Megalencephalic leukoencephalopathy with subcortical cysts

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Megalencephalic leukoencephalopathy with subcortical cysts

Synonyms: MLC | Megalencephalic leukodystrophy | Megalencephaly-cystic leukodystrophy syndrome | Vacuolating megalencephalic leukoencephalopathy with subcortical cysts | Van der Knaap syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Advocacy Organizations

Aicardi-Goutieres Syndrome Advocacy Association

AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with Aicardi-Goutières Syndrome and those yet to be diagnosed. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life through accelerating research and providing timely emotional and educational support alongside evolving clinical care recommendations to affected families.

Clinical Trials

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