Objectives: To examine the long-term adherence to serial imaging of patients with sporadic vestibular schwannoma and analyze factors associated with being lost to follow-up. Study Design: Retrospective chart review with telephone interview. Setting: Single tertiary care center. Methods: Patients with a sporadic vestibular schwannoma and started on observational surveillance management between January 2005 and December 2010 were included. Demographic data, tumor size, hearing and vestibular changes, and follow-up length were recorded. Patient factors were analyzed for association with being lost to follow-up. Results: In total, 122 patients were included with a median length of follow-up of 5 months (range, 0-146). After initial surveillance, 22.1% (n = 27) of patients had a change in management to either microsurgery or radiosurgery. Of the remaining 77.9% (n = 95), nearly half (44.2%, n = 42) never returned for a second visit, and all but 3 were eventually lost to follow-up. There was no association between sex, race, age at diagnosis, initial tumor size, insurance status, household income, or driving distance to hospital and being lost to follow-up. Of 26 interviewed patients initially lost to follow-up, 11 (42.3%) sought care at another institution, 5 (19.2%) chose to no longer receive care, 1 (3.8%) had transportation difficulties, and 9 (36.4%) had poor understanding of their diagnosis or instructions. Conclusions: The length of follow-up for patients undergoing surveillance of sporadic vestibular schwannoma varies widely, and patients are commonly lost to follow-up. Further efforts should be made to identify at-risk patients and provide adequate education to improve long-term surveillance.

Current major barriers for using next-generation sequencing (NGS) technologies in genetic mutation screening on an epidemiological scale appear to be the high accuracy demanded by clinical applications and high per-sample cost. How to achieve high efficiency in enriching targeted disease genes while keeping a low cost/sample is a key technical hurdle to overcome. We validated a cDNA-probe-based approach for capturing exons of a group of genes known to cause deafness. Polymerase chain reaction amplicons were made from cDNA clones of the targeted genes and used as bait probes in hybridization for capturing human genomic DNA (gDNA) fragments. The cDNA library containing the clones of targeted genes provided a readily available, low-cost, and regenerable source for producing capture probes with standard molecular biology equipment. Captured gDNA fragments by our method were sequenced by the Illumina NGS platform. Results demonstrated that targeted exons captured by our approach achieved specificity, multiplexicity, uniformity, and depth of coverage suitable for accurate sequencing applications by the NGS systems. Reliable genotype calls for various homozygous and heterozygous mutations were achieved. The results were confirmed independently by conventional Sanger sequencing. The method validated here could be readily expanded to include all-known deafness genes for applications such as genetic hearing screening in newborns. The high coverage depth and cost benefits of the cDNA-probe-based exon capture approach may also facilitate widespread applications in clinical practices beyond screening mutations in deafness genes.

Unilateral facial paralysis (FP) in the pediatric population is a rare entity secondary to multiple etiologies including infectious, vascular, and neoplastic. In persistent or recurrent FP, imaging can demonstrate a peripheral facial nerve (FN) lesion. Given the rarity of FN lesions, however, there is limited literature regarding optimal management. In this case series, we describe the presentation, evaluation, and management of unilateral FP in three pediatric patients along with a review of the literature. All patients presented with complete FP due to a peripheral FN lesion or compression of the FN. A combined mastoid and middle cranial fossa approach was utilized for excision in two cases, and the other child underwent a translabyrinthine approach. The pathology of the lesions revealed a meningioma, an arachnoid cyst, and a hemangioma. Presentation, evaluation, post-operative outcomes, as well as final pathologies are discussed.