megalencephalic leukoencephalopathy with subcortical cysts

Term ID

DOID:0080315

Synonyms

• megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome
• vacuolating megalencephalic leukoencephalopathy with subcortical cysts

Definition

A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. https://ghr.nlm.nih.gov/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts

References

• GARD:3445
• MESH:C536141
• OMIM:PS604004
• ORDO:2478
• SNOMEDCT_US_2023_03_01:703536004
• UMLS_CUI:C1858854

Ontology

Human Disease   ( DOID:0080315 )