X-LINKED HYDROCEPHALUS MASQUERADING AS SPINA-BIFIDA AND DESTRUCTIVE PORENCEPHALY IN SUCCESSIVE GENERATIONS IN ONE FAMILY

The authors report a case of X-linked hydrocephalus which presented as a destructive porencephaly. There was asymmetric dilatation of the ve ntricles of prenatal onset, and neuroimagining studies were suggestive of infection or haemorrhage. The child was profoundly handicapped but did not have adducted thumbs. Two of his mother's brothers had been s tillborn, and postmortem reports revealed that the diagnosis had been isolated hydrocephalus and not spina bifida as reported by the family. Despite serial ultrasound scans, recurrence of X-linked hydrocephalus in the mother's subsequent pregnancy was not detected until 26 weeks gestation, when the ventricles became grossly dilated. The diagnosis w as confirmed in this family by identification of a mutation within the LICAM gene.