Megalencephalic Cystic Leukoencephalopathy

Abstract

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.

Keywords

• megalencephalic leukoencephalopathy
• homozygous missense mutation
• alexander diseases