megalencephalic leukoencephalopathy with subcortical cysts
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.
MONDO:0000137
leukoencephalopathy, megalencephalic
is_a
MONDO:0019046
leukodystrophy
is_a
MLC
exact
MLC1
related
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
exact
Van der Knaap syndrome
exact
megalencephalic leukodystrophy
exact
megalencephalic leukoencephalopathy with subcortical cysts 1
related
megalencephalic leukoencephalopathy with subcortical cysts type 1
exact
megalencephaly-cystic leukodystrophy
related
megalencephaly-cystic leukodystrophy syndrome
exact