Surgical Treatment of Severe Sprengel's Deformity: A Case Report.

CASE: An adolescent girl who presented with obviously impaired shoulder abduction due to untreated severe Sprengel's deformity underwent deformity correction surgery. Intraoperative neuromonitoring was used to warn of potential brachial plexus injury during a modified Woodward procedure. At 3-month follow-up, range of shoulder abduction had improved significantly. CONCLUSION: Sprengel's deformity is a rare congenital shoulder deformity, and the Woodward procedure could cause nerve injury in patients with severe Sprengel's deformity. Neuromonitoring can be performed intraoperatively to avoid brachial plexus injury.

Clinical diagnosis and treatment of subungual exostosis in children.

Objective: To analyze and summarize the clinical characteristics and treatment effects for subungual exostosis in children. Methods: Clinical data for children with subungual exostosis treated in our department from January 2008 to September 2022 were evaluated. Results: Forty children with subungual exostosis were evaluated, comprising 31 boys (77.5%) and 9 girls (22.5%) with a median age of 9 years (4-17 years). The median disease course was 6 months (1-48 months). Seven patients (17.5%) had definite trauma history and 5 (12.5%) had infection. The toe or finger nail appearance was abnormal in 36 patients and normal in 4 patients. Twenty-seven patients (67.5%) had pain when wearing shoes and walking, and 25 (62.5%) had toenail tenderness. The lesions were located in the distal phalanxes of the toes in 37 patients (92.5%), with 14 patients affected on the left side and 23 on the right side. Twenty-two patients had lesions in the great toe, 6 in the second toe, 6 in the third toe, and 3 in the fourth toe. The lesions in the other 3 patients (7.5%) were located in the distal phalanxes of the fingers, with 2 patients affected in the second finger and 1 in the third finger. Regarding the relationship between lesion location and nail bed, 4 patients were type I, 21 were type II, and 15 were type III. All 40 patients received surgical treatment, with nail removal in 15. The median maximum lesion diameter was 1.0 cm (0.8-2 cm), median operation time was 25 min (20-45 min), median blood loss was 1 ml (1-2 ml), and median postoperative hospital stay was 2 days (1-4 days). All cases were histopathologically confirmed as subungual exostosis. The median follow-up time was 24 months (3-60 months), with normal appearance of the toe or finger nail. There were no complications in 38 patients (95.0%). Two patients (5.0%) relapsed at 3 months postoperatively and underwent a secondary operation, with no subsequent recurrence during 12 months of follow-up. Conclusion: Subungual exostosis in children is a rare benign disease that often occurs in the toes. Selection of the appropriate incision and nail bed treatment based on the relationship between lesion location and nail bed is helpful for improving the treatment effect.

Molecular identification of T-box transcription factor 6 and prognostic assessment in patients with congenital scoliosis: A single-center study.

Background: Congenital scoliosis (CS) is characterized by vertebral malformations. The precise etiology of CS is not fully defined. A compound inheritance of TBX6 was identified in 10% of patients with CS in Han Chinese and formed a distinguishable subtype named TBX6-associated congenital scoliosis (TACS). Methods: To investigate the variants and risk haplotype of TBX6, we recruited 121 patients with CS at Beijing Children's Hospital. We collected the clinical characteristics and surgical treatment options and followed their postoperative prognoses. Results: Eight patients (6.6%) were molecularly diagnosed with TACS and carried the previously defined pathogenic TBX6 compound heterozygous variants. All the eight patients with TACS had the typical TACS clinical feature of hemivertebrae in the lower part of the spine. These patients received posterior hemivertebra resection combined with segmental fusion. Follow-ups revealed satisfactory correction without postoperative complications. Conclusion: We observed a 6.6% prevalence of TACS in our CS cohort. Follow-ups further highlighted that surgical treatment of hemivertebra resection combined with segmental fusion performed well with prognosis for patients with TACS. This could provide valuable information for CS individuals with compound heterozygosity in TBX6.

Genotypes and clinical intervention of patients with neurofibromatosis type 1 associated dystrophic scoliosis.

Objective: To analyze the genotypic characteristics of patients with neurofibromatosis type 1 (NF1) associated dystrophic scoliosis and to summarize the outcomes of the surgical treatment of these patients. Methods: Exome sequencing (ES) combined with multiplex ligation-dependent probe amplification (MLPA) was used for genotypic identification. All patients underwent surgical treatments for spinal deformities, and the outcomes of the surgery was summarized by analyzing the clinical and imaging parameters before and after the surgery. Results: Fourteen patients (six males and eight females) were clinically diagnosed as NF1 associated dystrophic scoliosis with common symptoms including café-au-lait spots, paravertebral tumors, and dystrophic scoliosis. NF1 mutations were detected in 12 (85.7%) patients, including four nonsense mutations, three splicing mutations, three frameshift mutations, and two exon deletions. The first surgical procedure included growing-rod surgery in 10 patients and posterior spinal fusion in four patients. The follow-up duration was 2.3 years (1.0-10.3 years), and the Cobb angle of the main curve improved from 61.5° (30°-125°) pre-operatively to 14.5° (0°-42°) at the last follow-up, with an average correction rate of 74.0% (44-100%). Instrumentation-related complications occurred in four patients during the follow-up period. Conclusions: In patients with dystrophic scoliosis who met the clinical diagnostic criteria for NF1, the mutation detection rate of ES combined with MLPA was 85.7%. There was no mutation hotspot in NF1 gene, molecular diagnosis could offer information about genetic counseling, prenatal diagnosis and eugenics. Surgical treatment according to patient's age and severity could effectively correct the spinal deformities.