X‐linked hydrocephalus

Abstract

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.