatal outcome. Clinical presentation and MRI scans are the mainstay of diagnosis. 6 of 7 children from the same parents were affected suggesting variation from autosomal recessive pattern.  

 

 

 


Keywords


megalencephalic leukoencephalopathy, subcortical cysts

Full Text:

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DOI: http://dx.doi.org/10.17334/jps.02063

References


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