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

S. Amico^1*, D. Scoscina¹, G. Facco¹, N. Specchia¹, A.P. Gigante¹ and M. Martiniani²

¹Department of Clinical and Molecular Sciences, Università Politecnica delle Marche, Ancona, Italy;
²Clinic of Adult and Paediatric Orthopaedics, Azienda Ospedaliero-Universitaria, Ospedali Riuniti di Ancona, Ancona, Italy

*Correspondence to:
Silvia Amico,
MD Department of Clinical and Molecular Sciences,
Università Politecnica delle Marche,
Via Tronto 10/a,
60020 Torrette di Ancona, Italy
e-mail: s.amico@pm.univpm.it

Received: 16 January 2023 Accepted: 24 February  2023

ISSN: 1973-6401 Copyright © by BIOLIFE (2023) This publication and/or article is for individual use only and may not be further reproduced without written permission from the copyright holder. Unauthorized reproduction may result in financial and other penalties. Disclosure: All authors report no conflicts of interest relevant to this article.

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