SCOLIOSIS ASSOCIATED WITH PROTEUS SYNDROME: REPORT OF 2 CASES AND REVIEW OF LITERATURE.

Structured abstract summarized Proteus syndrome (PS) is a complex genetic disorder, characterized by the sporadic appearance of hamartomatous lesions that follow a mosaic pattern and have a progressive evolution. It affects most of the mesodermal origin tissues, including the bone. Scoliosis is a common manifestation, with great variability and specific peculiarities, but little has been published about it. Purpose Presentation of 2 clinical cases of patients with PS that underwent scoliosis surgery and literature review. Methods Two 17-year-old’s, a female (Patient 1) and a male (Patient 2), both diagnosed of PS, were being followed-up for scoliosis. Patient 1 had a right thoracic curve with a Cobb angle (CA) of 69,1o, while patient 2 had, as well, a right thoracic curve of 106,8o. In both patients a posterior fusion was performed, associating rib and ponte osteotomies at the level of the apex in patient 2. A minimum 2-year follow-up was done. Results Both patients had a satisfactory evolution without neurological or other complications, with a high degree of correction of their curves (CA 29,2o and 55,6o respectively). Their total SRS-22 score at the last visit was 4,77 and 4,64. Conclusion Both PS and scoliosis are conditions associated with deformities and physical limitations that decrease the health-related quality of life (HRQoL) of these patients. Due to the severity of the spinal deformities and their risk of progression, early diagnosis and prompt treatment is recommended. Despite being highly complex, scoliosis surgery allows a satisfactory deformity correction and consequently improves the HRQoL of patients with PS.