1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-17-55-a 10.15844/pedneurbriefs-17-7-9 Degenerative Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Megalencephalic Cystic Leukoencephalopathy http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 07 2003 01 03 2016 17 7 55 55 Copyright: © 2003 The Author(s) 2003 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study

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.

 Megalencephalic Leukoencephalopathy Homozygous Missense Mutation Alexander Diseases

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. His motor function had severely deteriorated and his cognitive function was at a 2 year level. MRI revealed marked cerebral atrophy, ventricular enlargement, and large cysts in frontoparietal and anterior temporal areas. A homozygous missense mutation was detected in the MLC1 gene. [1]

COMMENT. Van der Knaap and colleagues described an infantile onset leukoencephalopathy with swelling and a discrepantly mild clinical course in 8 children in 1995. Mutations of MLC1 gene were identified as a cause of the leukoencephalopathy with subcortical cysts in 2001 (Leegwater et al). The changes in size of basal ganglia and diffuse white matter abnormalities that characterize Canavan and Alexander diseases are not evident in MLC.

Saijo H Nakayama H Ezoe T Araki K Sone S Hamaguchi H A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study Brain Dev 2003 Aug 25 5 362 366 10.1016/S0387-7604(03)00006-8 12850517