megalencephalic leukoencephalopathy with subcortical cysts
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Pathology
- cerebral leukoencephalopathy & megalencephaly
Genetics
- autosomal recessive
- associated with defects in MLC1 gene
Clinical manifestations
- macrocephaly
- deterioration of motor functions with ataxia
- spasticity
- mental decline
Laboratory
Radiology
- MRI: brain appears swollen, with diffuse white-matter abnormalities & invariably subcortical cysts in frontal lobe & temporal lobe