Megalencephalic Cystic Leukoencephalopathy
DOI:
https://doi.org/10.15844/pedneurbriefs-17-7-9Keywords:
Megalencephalic Leukoencephalopathy, Homozygous Missense Mutation, Alexander DiseasesAbstract
A 41 year-old Japanese male diagnosed with megalencephalic leukoencephalopathy (MLC) with subcortical cysts (van der Knaap disease), presenting at 1 year of age with macrocephaly, slowly progressing after 5 years, seizures beginning at 11 years, completely bed ridden at 18 years, and with long survival, is reported from Tokyo Metropolitan Higashiyamato Medical Center for the Severely Disabled, Japan.Published
2003-07-01
Issue
Section
Degenerative Diseases
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Copyright (c) 2003 The Author(s)
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