Familial congenital hydrocephalus and aqueduct stenosis with probably autosomal dominant inheritance and variable expression.

A kindred is reported on with suspected autosomal dominant congenital hydrocephalus and aqueduct stenosis. In contrast to patients with X-linked congenital hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) our patients were not mentally retarded and they did not show any pyramidal tract dysfunction or clasped thumbs; the pyramids were not affected either, as was confirmed by autopsy, CT or MRI. Molecular genetic studies in our patients have not revealed abnormalities of eight exons of the L1 neural adhesion molecule gene that is related to HSAS.