Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Definition
Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts.
Also known as MEB disease with bilateral multicystic leucodystrophy — per MONDO