Pfeiffer syndrome in an adult with previous surgical correction: A case report of CT findings
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 char...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2021-09-01
|
| Series: | Radiology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043321003800 |
| _version_ | 1818922653133570048 |
|---|---|
| author | Neil Duggal Adil Omer Sandhya Jupalli Leszek Pisinski Alan V. Krauthamer |
| author_facet | Neil Duggal Adil Omer Sandhya Jupalli Leszek Pisinski Alan V. Krauthamer |
| author_sort | Neil Duggal |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-20T01:56:57Z |
| format | Article |
| id | doaj.art-87aa8e3bba764d9a84ae483d661ed806 |
| institution | Directory Open Access Journal |
| issn | 1930-0433 |
| language | English |
| last_indexed | 2024-12-20T01:56:57Z |
| publishDate | 2021-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj.art-87aa8e3bba764d9a84ae483d661ed8062022-12-21T19:57:27ZengElsevierRadiology Case Reports1930-04332021-09-0116924632468Pfeiffer syndrome in an adult with previous surgical correction: A case report of CT findingsNeil Duggal0Adil Omer1Sandhya Jupalli2Leszek Pisinski3Alan V. Krauthamer4Department of Radiology, NYC Health Hospitals, Harlem, NY, USACorresponding author.; Department of Radiology, NYC Health Hospitals, Harlem, NY, USADepartment of Radiology, NYC Health Hospitals, Harlem, NY, USADepartment of Radiology, NYC Health Hospitals, Harlem, NY, USADepartment of Radiology, NYC Health Hospitals, Harlem, NY, USAABSTRACT: 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.http://www.sciencedirect.com/science/article/pii/S1930043321003800CraniosynostosisCraniofacial-skeletal-dermatologic dysplasiaNoackFGFPfeifferAcrocephalosyndactyly |
| spellingShingle | Neil Duggal Adil Omer Sandhya Jupalli Leszek Pisinski Alan V. Krauthamer Pfeiffer syndrome in an adult with previous surgical correction: A case report of CT findings Radiology Case Reports Craniosynostosis Craniofacial-skeletal-dermatologic dysplasia Noack FGF Pfeiffer Acrocephalosyndactyly |
| title | Pfeiffer syndrome in an adult with previous surgical correction: A case report of CT findings |
| title_full | Pfeiffer syndrome in an adult with previous surgical correction: A case report of CT findings |
| title_fullStr | Pfeiffer syndrome in an adult with previous surgical correction: A case report of CT findings |
| title_full_unstemmed | Pfeiffer syndrome in an adult with previous surgical correction: A case report of CT findings |
| title_short | Pfeiffer syndrome in an adult with previous surgical correction: A case report of CT findings |
| title_sort | pfeiffer syndrome in an adult with previous surgical correction a case report of ct findings |
| topic | Craniosynostosis Craniofacial-skeletal-dermatologic dysplasia Noack FGF Pfeiffer Acrocephalosyndactyly |
| url | http://www.sciencedirect.com/science/article/pii/S1930043321003800 |
| work_keys_str_mv | AT neilduggal pfeiffersyndromeinanadultwithprevioussurgicalcorrectionacasereportofctfindings AT adilomer pfeiffersyndromeinanadultwithprevioussurgicalcorrectionacasereportofctfindings AT sandhyajupalli pfeiffersyndromeinanadultwithprevioussurgicalcorrectionacasereportofctfindings AT leszekpisinski pfeiffersyndromeinanadultwithprevioussurgicalcorrectionacasereportofctfindings AT alanvkrauthamer pfeiffersyndromeinanadultwithprevioussurgicalcorrectionacasereportofctfindings |