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Megalencephalic leukoencephalopathy with subcortical cysts MeSH Supplementary Concept Data 2024


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 Number
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 Preferred
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