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Megalencephalic leukoencephalopathy with subcortical cysts

Disease definition

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.

ORPHA:2478

  • Synonym(s):
    • MLC
    • Megalencephalic leukodystrophy
    • Megalencephaly-cystic leukodystrophy syndrome
    • Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
    • Van der Knaap syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E75.2
  • OMIM: 604004  613925  613926
  • UMLS: C1858854
  • MeSH: -
  • GARD: 3445
  • MedDRA: -

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