SCOLIOSIS IN MAINZER-SALDINO SYNDROME: A CASE REPORT AND REVIEW OF THE LITERATURE

S. Amico¹ , D. Scoscina¹ , G. Facco¹ , N. Specchia² , A. P. Gigante² , M. Martiniani²

¹ Department of Clinical and Molecular Sciences, Università Politecnica delle Marche, Ancona, Italy
² Clinic of Adult and Pediatric Orthopedics, Department of Clinical and Molecular Sciences, Polytechnic University of Marche, Ancona, Italy

Correspondence to:

Journal of Orthopedics 2023 Jan-Apr; 15(1): 37-47
https://doi.org/10.69149/orthopedics/2023v15iss1_66

Received: 16 January 2023 Accepted: 24 February 2023

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Abstract

Mainzer-Saldino Syndrome (MZSDS) is a rare autosomal recessive disease caused by mutations in gene IFT140 encoding intraflagellar transport protein, a subunit of the IFT-A complex involved in retrograde ciliary transport. MZSDS is a multisystem disorder characterized by chronic renal disease and skeletal abnormalities: phalangeal cone-shaped epiphyses, short stature, short-ribs thoracic dysplasia, pelvic deformities, maxillofacial and proximal epiphysis and femur metaphysis abnormalities. Scoliosis has never been described as one of the features of this syndrome. We present the case of 26-year-old Italian Caucasian man affected by MZSDS with a severe scoliosis surgically treated. Cobb angle of major thoracic curve was 120° and Cobb angle of major lumbar curve was 110°. Curve flexibility was evaluated on the preoperative standing lateral bending X-ray and side-bending X-ray. By means of CT images, we obtained a Three- Dimensional (3D) model of spine used for the preoperative study. A single-posterior spinal arthrodesis extending from T2 to L5 vertebrae was performed. No intraoperative and early postoperative surgical complications occurred. Postoperative radiographs demonstrated main thoracic correction from 120° to 56° (53.7% correction rate), main lumbar correction from 110° to 52° (52.7% correction rate). In conclusion, our hypothesis is that scoliosis may be a skeletal feature of MZSDS. It can produce a severe deformity needing for major surgical treatment. Preoperative multidisciplinary assessment is necessary. Scoliosis correction and maintenance at follow-up result in the improvement of pulmonary function and high patient satisfaction.

Keywords: 3D printing, case report, MZSDS, posterior spinal fusion, spinal deformities