Aqueductal stenosis in X-linked hydrocephalus: a secondary phenomenon?
Two cases of x-linked hydrocephalus are reported. One underwent postmortem examination: serial sections of the brain stem failed to show stenosis of the aqueduct, the mean and minimal cross-sectional areas of which were normal. However, there were some morphological changes which were compatible with a mechanical compression of the brain stem. It is postulated that in the Bickers and Adams syndrome of x-linked hereditary hydrocephalus the primary defect is a communicating hydrocephalus leading usually, but not always, to aqueductal stenosis. The importance of electrophysiological investigations for the correct diagnosis of the characteristic clasped-thumb deformity is also indicated.
D002535:Cerebral Aqueduct / Q000473:pathology*; D003251:Constriction, Pathologic; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics* / Q000473:pathology; D008297:Male; D010375:Pedigree; D012729:Sex Chromosome Aberrations; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*; D014960:X Chromosome