title: X-linked hydrocephalus masquerading as spina bifida and destructive porencephaly in successive generations in one family.
abstract: The authors report a case of X-linked hydrocephalus which presented as a destructive porencephaly. There was asymmetric dilatation of the ventricles of prenatal onset, and neuro-imagining 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 stillborn, 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 was confirmed in this family by identification of mutation within the L1CAM gene.
authors.affiliation: Department of Clinical Genetics, Western General Hospital, Edinburgh, UK.
authors.forename: C M
authors.initials: CM
authors.lastname: Brewer
authors.forename: B J
authors.initials: BJ
authors.lastname: Fredericks
authors.forename: J M
authors.initials: JM
authors.lastname: Pont
authors.forename: J B
authors.initials: JB
authors.lastname: Stephenson
authors.forename: J L
authors.initials: JL
authors.lastname: Tolmie
mesh_terms: D003937:Diagnosis, Differential; D005500:Follow-Up Studies; D008040:Genetic Linkage; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis* / Q000235:genetics*; D007223:Infant; D008297:Male; D016135:Spinal Dysraphism / Q000175:diagnosis*; D014960:X Chromosome