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).
Co se diagnózou změní
Diagnosis explains the brain imaging findings, guides seizure and supportive care and clarifies risk for relatives.
Známé také jako
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
Zahrnuje 3 příbuzných podtypů ↓Skrýt podtypy ↑
- megalencephalic leukoencephalopathy with subcortical cysts 1
- megalencephalic leukoencephalopathy with subcortical cysts 2A
- megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
