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Megalencephalic leukoencephalopathy with subcortical cysts
Disease definition
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
Classification level: Disorder- 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: -
A summary on this disease is available in Deutsch (2004) Español (2014) Français (2014) Nederlands (2014) Italiano (2014) Polski (2014, pdf)
Detailed information
Guidelines
- Clinical practice guidelines
- Deutsch (2022) - AWMF
Disease review articles
- Review article
- English (2011) - Expert Rev Neurother
- Clinical genetics review
- English (2018) - GeneReviews


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.