Pfeiffer syndrome in an adult with previous surgical correction: A case report of CT findings

Abstract

ABSTRACT: Pfeiffer syndrome, affecting roughly 1 in 100,000 individuals is characterized by acrocephalosyndactyly – the premature closure of skull sutures (craniosynostosis). These acrocephalosyndactyly syndromes which are often sporadic de novo but also autosomal dominant in inheritance can be characterized by the fact that they often involve FGFR and TWIST genes. In the presented case, a 27-year old male level three trauma admission displayed skull abnormalities on physical examination that history taking confirmed was the result of pediatric surgically corrected Pfeiffer syndrome. Noncontrast brain CT as part of his trauma work-up revealed characteristic Pfeiffer syndrome imaging pattern of midface hypoplasia, nonvisualization of coronal and sagittal sutures, and a degree of obstructive hydrocephalus. Pfeiffer syndrome requires extensive pediatric surgery often with poor adult follow up. The case presented provides good visualization of characteristic skull abnormalities in a surgically corrected adult. By virtue of imaging an adult, this provides readers with a unique look at the long-term viability and the body's resulting physiological adaptations of the extensive mandatory pediatric surgery these patients undergo.

Keywords

• Craniosynostosis
• Craniofacial-skeletal-dermatologic dysplasia
• Noack
• FGF
• Pfeiffer
• Acrocephalosyndactyly