This neuropathological feature was highly suggestive of MPDZ variations [20] which have been associated with non-syndromic hydrocephalus due to Sylvius Aqueduct atresia, distinguishing them from cases with L1CAM variations, in which hydrocephalus was associated with Sylvius Aqueduct stenosis. The gene discussed is L1CAM; the disease is Aqueductal stenosis.