megalencephalic leukoencephalopathy with subcortical cysts 1

A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozyg

A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the MLC1 gene on chromosome 22q13.

Signs and symptoms

• Megalencephaly
• Seizure
• Macrocephaly
• Mild intellectual disability
• Diffuse swelling of cerebral white matter
• Ataxia
• Motor delay
• Spasticity
• Diffuse spongiform leukoencephalopathy

Also known as: Van Der Knaap disease; leukoencephalopathy with swelling and cysts