Delayed infantile cortical hyperostosis (Caffey's disease): case report

Area of Science:

• Pediatric Radiology
• Medical Genetics
• Rare Diseases

Background:

• Caffey's disease, a rare infantile disorder, typically presents with characteristic bone abnormalities.
• Late recurrence or delayed forms are exceptionally uncommon, with unknown etiology.
• Early diagnosis and intervention are crucial for managing bone and developmental complications.

Observation:

• A 3.5-year-old boy exhibited symptoms suggestive of a delayed presentation of Caffey's disease.
• The patient presented with unilateral involvement affecting the maxilla and zygoma.
• Clinical and radiological evaluations were performed to assess the extent of bone abnormalities.

Findings:

• The case highlights a rare instance of late-onset Caffey's disease.
• Unilateral maxilla and zygoma involvement were the primary radiological findings.
• The etiology of this delayed presentation remains unknown, necessitating further research.

Implications:

• This case expands the known clinical spectrum of Caffey's disease.
• It underscores the importance of considering rare diagnoses in atypical presentations.
• Further investigation into the pathogenesis of late-onset Caffey's disease is warranted.