Analysis of Single Nucleotide Polymorphism in Adolescent Idiopathic Scoliosis in Korea: For Personalized Treatment

PURPOSE: The incidence of adolescent idiopathic scoliosis (AIS) has rapidly increased, and with it, physician consultations and expenditures (about one and a half times) in the last 5 years. Recent etiological studies reveal that AIS is a complex genetic disorder that results from the interaction of multiple gene loci and the environment. For personalized treatment of AIS, a tool that can accurately measure the progression of Cobb's angle would be of great use. Gene analysis utilizing single nucleotide polymorphism (SNP) has been developed as a diagnostic tool for use in Caucasians but not Koreans. Therefore, we attempted to reveal AIS-related genes and their relevance in Koreans, exploring the potential use of gene analysis as a diagnostic tool for personalized treatment of AIS therein. MATERIALS AND METHODS: A total of 68 Korean AIS and 35 age- and sex-matched, healthy adolescents were enrolled in this study and were examined for 10 candidate scoliosis gene SNPs. RESULTS: This study revealed that the SNPs of rs2449539 in lysosomal-associated transmembrane protein 4 beta (LAPTM4B) and rs5742612 in upstream and insulin-like growth factor 1 (IGF1) were associated with both susceptibility to and curve severity in AIS. The results suggested that both LAPTM4B and IGF1 genes were important in AIS predisposition and progression. CONCLUSION: Thus, on the basis of this study, if more SNPs or candidate genes are studied in a larger population in Korea, personalized treatment of Korean AIS patients might become a possibility.

Gradual Neurologic Deterioration Post Kyphoscoliosis Correction Surgery: A Case Report

A 13-year-9-month-old female child presented with congenital kyphoscoliosis along with progressive paraparesis. Radiographs confirmed kyphoscoliosis and magnetic resonance imaging revealed a stretched and flattened spinal cord over the kyphotic deformity and a T7 hemivertebra. She underwent a posterior correction of the curve along with posterior decompression and a posterior to anterior excision of T7 hemivertebra to relieve her of the deteriorating neurology. While carrying out the excision of T7 hemivertebra, her trans cranial electrical motor evoke potential dropped. Consequently, she was administered a mega dose steroid therapy. After a positive wake-up test, the excision was discontinued and surgery was concluded by in situ fixation of the deformity with short rods. Thereafter, a gradual deterioration in the neurologic status was observed and patient became paraplegic on the fourth post operative day. In this case report, we try to analyze various causes for gradual deterioration in neurologic status.