Congenital hydrocephalus due to aqueductal stenosis of probable autosomal recessive inheritance

ABSTRACT

Hereditary stenosis of the aqueduct of Sylvius is known to be transmitted as an X-linked recessive trait, thus affecting only the male offspring. We describe a family of consanguineous marriage where 2 sons and 2 daughters were afflicted with congenital hydrocephalus associated with stenosis of aqueduct of Sylvius. The pattern of the disease in this family is consistent with autosomal recessive inheritance. The authors of this communication are not aware of any literature reporting a similar mode of inheritance regarding this condition. Perhaps this discordant genetic mode of inheritance could have been caused by the consanguinity between the parents