Rubinstein-Taybi syndrome with scoliosis

Abstract

Study DesignCase report.ObjectiveThe authors present the case of a 14-year-old boy with Rubinstein-Taybi syndrome (RSTS) presenting scoliosis.Summary of Background DataThere have been no reports on surgery for RSTS presenting scoliosis.MethodsThe patient was referred to our hospital for evaluation of a progressive spinal curvature. A standing anteroposterior spine radiograph at presentation to our hospital revealed an 84-degree right thoracic curve from T6 to T12, along with a 63-degree left lumbar compensatory curve from T12 to L4. We planned a two-staged surgery and decided to fuse from T4 to L4. The first operation was front-back surgery because of the rigidity of the right thoracic curve. The second operation of lumbar anterior discectomy and fusion was arranged 9 months after the first surgery to prevent the crankshaft phenomenon due to his natural course of adolescent growth. To avoid respiratory complications, the patient was put on a respirator in the ICU for several days after both surgeries.ResultsFull-length spine radiographs after the first surgery revealed no instrumentation failure and showed that the right thoracic curve was corrected to 31 degrees and the left lumbar curve was corrected to 34 degrees. No postoperative complications occurred after both surgeries.ConclusionsWe succeeded in treating the patient without complications. Full-length spine standing radiographs at one year after the second operation demonstrated a stable bony arthrodesis with no loss of initial correction.

Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report

“…Hypotonia, ligamentous laxity and hyper-extensible joints are also very frequent (71.6%). Legg-Calve-Perthes disease (3%), dislocated patella (2.5%), congenital hip dislocation (1.4%) and slipped capital femoral epiphysis (0,6%) have been described [ 3 , 12 – 18 ]. These features are likely to account for a typical stiff hip or knee gait with associated flat feet deformity (83.8%).…”

“…Patients with RTS-2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared with those with RTS-1. Spinal anomalies, such as spina bifida, congenital or acquired scoliosis, kyphosis, and lordosis have been commonly described in patients with RTS-1 (75.3%) [ 3 , 12 – 14 ]. There have been previous reports of surgical treatment to address thumb deformity, polydactyly, patellar dislocation, cervical myelopathy and tethered cord, with no documented peri-operative complications [ 13 – 18 ].…”

Perioperative management of a patient of Rubinstein-Taybi syndrome with ovarian cyst for laparotomy

“…[ 5 ] Multisystem involvement like airway, cardiac, musculoskeletal, respiratory, and urogenital system poses challenge to anesthesiologist for managing such cases [ Table 1 ]. [ 1 2 3 4 5 6 7 ]…”

“…The airway management is challenging in such patients in view of craniofacial abnormalities, laryngotracheal abnormalities, obstructive sleep apnea, gastroesophageal reflux disease, increased risk of aspiration, mental retardation (noncooperation), and increased risk of arrhythmias with succinylcholine. [ 2 3 4 7 ] The abnormalities of the head and face include a microcephaly, antimongoloid faces, high-arched palate, widely spaced eyes (hypertelorism), a broad nasal bridge, an abnormally large or “beak-shaped” nose, and an unusually small, hypoplastic lower jaw (micrognathia) with small mouth opening, and bucked upper incisors. [ 2 4 7 ] We also observed a large floppy epiglottis which has not been reported earlier in RTS.…”

Letter to the Editor Multiple keloids in a 16-year-old boy with Rubinstein-Taybi syndrome

“…Other physical findings may include eye anomalies (ptosis of the eyelids, obstruction of a nasolacrimal duct, refractory problems), congenital heart defects, joint hypermobility and some skin problems such as high susceptibility to keloid formation and hypertrichosis. Patients with RSTS are prone to develop brain tumours (meningioma) and leukaemia before the age of 15 [ 6 , 8 , 9 ].…”