Proteus syndrome: a case report with bone scintigraphy findings

Area of Science:

• Medical Imaging
• Genetics
• Pediatrics

Background:

• Proteus syndrome is a rare genetic disorder causing asymmetrical overgrowth of multiple tissues.
• Accurate diagnosis is crucial for managing the complex manifestations of Proteus syndrome.

Observation:

• A six-year-old boy with Proteus syndrome underwent bone scintigraphy to evaluate for osteomyelitis.
• The imaging study revealed characteristic deformities associated with Proteus syndrome.

Findings:

• Bone scintigraphy successfully ruled out osteomyelitis in this patient.
• The findings suggested cellulitis and demonstrated distinct Proteus syndrome-related deformities.

Implications:

• Understanding these specific bone scintigraphy findings is essential for accurate interpretation in Proteus syndrome cases.
• This knowledge can prevent misdiagnosis and guide appropriate patient management.