Work

A neurophysiological and genetic assessment of a case of rapidly progressive scoliosis

Year: 2024
Type: article
Study design: Case Report
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.
Language: English
Subfield: Surgery
Field: Medicine
Open Access status: gold
Estimated APC paid: $377
OpenAlex ID: W4405604660
FWCI: 1.14
Cites: 10
Cited by: 3
Related to: 10