Maccarone Maria Chiara, Paramento Matilde, Passarotto Edoardo, Contessa Paola, Rubega Maria, Formaggio Emanuela, Masiero Stefano
Department of Neurosciences, Section of Rehabilitation, University of Padova, Padova, Italy; Padova Neuroscience Center, University of Padova, Padova.
Department of Neurosciences, Section of Rehabilitation, University of Padova, Padova, Italy; Department of Information Engineering, University of Padova, Padova.
Eur J Transl Myol. 2025 Mar 31;35(1). doi: 10.4081/ejtm.2024.13249. Epub 2024 Dec 19.
Scoliosis is a three-dimensional spinal deformity characterized by a lateral deviation of at least 10° Cobb, categorized into idiopathic and non-idiopathic forms, caused by identifiable factors like congenital abnormalities, neuromuscular conditions, or genetic syndromes. This case report discusses a 15-year-old girl with growth delay and Growth Hormone (GH) deficiency who experienced rapid scoliosis progression. Initial evaluations were normal, and Electroencephalography (EEG) showed nonspecific alterations, but further assessment revealed a MYH3 gene variant associated with scoliosis, short stature, and distinct facial features. Treatment with a Lyon ARTbrace and tailored exercises stopped curve progression. This case highlights the need for thorough evaluations in atypical AIS cases to uncover potential causes.
脊柱侧弯是一种三维脊柱畸形，其特征为Cobb角至少有10°的侧方偏移，分为特发性和非特发性两种类型，由先天性异常、神经肌肉疾病或遗传综合征等可识别因素引起。本病例报告讨论了一名15岁生长发育迟缓且生长激素（GH）缺乏的女孩，她经历了脊柱侧弯的快速进展。初始评估正常，脑电图（EEG）显示非特异性改变，但进一步评估发现了一个与脊柱侧弯、身材矮小和独特面部特征相关的MYH3基因变异。使用里昂ART支具和定制运动进行治疗后，侧弯进展停止。本病例强调了在非典型特发性脊柱侧弯病例中进行全面评估以发现潜在病因的必要性。
