Effective Conservative Management of Severe Scoliosis in a Girl with Prader–Willi Syndrome: A 20-Year Case Study Follow-Up

<b>Background</b>: Prader-Willi syndrome (PWS) is a rare syndrome that presents in about 1 in 25,000 newborns. It is characterized by a typical phenotype that includes short stature, hypothyroidism and hypogonadism, cognitive and developmental delays, slow growth, obesity, and, in most patients, scoliosis. These patients generally have a life expectancy of less than 60 years, with respiratory distress being the leading cause of death; scoliosis is not the primary cause of these respiratory problems, but may contribute to their worsening. Therefore, accurately diagnosing and managing scoliosis is crucial for improving the life expectancy of PWS patients. Previous studies have shown a limited effectiveness of bracing due to a combination of factors, including generalized hypotonia, rapid early progression, poor brace compliance, and thus frequent progression to surgical intervention. <b>Case presentation</b>: This case report presents a 20-year follow-up of a female patient with PWS. Multiple clinical parameters were collected at every follow-up appointment. Throughout this extended observation and treatment period, the patient used two push-up braces of different rigidity, resulting in improvements in the thoracic and lumbar Cobb angle and the thoracic angle of trunk rotation. The treatment protocol was based on a shared decision with the parents and the patient. <b>Conclusions</b>: This case demonstrates how consistent and thorough follow-up can result in a successful, conservative treatment of a severe secondary scoliosis, thereby preventing the need for a major surgical procedure during growth.

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Journal
Journal of Clinical Medicine
Published
2025-10-17
DOI
https://doi.org/10.3390/jcm14207350
Primary Topic
Genetic Syndromes and Imprinting
Type
article
Field-Weighted Citation Impact
0.00

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article

Effective Conservative Management of Severe Scoliosis in a Girl with Prader–Willi Syndrome: A 20-Year Case Study Follow-Up

Marcello Meggiolaro, Stefano Négrini, Fabio Zaina, Calogero Malfitano et al.
Journal of Clinical Medicine
Genetic Syndromes and Imprinting
article

Effective Conservative Management of Severe Scoliosis in a Girl with Prader–Willi Syndrome: A 20-Year Case Study Follow-Up

Marcello Meggiolaro, Stefano Négrini, Fabio Zaina, Calogero Malfitano, Valentina Palloni, Giorgio Ferriero, Francesco Negrini, Elena Brevi, Piero Benfatti
article en

Abstract

<b>Background</b>: Prader-Willi syndrome (PWS) is a rare syndrome that presents in about 1 in 25,000 newborns. It is characterized by a typical phenotype that includes short stature, hypothyroidism and hypogonadism, cognitive and developmental delays, slow growth, obesity, and, in most patients, scoliosis. These patients generally have a life expectancy of less than 60 years, with respiratory distress being the leading cause of death; scoliosis is not the primary cause of these respiratory problems, but may contribute to their worsening. Therefore, accurately diagnosing and managing scoliosis is crucial for improving the life expectancy of PWS patients. Previous studies have shown a limited effectiveness of bracing due to a combination of factors, including generalized hypotonia, rapid early progression, poor brace compliance, and thus frequent progression to surgical intervention. <b>Case presentation</b>: This case report presents a 20-year follow-up of a female patient with PWS. Multiple clinical parameters were collected at every follow-up appointment. Throughout this extended observation and treatment period, the patient used two push-up braces of different rigidity, resulting in improvements in the thoracic and lumbar Cobb angle and the thoracic angle of trunk rotation. The treatment protocol was based on a shared decision with the parents and the patient. <b>Conclusions</b>: This case demonstrates how consistent and thorough follow-up can result in a successful, conservative treatment of a severe secondary scoliosis, thereby preventing the need for a major surgical procedure during growth.

Journal of Clinical MedicineVol. 14(20)
University of Insubria (IT), University of Milan (IT), Istituti Clinici Scientifici Maugeri (IT), Istituti Clinici di Perfezionamento (IT), Istituto Clinico Sant'Ambrogio (IT), Istituto Scientifico Italiano Colonna Vertebrale (IT), Società Italiana di Medicina Generale (IT)
Ministero della Salute
Openalex Percentile: Top 68%
Genetic Syndromes and Imprinting
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