Autosomal recessive hydrocephalus due to congenital stenosis of the aqueduct of Sylvius

Abstract

Isolated hydrocephalus due to congenital stenosis of the aqueduct of Sylvius is almost always an X-linked recessive inherited condition. We describe a brother and sister with isolated hydrocephalus from congenital aqueductal stenosis. We believe that these two occurrences represent a rare autosomal recessive form of this abnormality. In assessing a first known occurrence of hydrocephalus with stenosis of the aqueduct of Sylvius in a family, the rare possibility of autosomal inheritance must be considered in genetic counselling.

Risk factors of congenital hydrocephalus: a 10 year retrospective study

“…Animal models have established autosomal dominant and recessive patterns26 of inheritance for CH, and case studies in humans have added support to the existence of these patterns 18 – 25. Our results indicate that autosomal patterns of inheritance for CH are not rarities, but should be considered in familial cases of hydrocephalus in which X linked inheritance is unlikely.…”

Characteristics of hydrocephalus expression in the LEW/Jms rat strain with inherited disease

“…It seems likely that unrecognized genetic factors are responsible. In addition, a number of autosomal recessive forms have been reported (e.g., [1,7,16,44,51]). A genetic component for congenital hydrocephalus is indicated by the results of epidemiological studies [6,31,41,46].…”

“…It is etiologically diverse and not well understood. Although a number of familial forms have been reported [1,7,16,44,51], the molecular genetics have not been investigated. Although a number of familial forms have been reported [1,7,16,44,51], the molecular genetics have not been investigated.…”

How should primary aqueductal stenosis in adults be treated? - A review

“…A specific etiology has been identified in a few patients with primary AS. Haverkampf et al (13) found 37% x-linked recessive inheritance in patients with congenital primary AS and there are recent reports on both autosomal recessive (14,15) and autosomal dominant (16) forms of inheritance. Infections known to cause AS are toxoplasmosis [responsible for 15% of the cases reported by Hirsch et al (9)], mumps (17), aspergillos (18), Epstein-Barr virus (19), and CMV (20).…”

“…Haverkampf et al (13) found 37% x-linked recessive inheritance in patients with congenital primary AS and there are recent reports on both autosomal recessive (14,15) and autosomal dominant (16) forms of inheritance. Haverkampf et al (13) found 37% x-linked recessive inheritance in patients with congenital primary AS and there are recent reports on both autosomal recessive (14,15) and autosomal dominant (16) forms of inheritance.…”