[Infantile cortical hyperostosis (the Caffey-Silvermann syndrome)]
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K Ciharová1, J Horák, K Bláhová
1I. dĕtská klinika fakultní nemocnice, Praha-Motol.
Insights
Infantile cortical hyperostosis (Caffey-Silvermann syndrome) affected six infants, primarily before four months old. This study details clinical and pathological findings, including elevated inflammatory markers and bone involvement, highlighting diagnostic challenges.
Area of Science:
- Pediatrics
- Medical Genetics
- Radiology
Background:
- Infantile cortical hyperostosis, also known as Caffey-Silvermann syndrome, is a rare disorder characterized by bone overgrowth.
- Early diagnosis and understanding of its clinical presentation are crucial for appropriate management.
Observation:
- A retrospective review of six pediatric patients diagnosed with infantile cortical hyperostosis between 1984 and 1989.
- All affected infants developed symptoms before 4.5 months of age, with a notable male predominance (5 out of 6).
- The study documented non-familial occurrences of the condition.
Findings:
- Pathological findings included elevated erythrocyte sedimentation rate (ESR) in 5/6 patients, leukocytosis in 5/6, thrombocytosis in 3/4, eosinophilia in 3/6, and elevated alkaline phosphatase in 2/6.
- Skeletal involvement was most frequently observed in the mandible (four cases), with one case each of hip joint and multifocal involvement.
- One detailed case presented with significant clavicular involvement, initially misdiagnosed as a bone tumor.
Implications:
- The findings underscore the importance of considering infantile cortical hyperostosis in the differential diagnosis of bone abnormalities in infants.
- Understanding the spectrum of clinical and laboratory findings aids in accurate diagnosis and management of Caffey-Silvermann syndrome.
- This case series contributes to the literature on the presentation and diagnostic considerations of this rare pediatric condition.
Abstract:
In 1984-1989 at the First Paediatric Clinic of the Motol Faculty Hospital six patients with the diagnosis of infantile cortical hyperostosis (Caffey-Silvermann syndrome) were hospitalized. Non-familial concurrence of the disease was involved. All children developed the disease before the age of 4.5 months, four before the age of three months. Among the six patients was only one girl. As to pathological findings there was a markedly elevated FW in 5/6, leucocytosis in 5/6, thrombocytosis in 3/4, eosinophilia in 3/6, elevated alkaline phosphatases in 2/6. The affection was four times on the mandible, once in the area of the hip joints and in one instance it was multifocal. The authors present one detailed case-history with extreme affection of the clavicle which was originally taken for a bone tumour.