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Published on: March 28, 2025
[X-linked hydrocephaly. A case report in fetal medicine]
K Syrios1, K Delbecoue, S Gaillez
1Service de Gynécologie-Obstétrique, Clinique Saint Vincent, Rocourt.
Revue Medicale De Liege
|May 13, 2011
Summary
X-linked hydrocephaly, also known as Li Syndrome, is the most common genetic cause of congenital hydrocephaly. This condition involves hydrocephaly, intellectual disability, and motor impairments, often linked to LICAM gene mutations.
Area of Science:
- Genetics
- Neurology
- Developmental Biology
Background:
- X-linked hydrocephaly (Li Syndrome) is a rare but significant genetic cause of congenital hydrocephaly.
- It represents the most common inherited form of this condition, impacting multiple developmental pathways.
Observation:
- The syndrome presents with a variable phenotype including hydrocephaly, intellectual disability, leg spasticity, and adducted thumbs.
- Antenatal diagnosis and management are crucial for affected pregnancies.
Findings:
- Mutations in the LICAM gene are identified as the primary etiology of Li Syndrome.
- The study highlights a specific antenatal case managed within the department, underscoring diagnostic and clinical considerations.
Implications:
- Understanding the genetic basis (LICAM mutations) aids in accurate diagnosis and genetic counseling.
- Early identification and management of X-linked hydrocephaly can inform clinical care and research into neurodevelopmental disorders.
