Prevention of Adjacent Segmental Disease after Fusion in Degenerative Spinal Disorder: Correlation between Segmental Lumbar Lordosis Ratio and Pelvic Incidence–Lumbar Lordosis Mismatch for a Minimum 5-Year Follow-up

STUDY DESIGN: Retrospective study. PURPOSE: Associations among risk factors related to adjacent segmental disease (ASD) remain unclear. We evaluated the risk factors and segmental lordosis ratio to prevent ASD developing after lumbar spinal fusion. OVERVIEW OF LITERATURE: Risk factors related to ASD development are age, sex, obesity, pre-existing degeneration, number of fusion segments, and decreased postoperative lumbar lordosis (LL). However, the associations among these factors are still unclear and should be clearly identified. METHODS: We retrospectively reviewed data on 274 patients who underwent lumbar spinal fusion of three segments or below for lumbar degenerative disease from January 2010 to December 2012, with over 5 years of follow-up. Patients with preoperative sagittal vertical axis (SVA) >5 cm were excluded due to sagittal imbalance. A total of 37 patients with ASD and 40 control patients (CTRL) were randomly selected in a similar distribution of matching variables: age, sex, and preoperative degenerative changes. Sex, age, number of fusion segments, radiologic measurements, L4–5–S1/L1–S1 LL ratio, and spinopelvic parameters (pelvic incidence [PI], pelvic tilt [PT], sacral slope [SS], and SVA) were analyzed. Logistic regression was used to analyze the correlation between PI–LL mismatch and L4–5–S1 segmental lordosis rate. RESULTS: No significant difference was found between ASDs and CTRL groups regarding age, sex, number of fusion segments, fusion method, and preoperative and postoperative spinopelvic parameters (PI, SS, PT, and LL). However, regarding the L4–5–S1/L1–S1 lordosis ratio, 50% (p=0.045), 60% (p=0.031), 70% (p=0.042), 80% (p=0.023), and 90% (p=0.023) were statistically significant; 10 group, and the difference was statistically significant (p=0.048). CONCLUSIONS: Patients with a postoperative L4–5–S1/L1–S1 lordosis ratio >50% had less occurrence of ASD. Correcting LL according to PI and physiologic segmental lordosis ratio is important in preventing ASD.

A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome

Recessive mutations of the SLC26A4 (PDS) gene on chromosome 7q31 can cause sensorineural deafness with goiter (Pendred syndrome, OMIM 274600) or NSRD with goiter (at the DFNB4 locus, OMIM 600791). H723R (2168A>G) is the most commonly reported SLC26A4 mutations in Korean and Japanese and known as founder mutation. We recently experienced one patient with enlarged vestibular aqueduct syndrome. The genetic study showed H723R homozygous in the proband and H723R heterozygous mutation in his family members. The identification of a disease-causing mutation can be used to establish a genotypic diagnosis and provide important information to both families and their physicians.