Autosomal recessive hydrocephalus with aqueductal stenosis.
We report the case histories of three sisters with congenital hydrocephalus associated with stenosis of the cerebral aqueduct. The parents were a young consanguineous couple. In two cases hydrocephalus was detected before birth by ultrasonography. We consider these three cases to be of the rare autosomal form of hereditary hydrocephalus.
Castro-Gago
M
M
Departamento de Pediatría, Hospital General de Galicia, Santiago de Compostela, Spain.
Alonso
A
A
Eirís-Puñal
J
J
D002535:Cerebral Aqueduct / Q000000981:diagnostic imaging*; D002675:Child, Preschool; D003251:Constriction, Pathologic; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging* / Q000235:genetics*; D010375:Pedigree; D011296:Prenatal Diagnosis; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography