X-linked hydrocephalus.
We report on a family with X-linked hydrocephalus: progressive increase in head circumference (OFC) led to the diagnosis in 3 patients; however, in 5 with normal OFC, the initial diagnosis had been "nonspecific" mental retardation, until identification of relatedness between 3 macrocephalic boys suggested segregation of a major Mendelian gene. Moderate to severe hydrocephaly was present in all macrocephalic patients and in 3 of the 5 with normal OFC, but CT-scan of the brain did not show aqueductal stenosis in any of them. We stress the importance of a brain CT-scan in every male with "nonspecific" mental retardation, especially in cases with X-linked inheritance, because confirmation of X-linkage has important genetic counseling consequences.
Department of Pediatrics, University Hospital, Groningen, The Netherlands.
P J
PJ
Willems
O F
OF
Brouwer
I
I
Dijkstra
J
J
Wilmink
D000293:Adolescent; D000328:Adult; D000368:Aged; D008040:Genetic Linkage; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging / Q000235:genetics*; D007223:Infant; D008607:Intellectual Disability / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D010375:Pedigree; D014057:Tomography, X-Ray Computed; D014960:X Chromosome