Six Cases of Megalencephalic Leukoencephalopathy with Subcortical Cysts in a family
Author(s) -
Shamrendra Narayan,
Dipti Agarwal,
Vandna Verma,
Nirmal Prajapati
Publication year - 2014
Publication title -
journal of pediatric sciences
Language(s) - English
Resource type - Journals
ISSN - 1309-1247
DOI - 10.17334/jps.02063
Subject(s) - leukoencephalopathy , psychology , medicine , pathology , disease
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.
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