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X-linked hydrocephalus masquerading as spina bifida and destructive porencephaly in successive generations in one
C M Brewer1, B J Fredericks, J M Pont
1Department of Clinical Genetics, Western General Hospital, Edinburgh, UK.
Insights
X-linked hydrocephalus can present as destructive porencephaly, a severe condition affecting brain development. Genetic testing identified a LICAM gene mutation, confirming the diagnosis in this family.
Area of Science:
- Medical Genetics
- Neurology
- Developmental Biology
Background:
- X-linked hydrocephalus is a rare congenital disorder.
- It can manifest with severe neurological deficits and structural brain abnormalities.
- Accurate diagnosis is crucial for genetic counseling and understanding disease mechanisms.
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 a mutation within the LICAM gene.