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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September 17, 2012
Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC)
- MLC is a rare leukoencephalopathy, inherited in an autosomal recessive manner. The gene locus identified with MLC is on chromosome 22qtel, and the gene identified is called MLC1.2,3.
- It typically affects the pediatric patient population. Patients present with macrocephaly, seizures, delayed onset of slow motor deterioration, and even slower cognitive decline.
- Key Diagnostic Features: Diffusely swollen white matter, extending up to and including the subcortical white matter, is often seen. Non-enhancing subcortical cysts without any diffusion restriction are typically seen in the anterior temporal and/or frontoparietal subcortical white matter. Involvement of the posterior 1/3rd aspect of posterior limbs of internal capsule, and of white matter tracts in the brainstem, are also described.
- DDx: Canavan's disease, metachromatic leukodystrophy
- Rx: Symptomatic — treatment of seizures and spasticity
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