An Adolescent With a Retropharyngeal Swelling: To Drain or Not to Drain?: Keeping a Broad Vision During the COVID-19 Pandemic.

CASE PRESENTATION: An 18-year-old patient with a history of COVID-19 (1 month previously) was admitted with malaise and complaints of a stiff neck, a left-sided cervical mass, headache, and difficulty in swallowing and breathing, which had been present for 4 days. Two days after the onset of the first symptoms, a painless skin rash on the legs, arms, palms of both hands, and soles of both feet developed. Despite 2 days of treatment with antibiotics (amoxicillin/clavulanic acid, 500/125 mg three times daily orally), symptoms progressed. On presentation, the patient was alert and oriented, there were no neurologic disorders, and all symptoms related to the recent COVID-19 infection had subsided. His medical history was negative for sexually transmitted diseases, and the patient had received all vaccines except for meningococcus and COVID-19.

Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.

Pathogenic missense variants in COCH are associated with DFNA9, an autosomal dominantly inherited type of progressive sensorineural hearing loss with or without vestibular dysfunction. This study is a comprehensive overview of genotype-phenotype correlations using the PRISMA and HuGENet guidelines. Study characteristics, risk of bias, genotyping and data on the self-reported age of onset, symptoms of vestibular dysfunction, normative test results for vestibular function, and results of audiovestibular examinations were extracted for each underlying pathogenic COCH variant. The literature search yielded 48 studies describing the audiovestibular phenotypes of 27 DFNA9-associated variants in COCH. Subsequently, meta-analysis of audiometric data was performed by constructing age-related typical audiograms and by performing non-linear regression analyses on the age of onset and progression of hearing loss. Significant differences were found between the calculated ages of onset and progression of the audiovestibular phenotypes of subjects with pathogenic variants affecting either the LCCL domain of cochlin or the vWFA2 and Ivd1 domains. We conclude that the audiovestibular phenotypes associated with DFNA9 are highly variable. Variants affecting the LCCL domain of cochlin generally lead to more progression of hearing loss when compared to variants affecting the other domains. This review serves as a reference for prospective natural history studies in anticipation of mutation-specific therapeutic interventions.

Treatment of an extracranial internal carotid artery aneurysm with a flow-diverting stent.

No evidenced-based guidelines exist for the treatment of extracranial carotid artery aneurysms (ECAAs). The "gold standard" for symptomatic ECAAs is surgical intervention. In distally located ECAAs just below the base of the skull, endovascular monotherapy may be beneficial. We present the case of a 21-year-old man with a symptomatic saccular aneurysm in the distal internal carotid artery receiving a flow-diverting stent. The stent was successfully positioned without adverse procedural events. At 6 months, computed tomography angiography revealed secondary occlusion of the aneurysm without further complications. The flow-diverting stent may serve as an additional treatment option for the endovascular specialist considering invasive treatment in patients with an ECAA.