leukoencephalopathy, megalencephalic megalencephalic leukoencephalopathy with subcortical cysts https://rarediseases.info.nih.gov/diseases/3445/megalencephalic-leukoencephalopathy-with-subcortical-cysts https://www.malacards.org/card/megalencephalic_leukoencephalopathy_with_subcortical_cysts megalencephaly-cystic leukodystrophy MLC1 DOID:0080315 MONDO:0011391 MLC UMLS:C1858854 megalencephalic leukoencephalopathy with subcortical cysts type 1 GARD:0003445 Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is 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. Orphanet:2478 NANDO:2200837 NANDO:1200950 megalencephalic leukoencephalopathy with subcortical cysts 1 Van der Knaap syndrome MESH:C536141 megalencephalic leukodystrophy megalencephaly-cystic leukodystrophy syndrome MEDGEN:347006 SCTID:703536004 leukodystrophy