Related Experiment Videos
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 brain malformation. Genetic testing confirmed L1CAM gene mutations in a family with recurrent cases, aiding diagnosis.
Area of Science:
- Neuroscience
- Medical Genetics
Background:
- X-linked hydrocephalus is a severe congenital brain malformation.
- It is often associated with L1 syndrome, caused by mutations in the L1CAM gene.
- Porencephaly, a cystic lesion within the cerebral hemispheres, can be a presenting feature.
Observation:
- A case of X-linked hydrocephalus presented as destructive porencephaly with asymmetric ventricular dilatation.
- Neuroimaging suggested infection or hemorrhage, complicating the initial diagnosis.
- Affected individuals may not exhibit all classic L1 syndrome features, such as adducted thumbs.
Findings:
- Recurrence of X-linked hydrocephalus in a family was observed, despite serial ultrasounds.
- A mutation in the L1CAM gene was identified, confirming the diagnosis.
- Family history revealed stillborn siblings with misdiagnosed hydrocephalus.
Implications:
- Accurate genetic diagnosis is crucial for understanding and managing X-linked hydrocephalus.
- Early identification of L1CAM gene mutations can improve genetic counseling and prenatal diagnosis.
- Recognizing atypical presentations is important for timely diagnosis of X-linked hydrocephalus.
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.