Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius

Clinical Features

In 2 sibships of a highly consanguineous Mexican kindred, Barros-Nunes and Rivas (1993) identified 3 males with hydrocephalus and 3 males with microcephaly. The 20-month-old proband was diagnosed by computed tomography with hydrocephalus due to aqueductal stenosis. He had acrocephaly, cranial hypertensive symptoms, and generalized convulsive seizures resistant to treatment. He was not able to crawl, stand up unsupported, or control his head. Physical examination showed hyporeactivity, photomotor hyporeflexia, generalized muscular hypertonia and hyperreflexia, positive Babinski sign, convergent strabismus, hypertelorism, highly arched palate, retrognathia, short neck, normal thorax, prominent abdomen without visceromegaly, bilateral cryptorchidism, small penis, and small hands with adducted thumbs. The authors suggested that a different recessive gene might be responsible for the microcephaly.

Haverkamp et al. (1999) studied a series of 35 patients with congenital internal hydrocephalus and aqueductal stenosis. The patients included a brother and sister with a normal phenotype except for the aqueductal stenosis. The parents were consanguineous.

Hamada et al. (1999) described a Japanese brother and sister who presented in fetal life with isolated hydrocephalus due to aqueductal stenosis.

Inheritance

Barros-Nunes and Rivas (1993) suggested that hydrocephalus due to congenital stenosis of the aqueduct of Sylvius in the Mexican kindred they reported was inherited in an autosomal recessive manner. They cited the family reported by Petrus et al. (1981) and the family reported by Vanlieferinghen et al. (1987) as other examples of autosomal recessive inheritance of aqueductal stenosis.

Haverkamp et al. (1999) and Hamada et al. (1999) suggested autosomal recessive inheritance of hydrocephalus due to aqueductal stenosis in the families they reported.