Maria Chiara Maccarone, Matilde Paramento, Edoardo Passarotto, Paola Contessa, Maria Rubega, Emanuela Formaggio, Stefano Masiero
{"title":"A neurophysiological and genetic assessment of a case of rapidly progressive scoliosis.","authors":"Maria Chiara Maccarone, Matilde Paramento, Edoardo Passarotto, Paola Contessa, Maria Rubega, Emanuela Formaggio, Stefano Masiero","doi":"10.4081/ejtm.2024.13249","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":46459,"journal":{"name":"European Journal of Translational Myology","volume":" ","pages":""},"PeriodicalIF":1.8000,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"European Journal of Translational Myology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4081/ejtm.2024.13249","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, RESEARCH & EXPERIMENTAL","Score":null,"Total":0}
引用次数: 0
Abstract
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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