Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations

Several diseases related to anomalies of basement membrane components are known.(1,2) Among these disorders, cerebral white matter involvement is well-documented with respect to mutations in COL4A1-2, coding for the 1 and 2 chains of collagen IV, as well as mutations in LAMA2, coding for laminin 2.(2) Recently, mutations in another laminin-encoding gene, LAMB1, have been reported in patients presenting a severe malformative encephalopathy.(3) We present 2 siblings from a nonconsanguineous family who extend the phenotype of the LAMB1-related disorder.