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The family history of "simple" congenital hydrocephalus. An epidemiological study based on 270 probands
Insights
Congenital hydrocephalus and neural tube defects share similar causes in many infants. Parents of affected children should undergo antenatal screening and consider prophylactic treatments for future pregnancies.
Area of Science:
- Pediatric Neurology
- Medical Genetics
Background:
- Congenital hydrocephalus is a condition characterized by excessive cerebrospinal fluid in the brain.
- Neural tube defects are birth defects affecting the brain and spine.
Purpose of the Study:
- To investigate the familial occurrence of congenital hydrocephalus and neural tube defects.
- To explore the potential shared etiology between these conditions.
Main Methods:
- Longitudinal family study of 270 infants with congenital hydrocephalus.
- Analysis of sibling data for congenital hydrocephalus and neural tube defects.
- Literature review for comparative etiological insights.
Main Results:
- Sibling recurrence risk for congenital hydrocephalus was 11.1 per 1,000.
- Sibling recurrence risk for neural tube defects was 19.9 per 1,000.
- Data suggest a common underlying etiology for both conditions in many families.
Conclusions:
- The findings suggest a shared genetic or environmental etiology for congenital hydrocephalus and neural tube defects.
- Antenatal screening for both conditions is recommended for parents of affected children.
- Prophylactic treatments similar to those for spina bifida and anencephaly may be beneficial.
Abstract:
A longitudinal study was carried out on the family history of 270 babies with uncomplicated congenital hydrocephalus. They had 453 siblings of whom 5 (11.1 per 1,000) had congenital hydrocephalus and 9 (19.9 per 1,000) had neural tube defects. These data, together with those obtained from the literature, indicate that the aetiology of the two conditions is probably the same in many cases, although there are unusual exceptions in special families, even apart from families with the sex-linked recessively inherited hydrocephalus. These findings suggest that the parents of children with uncomplicated hydrocephalus should have adequate antenatal tests for the detection of neural tube defects as well as for hydrocephalus and may need similar prophylactic treatment as do the parents of children with spina bifida and anencephaly.