MeSH Browser

MeSH Supplementary: Megalencephalic leukoencephalopathy with subcortical cysts
Unique ID: C536141
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536141
Entry Term(s): Infantile Leukoencephalopathy and Megalencephaly; Leukoencephalopathy with Swelling and A Discrepantly Mild Course; Leukoencephalopathy with swelling and cysts; Megalencephaly-cystic leukodystrophy; Vacuolating Leukoencephalopathy; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts; Van Der Knapp Disease
Registry Numbers: 0
Heading Mapped to: *Cysts; *Hereditary Central Nervous System Demyelinating Diseases
Frequency: 80
Note: A heriditary autosomal recessive leukodystrophy characterized by early-onset MEGALENCEPHALY and delayed-onset neurologic deterioration, including CEREBELLAR ATAXIA; MUSCLE SPASTICITY; EPILEPSY, and mild DEMENTIA. Mutations in the MLC1 gene have been identified. OMIM: 604004
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Megalencephalic leukoencephalopathy with subcortical cysts MeSH Supplementary Concept Data 2025