Neonatal X-linked hydrocephalus. Findings in two affected brothers

Two brothers with X-linked recessive stenosis of the aqueduct of Sylvius and neonatal isolated hydrocephalus are presented. They not only confirm the presence of genetic heterogeneity, but also display the occurrence of certain clinical and pathological characteristics in this disease. The medially in-turned thumbs, hypoplasia of the cortico-spinal tracts, hypoplasia of the basal ganglia, obliteration of the aqueduct, and, in one case, the associated papilloma of the choroid plexus were evident. All male infants with congenital isolated hydrocephalus should be thoroughly investigated for the possible occurrence of an X-linked recessive stenosis of the aqueduct.