对一例快速进展性脊柱侧凸进行神经生理学和遗传学评估。

IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL European Journal of Translational Myology Pub Date : 2024-12-19 DOI:10.4081/ejtm.2024.13249
Maria Chiara Maccarone, Matilde Paramento, Edoardo Passarotto, Paola Contessa, Maria Rubega, Emanuela Formaggio, Stefano Masiero
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引用次数: 0

摘要

脊柱侧凸是一种三维脊柱畸形,其特征是侧偏至少10°Cobb,分为特发性和非特发性形式,由先天性异常、神经肌肉状况或遗传综合征等可识别因素引起。这个病例报告讨论了一个15岁的女孩生长迟缓和生长激素(GH)缺乏谁经历快速脊柱侧凸进展。初步评估正常,脑电图(EEG)显示非特异性改变,但进一步评估显示MYH3基因变异与脊柱侧凸、身材矮小和明显的面部特征相关。使用里昂支架和量身定制的锻炼可以阻止弯曲的进展。该病例强调了对非典型AIS病例进行全面评估以发现潜在病因的必要性。
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A neurophysiological and genetic assessment of a case of rapidly progressive scoliosis.

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.

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来源期刊
European Journal of Translational Myology
European Journal of Translational Myology MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
3.30
自引率
27.30%
发文量
74
审稿时长
10 weeks
期刊最新文献
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