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 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.

Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort

“…Thoracic insufficiency is a rare but known complication of Shwachman Diamond syndrome [27][28][29][30] and many of the other syndromes represented in our cohort, though has not been previously reported in Pfeiffer syndrome, X-linked syndromic mental retardation Turner Type (HUWE1-related intellectual disability), or Intellectual Developmental Disorder X-Linked Type 99 (USP9Xrelated intellectual disability). Of note, there is one prior report of scoliosis in Pfeiffer syndrome, but there was no associated thoracic insufficiency 31 . Severe scoliosis has been reported in the related craniosynostosis Crouzon syndrome 32 , though is rare.…”

A Modern View of the Peculiarities of Managing Children with Pfeiffer Syndrome (A Literature Review)

“…При помощи компьютерной томографии с трехмерной реконструкцией головного мозга (рис. 3, 4 -данные литературы и нашего наблюдения) можно выявить: отсутствие визуализации швов, пороки развития мозга, атрезию хоан, увеличение желудочковой системы [9,19]. При 2-м типе СП имеются также психические, неврологические нарушения, с плохим прогнозом и частой ранней смертью пациентов [6].…”