Thoracolumbar Scoliosis in a Patient With Proteus Syndrome

Abstract

The Proteus syndrome (PS) is a complex and rare congenital hamartomatous condition with a wide range of malformations. Little is reported about spinal deformity associated with this syndrome.This study presents a case of scoliosis occurring in the setting of PS and explores the possible mechanisms between the 2 diseases.The patient is a 17-year-old Chinese female with scoliosis and hemihypertrophy of the right upper and lower extremity as well as exostosis of the right lower leg joint including the hip, knee, ankle, and toes. These manifestations were suggestive of PS. She underwent a posterior correction at thoracic 2-lumbar 4 (T5–L4) levels, using the Moss-SI spinal system. At 3-month follow-ups, the patient was clinically pain free and well balanced. Plain radiographs showed solid spine fusion with no loss of deformity correction.The severity of scoliosis in PS is progressively aggravated and the correction of the extensive spinal deformities is generally difficult. Therefore, early diagnosis is required for adequate interdisciplinary treatment.

Proteus syndrome of the foot: A case report and literature review

“…Reassessment of the Proteus syndrome literature: Application of diagnostic criteria to published cases (11) 2004 A mosaic activating mutation in AKT1 associated with the Proteus syndrome (19) 2011 Proteus syndrome: Three case reports with a review of the literature (28) 2012 Proteus syndrome: Clinical profile of six patients and review of literature (29) 2013 Thoracolumbar scoliosis in a patient with Proteus syndrome: A case report and literature review (30) 2015 Island nail flap in the treatment of foot macrodactyly of the first ray in children: report of two cases (31) 2015 Recurrent cerebriform connective tissue nevus on the foot of a patient with Proteus syndrome (32) 2016 Proteus syndrome: A case report and review of the literature (14) 2017 Proteus syndrome (33) 2017 Case report: 'Incognito' Proteus syndrome (34) 2018 and rate of complications over time, early surgical interventions are vital to reduce extra malformations, physical defects, or loss of movement (6). In addition, it is necessary to monitor the patients for potential tumor development.…”

Proteus syndrome with neurological manifestations: A rare presentation

“…[ 3 4 5 ] The exact cause, pathogenesis and embryologic origin of PS still remains a subject of discussion. [ 6 7 ]…”