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Severe prenatal infantile cortical hyperostosis (Caffey's disease)
P D Turnpenny1, R Davidson, E J Stockdale
1Department of Paediatrics, Nazareth Hospital, Israel.
Insights
Prenatal infantile cortical hyperostosis (Caffey's disease) cases linked to maternal polyhydramnios show a high mortality rate. This study details familial cases, including lethal prenatal forms, highlighting a non-sporadic pattern.
Area of Science:
- Medical Genetics
- Pediatric Radiology
- Obstetrics
Background:
- Infantile cortical hyperostosis, also known as Caffey's disease, is a rare disorder.
- Prenatal diagnosis of Caffey's disease is challenging, with limited documented cases.
Observation:
- Three cases of prenatal Caffey's disease from two families were identified.
- All cases were associated with maternal polyhydramnios.
- Two cases resulted in intrauterine or early neonatal death, while one exhibited milder skeletal involvement.
Findings:
- The prenatal lethal form of Caffey's disease, previously considered sporadic, appears to have a familial, non-sporadic basis in these cases.
- Maternal polyhydramnios is a significant associated finding in prenatal Caffey's disease.
- Lethality is strongly correlated with the gestational age at delivery, with term delivery being crucial for survival.
Implications:
- This study expands the understanding of the genetic and clinical spectrum of prenatal Caffey's disease.
- Early recognition of polyhydramnios in conjunction with suspected Caffey's disease may aid in prenatal diagnosis and management.
- Further research into the genetic underpinnings of familial Caffey's disease is warranted to improve diagnostic and therapeutic strategies.
Abstract:
We describe three cases of prenatal infantile cortical hyperostosis (Caffey's disease) from two families, all associated with maternal polyhydramnios. Case 1 (family 1) was an early early neonatal death after delivery at 27 weeks gestation, case 2 (family 2) an intrauterine death at 33 weeks. Case 3 (family 2) had limited skeletal involvement and followed a course typical for Caffey's disease. Only six cases of prenatal Caffey's disease with extensive skeletal involvement have previously been described. Polyhydramnios was reported in all but one and the condition was lethal unless pregnancy reached term. To our knowledge cases 2 and 3 reported here represent the first description of Caffey's disease in which the prenatal lethal form was not sporadic.