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Scoliosis and rare diseases: our experience with the Prader–Willi syndrome

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Abstract

Introduction

Prader–Willi syndrome (PWS) represents a difficult challenge for spine surgeons, due to the association of a structural scoliosis, with a prevalence between 15 and 86%. Conservative therapy is a viable option, but surgery is increasingly becoming the treatment of choice.

Methods

The authors reviewed a series of 15 patients affected by PWS treated at their institution between 2008 and 2023. The mean age at index treatment was 9 years and 3 months (range 1–15 years) with a prevalence of female subjects. Primary scoliotic curve ranged from 14 to 102°, and mean thoracic kyphosis was 56° (range 20–75°). Eleven patients underwent conservative treatment, while four were treated surgically.

Results

Mean follow-up was 5 years and 3 months (range 2–12 years). Among the 11 patients treated conservatively, only two showed improvements of the coronal curve, while the remaining nine displayed a worsening of the deformity during follow-up. Complication rate after surgery was 75%. One patient developed paraplegia after pedicle screw positioning. One patient displayed rod breakage and PJK that required revision surgery proximally. Hardware deep infection was seen in one case where it was necessary to proceed with instrumentation removal after 10 years.

Discussion and conclusions

Spine surgery represents a convincing option in patients affected by PWS, but the risks of complications are high. Correct patient selection must be the main objective, and multilevel pedicle screw fixation should be the procedure of choice. Traditional growing rod should be prudently evaluated in every single case.

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Authors and Affiliations

  1. Department of Pediatric Orthopedics, IRCCS Istituto “G. Gaslini”, Via G. Gaslini 5, 16148, Genoa, Italy

    Antonio Angelo Andaloro, Flavio Becchetti & Maria Beatrice Michelis

  2. Clinica Ortopedica, University of Genoa, IRCCS A.O.U. San Martino IST, Largo R. Benzi 10, 16132, Genoa, Italy

    Loris James Bari & Matteo Formica

  3. Department of Orthopaedics, Università degli Studi della Campania “Luigi Vanvitelli”, via de Crecchio 4, 80138, Naples, Italy

    Luigi Aurelio Nasto

Authors
  1. Antonio Angelo Andaloro
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  2. Loris James Bari
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  3. Flavio Becchetti
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  4. Matteo Formica
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  5. Maria Beatrice Michelis
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  6. Luigi Aurelio Nasto
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Correspondence to Loris James Bari.

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Andaloro, A.A., Bari, L.J., Becchetti, F. et al. Scoliosis and rare diseases: our experience with the Prader–Willi syndrome. Eur Spine J (2024). https://doi.org/10.1007/s00586-024-08247-0

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  • DOI: https://doi.org/10.1007/s00586-024-08247-0

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