A rare variant of Caffey's disease - X-rays, bone scan and FDG PET findings

Area of Science:

• Pediatric Radiology
• Skeletal Dysplasias
• Medical Imaging

Background:

• Caffey's disease, also known as infantile cortical hyperostosis, is a rare disorder characterized by bone and soft tissue abnormalities.
• Early diagnosis is crucial for appropriate management and to differentiate it from other pediatric bone conditions.

Observation:

• An 18-month-old boy presented with a four-month history of fever and limb swelling, including bowing of lower limbs.
• Radiological skeletal surveys revealed significant periosteal new bone formation in the diaphysis of long bones.
• Bone scintigraphy demonstrated diffuse increased tracer uptake in long bones, while FDG PET showed patchy uptake in bones and joints.

Findings:

• The combination of clinical symptoms (fever, limb swelling) and imaging findings (periosteal new bone formation, increased radiotracer uptake) was indicative of Caffey's disease.
• Diagnostic imaging modalities, including bone scan and FDG PET, played a key role in identifying the characteristic bone abnormalities.
• The case highlights the utility of advanced imaging in diagnosing rare pediatric bone disorders.

Implications:

• This case underscores the importance of a comprehensive diagnostic approach integrating clinical presentation and advanced imaging for Caffey's disease.
• Accurate diagnosis facilitates timely intervention and monitoring of disease progression in affected infants.
• Further research into the pathogenesis and optimal treatment strategies for Caffey's disease is warranted.