Age / Sex : 51 / F

Chief complaint: Both leg deformity at birth

1) What is your impression?

Two weeks later, you can see the final diagnosis with a brief discussion of this case.

(답안은 한 개만 보내주시기 바랍니다)

Courtesy: 천경아 (Kyung Ah Chun), 충북대학교병원 (Chungbuk National University Hospital)

Caffey’s disease (Infantile cortical hyperostosis)

Discussion

Findings: Bilateral symmetrical, circumferential and smooth periosteal new bone formation and diaphyseal cortical thickening with bowing along the long bones (tibia, humerus, ulna, radius). Thick periosteal reaction (periostitis) with soft tissue swelling in mandible and clavicles.

Differential Diagnosis: In differential diagnosis, hyperostosis produced by trauma, osteomyelitis, congenital syphilis, hypervitaminosis A, and scurvy should be entertained. Long-term prostaglandin administration in neonate with cyanotic congenital cardiac disease can be associated with symmetrical cortical hyperostosis and periosteal reaction, but the mandible typically is spared.

Diagnosis: Caffey’s disease (Infantile cortical hyperostosis)

Discussion: Caffey’s disease is characterized clinically by irritability, fever, and areas of painful and tender soft tissue swelling. Incidence in boys and girls is about equal. The mandible is the most frequently affected bone. The disease is usually self-limited. A viral cause has been considered for the disease, but no organism has been isolated. A definite diagnosis typically is made on plain radiography. A skeletal survey frequently is required. Particular attention should be given to the mandible and thoracic cage. Periosteal reaction and diaphyseal cortical thickening are seen in the affected bones. In familial cases, periosteal reaction may be present at birth. Bilateral involvement is common. Radiographic findings persist for several months with complete recovery usually reported by the end of the second year of life. MRI is not necessary. It does reveal, however, marked soft tissue edema and inflammation surrounding the affected bones.

References:

1. Caffey J. Infantile cortical hyperostosis. J Pediatr 1946;29:541-559.

2. Emmery L, Timmermans J, Christens J, Fryns JP. Familial infantile cortical hyperostosis. Eur J Pediatr 1983;141:58-59.

3. Saatci I, Brown JJ, McAlister WH. MR findings in a patient with Caffey’s diease. Pediatr Radiol 1996;26:68-70.