29/10/2025
📢 𝗡𝗲𝘄 𝗽𝘂𝗯𝗹𝗶𝗰𝗮𝘁𝗶𝗼𝗻
Background: Prader–Willi syndrome (PWS) is a rare syndrome that presents in about 1 in 25,000 newborns. It is characterised 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 generalised hypotonia, rapid early progression, poor brace compliance, and thus frequent progression to surgical intervention.
Case presentation: 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.
Conclusions: 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.
𝗞𝗲𝘆 𝗺𝗲𝘀𝘀𝗮𝗴𝗲𝘀 𝗳𝗿𝗼𝗺 𝘁𝗵𝗶𝘀 𝘀𝘁𝘂𝗱𝘆:
• 𝗘𝘃𝗲𝗻 𝗶𝗻 𝗮𝗺𝗯𝘂𝗹𝗮𝘁𝗼𝗿𝘆 𝗽𝗮𝘁𝗶𝗲𝗻𝘁𝘀 𝘄𝗶𝘁𝗵 𝘀𝗲𝘃𝗲𝗿𝗲 𝘀𝗲𝗰𝗼𝗻𝗱𝗮𝗿𝘆 𝘀𝗰𝗼𝗹𝗶𝗼𝘀𝗶𝘀, 𝗲𝘅𝗲𝗿𝗰𝗶𝘀𝗲 𝗮𝗻𝗱 𝗯𝗿𝗮𝗰𝗶𝗻𝗴 𝗰𝗮𝗻 𝗮𝗰𝗵𝗶𝗲𝘃𝗲 𝗿𝗲𝗺𝗮𝗿𝗸𝗮𝗯𝗹𝗲 𝗿𝗲𝘀𝘂𝗹𝘁𝘀.
• 𝗧𝗵𝗶𝘀 𝘀𝘁𝗿𝗮𝘁𝗲𝗴𝘆 𝗰𝗮𝗻 𝗽𝗼𝘀𝘁𝗽𝗼𝗻𝗲 𝘀𝘂𝗿𝗴𝗲𝗿𝘆, 𝗿𝗲𝗱𝘂𝗰𝗲 𝘁𝗵𝗲 𝗻𝗲𝗲𝗱 𝗳𝗼𝗿 𝗿𝗲𝗽𝗲𝗮𝘁𝗲𝗱 𝗶𝗻𝘁𝗲𝗿𝘃𝗲𝗻𝘁𝗶𝗼𝗻𝘀, 𝗼𝗿 𝗲𝘃𝗲𝗻 𝗮𝘃𝗼𝗶𝗱 𝘀𝘂𝗿𝗴𝗲𝗿𝘆 𝗶𝗻 𝘀𝗲𝗹𝗲𝗰𝘁𝗲𝗱 𝗰𝗮𝘀𝗲𝘀.
• 𝗟𝗼𝗻𝗴-𝘁𝗲𝗿𝗺 𝘀𝘂𝗰𝗰𝗲𝘀𝘀 𝗱𝗲𝗽𝗲𝗻𝗱𝘀 𝗵𝗲𝗮𝘃𝗶𝗹𝘆 𝗼𝗻 𝗽𝗮𝘁𝗶𝗲𝗻𝘁 𝗮𝗻𝗱 𝗳𝗮𝗺𝗶𝗹𝘆 𝗰𝗼𝗺𝗽𝗹𝗶𝗮𝗻𝗰𝗲: this 20-year journey was full of emotions, ups and downs, but above all required unwavering discipline and determination.
• 𝗧𝗵𝗲𝗿𝗲 𝗶𝘀 𝘀𝘁𝗶𝗹𝗹 𝗺𝘂𝗰𝗵 𝘁𝗼 𝗱𝗶𝘀𝗰𝗼𝘃𝗲𝗿 𝗮𝗯𝗼𝘂𝘁 𝘀𝗲𝗰𝗼𝗻𝗱𝗮𝗿𝘆 𝘀𝗰𝗼𝗹𝗶𝗼𝘀𝗶𝘀, 𝗮𝗻𝗱 𝘁𝗵𝗲 ISICO 𝗴𝗿𝗼𝘂𝗽 𝗶𝘀 𝗮𝗰𝘁𝗶𝘃𝗲𝗹𝘆 𝘄𝗼𝗿𝗸𝗶𝗻𝗴 𝗼𝗻 𝗶𝘁. 👉 Stay tuned!
Read the full article here:https://en.isico.it/isico/ricerca/pdf/ID00723.pdf
