A Consultation for Pediatric Neck Mass Resulting in a Rare Diagnosis of Klippel-Feil Syndrome: A Case Report.

Klippel-Feil syndrome (KFS) is a rare congenital cervical vertebrae fusion syndrome characterized by the clinical triad of low posterior hairline, limited head and neck range of motion, and short neck. The gene defects described with this syndrome are involved in the maturation and differentiation of bone during embryological development. As such, related defects seen in patients with KFS include genitourinary anomalies, cardiac defects, neurological abnormalities, and other musculoskeletal anomalies. Patients with this syndrome should be worked up for these related malformations, evaluated for risk of comorbidities, and educated on avoiding contact sports or activities that may put the cervical spine at risk for trauma. The case report here describes a pediatric patient who presents to the outpatient otolaryngologist complaining of a pediatric neck mass. Workup of the mass, including imaging, revealed a diagnosis of Klippel-Feil syndrome. The presentation of this case highlights the importance of maintaining KFS on the list of possible diagnoses along with scoliosis, synostosis syndrome, and Wildervanck syndrome for the otolaryngologist working up a neck mass and the role making an early diagnosis can have in preventing patient morbidity and mortality.

Evaluation of Copan FecalSwab™ preserved stool specimens with the BD MAX™ Enteric Bacterial Panel and the BD MAX™ Extended Enteric Bacterial Panel.

The objectives of this study were to assess the ideal volume of Copan FecalSwab™ (FS) preserved stool sample to use with the BD MAX™ Enteric Bacterial Panel and the Extended Enteric Bacterial Panel (BDM GIP) and to compare the performance of FS to the recommended Meridian Para-Pak Cary-Blair medium (PP) for the BDM GIP. Three different input volumes (10, 25, and 50 µL) of stool inoculated with American Type Culture Collection strains representing the targets detected by BDM GIP were tested. Additionally, 144 unpreserved stool samples submitted for gastrointestinal (GI) testing were transferred to PP and FS media and tested by the BDM GIP using 10 µL of PP and 50 µL of FS media. A 100% agreement was observed between PP and FS results. The performance of 50 µL of FS stool preserved sample was equivalent to 10 µL of traditional Cary-Blair PP preserved specimens for GI pathogens detection using the BDM GIP.