Megalencephalic leukoencephalopathy with subcortical cysts


Type of disease: Rare conditions

Megalencephalic leukoencephalopathy with subcortical cysts is a condition that affects brain development and function. Children with this condition have an enlarged brain (megalencephaly) that is evident at birth or within the first year of life. They also have an abnormality of the brain’s white matter (leukoencephalopathy). The leukoencephalopathy may ultimately result in abnormal muscle tensing (spasticity), difficulty coordinating movements (ataxia), cysts in the brain (subcortical cysts), abnormal muscle tone (dystonia), swallowing difficulties, speech difficulties, and seizures. Despite the brain abnormalities people with this condition tend to have only mild to moderate learning impairment. This condition may affect a childÕs ability to walk, however some children are able to walk well into adulthood. It is important to protect people with MLC from even mild head trauma, because head trauma can cause further impairments and may lead to coma. This condition is genetic and is passed through families in an autosomal recessive pattern. It is most often caused by changes in the MLC1 gene. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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