Megalencephalic leukoencephalopathy with subcortical cysts (MLC1, HEPACAM, GPRC5B)
Causes an enlarged head from infancy with slowly progressive problems with balance, spasticity and sometimes seizures; some HEPACAM forms improve over time (remitting MLC).
What a diagnosis changes
Diagnosis explains the brain imaging findings, guides seizure and supportive care and clarifies risk for relatives.
Also known as
megalencephalic leukodystrophy; megalencephalic leukoencephalopathy with subcortical cysts 1; megalencephalic leukoencephalopathy with subcortical cysts type 1; megalencephaly-cystic leukodystrophy; megalencephaly-cystic leukodystrophy syndrome; MLC; MLC1; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome
Includes 3 related subtypes ↓Hide subtypes ↑
- megalencephalic leukoencephalopathy with subcortical cysts 1
- megalencephalic leukoencephalopathy with subcortical cysts 2A
- megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
