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megalencephalic leukoencephalopathy with subcortical cysts (MLC) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

megalencephalic leukoencephalopathy with subcortical cysts

MONDO:0011391

Also known as:MLCVacuolating megalencephalic leukoencephalopathy with subcortical cystsVan der Knaap syndrome

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Overview

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.

OnsetINFANTILE

Clinical Trials1 registered · 1 recruiting

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

22 publications have been identified in PubMed for megalencephalic leukoencephalopathy with subcortical cysts. Research spans Basic Science / Preclinical (45%), Case Report / Case Series (32%), and Epidemiology / Natural History (9%).

Research Type	Count	% of Total
Laboratory research	10

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:33 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2478

GARD

Genetic and Rare Diseases Info Center

GARD:3445

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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megalencephalic leukoencephalopathy with subcortical cysts

Overview

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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