Megalencephalic leukoencephalopathy with subcortical cysts

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Synonyms: MLC | Megalencephalic leukodystrophy | Megalencephaly-cystic leukodystrophy syndrome | Vacuolating megalencephalic leukoencephalopathy with subcortical cysts | Van der Knaap syndrome

A form of leukodystrophy that is characterized by infantile-onset macrocephaly often with mild neurologic signs at presentation (such as mild motor delay) which worsen with time leading to poor ambulation falls ataxia spasticity increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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