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Caffey disease in an infant.
Anupama Tandon1, Fozia Raza2, Rajesh Tandon3
1Radiodiagnosis, University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi, India.
BMJ Case Reports
|November 20, 2024
Summary
Caffey disease, a rare condition, presented as irritability and swelling in an infant. Early diagnosis is crucial for managing infantile cortical hyperostosis.
Area of Science:
- Pediatrics
- Medical Imaging
- Genetics
Background:
- Infantile cortical hyperostosis, also known as Caffey disease, is a rare disorder characterized by bone inflammation and swelling.
- It typically affects infants and young children, presenting with characteristic bone lesions and soft tissue swelling.
Observation:
- A previously healthy infant presented with irritability, left shoulder swelling, and restricted arm movement over 5 months.
- Physical examination revealed a large, firm, tender mass in the left scapular region with overlying normal skin.
- Imaging demonstrated left scapular hyperostosis and surrounding soft tissue swelling.
Findings:
- Differential diagnosis excluded osteomyelitis, sarcomas, trauma, and hypervitaminosis A.
- The clinical and imaging findings were consistent with Caffey disease (infantile cortical hyperostosis).
Implications:
- Caffey disease, though rare, must be considered in the differential diagnosis of bony swelling in infants.
- Prompt recognition and diagnosis are essential for appropriate management and to rule out more serious conditions.
