Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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June 16, 2014
Megalencephalic Leukoencephalopathy with Subcortical Cysts
- Megalencephalic leukoencephalopathy with subcortical cysts (MLC), or Van der Knaap disease, is a rare disease first described by Van der Knaap et al in 1995.
- MLC is inherited in an autosomal recessive manner due to mutations in MLC1 gene on chr22qtel. It is characterized by infantile onset macrocephaly, cerebral leucoencephalopathy, mild neurological symptoms, and an extremely slow course of functional deterioration.
- Key Imaging Features: Bilateral, extensive supratentorial white matter involvement with temporal subcortical cysts; relative sparing of corpus callosum and internal capsule
- DDx: Alexander disease, cystic leukoencephalopathy without megalencephaly, vanishing white matter disease, Canavan's disease, and glutaric aciduria type 1. These conditions have relentlessly progressive infantile onset leukoencephalopathy, frequently fatal within first decade of life. However, MLC has remarkably slow course of deterioration in neurologic function.
- Rx: Supportive therapy, physical therapy, and special education
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