Fava M, Ciani G, Ghermandi R, Cini C, Maccaferri B, Gasbarrini A
Spine Surgery Department, IRCCS Rizzoli Orthopedic Institute, Bologna, Italy.
Front Surg. 2025 Jun 18;12:1559346. doi: 10.3389/fsurg.2025.1559346. eCollection 2025.
Familial dysautonomia (FD) is an inherited severe congenital disease and a rare syndrome associated with progressive neuronal degeneration throughout life. Among its orthopedic conditions, FD patients have an higher incidence of kyphoscoliosis and osteomyelitis. Due to the rarity of FD and the presence of multiple comorbidities, there are currently no established guidelines for the management of vertebral pathologies associated with FD. Hence, this highlights the importance of sharing the case of our patient. The purpose of our study is to report the case of a 45-year-old patient with FD who underwent multiple spinal surgeries at our clinic, to provide possible indications for the most effective management of this rare condition.
家族性自主神经功能障碍(FD)是一种遗传性严重先天性疾病,是一种罕见综合征,与终生进行性神经元变性有关。在其骨科病症中,FD患者脊柱侧弯和骨髓炎的发病率较高。由于FD罕见且存在多种合并症,目前尚无针对与FD相关的脊柱病变管理的既定指南。因此,这凸显了分享我们患者病例的重要性。我们研究的目的是报告一名45岁FD患者在我们诊所接受多次脊柱手术的病例,为这种罕见病症的最有效管理提供可能的指征。