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Megalencephalic leukoencephalopathy with subcortical cysts

ORPHA2478
Synonym(s) MLC
Megalencephalic leukodystrophy
Megalencephaly - cystic leukodystrophy
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
UMLS
  • C1858854
MeSH -
MedDRA -

Summary

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic symptoms at presentation (such as mild motor delay), which worsen over years to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging (MRI) reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.


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Detailed information

Review article
  • EN (2011)
Clinical practice guidelines
  • DE (2012)
Clinical genetics review
  • EN (2012)
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