Rhinolithiasis misdiagnosed as intranasal osteoma: Diagnostic challenges in the telehealth era.

Rhinolithiasis is a rare clinical presentation and may be a diagnostic challenge, often mimicking other intranasal pathologies and difficult to differentiate based on imaging alone. We present the case of a 50-year-old patient with rhinolithiasis who presented with chronic left nasal obstruction and unilateral cyclic pain with foul discharge. After review of her imaging, she was initially misdiagnosed with an intranasal osteoma via telehealth and scheduled for surgical resection. Her true pathology of rhinolithiasis was subsequently identified and treated during an in-person pre-operative clinic visit. In this case report, we review the key characteristic elements of rhinolithiasis presentation, and in doing so, we reveal the limitations inherent to telehealth evaluations, and the considerations needed to be taken into account by providers evaluating intranasal lesions. Specifically, in-person assessment with a detailed endoscopy is critical as part of the complete workup of nasal cavity lesions.

Postoperative dysphagia immediately following pediatric endoscopic laryngeal cleft repair.

OBJECTIVES: In pediatric patients undergoing endoscopic laryngeal cleft repair, immediate postoperative dysphagia is not well-characterized. This study examined whether worsened dysphagia is present in the immediate postoperative period as detected by clinical swallow evaluation, and evaluated how this relates to postoperative change in presenting symptoms and findings on swallow studies. METHODS: A retrospective cohort was conducted at a tertiary academic medical center, evaluating all pediatric patients who underwent endoscopic laryngeal cleft repair by a single surgeon from October 2014 through December 2018. All patients underwent instrumental swallow evaluation preoperatively and clinical swallow evaluation within 24 h following surgery. RESULTS: Thirty-nine patients met inclusion criteria. Based on clinical swallow evaluation performed within 24 h after surgery, 4 patients (10%) were recommended to thicken their diet from preoperative baseline; all others were unchanged. All patients were admitted to the PICU for observation; 34 (87%) discharged on postoperative day 1. Thirty-seven patients attended 6-week follow-up, with 2 (5%) requiring thicker diet since discharge; all others were stable or improved. Prevalence of recurrent respiratory infections, subjective dysphagia, chronic cough, and wheezing significantly decreased after surgery. No statistically significant change occurred in prevalence of aspiration or penetration on instrumental swallow studies postoperatively. CONCLUSION: Endoscopic laryngeal cleft repair is well-tolerated in pediatric patients, and most do not have obviously worsened dysphagia at immediate postoperative evaluation. Improvement in symptoms postoperatively may be a more useful indicator of surgical outcomes beyond instrumental swallow studies alone. The relative stability of these patients provides further evidence that they can likely be managed on the floor or as outpatients rather than in the ICU postoperatively.

Creation of a New Educational Podcast: "Headmirror's ENT in a Nutshell".

Podcasts are online digital audio programs that are disseminated via online subscription that are easily accessible through computers or smartphones. Increasingly, residents and medical students are prioritizing podcasts for asynchronous medical education due to ease of use, convenience (eg, use while exercising or commuting), and repeatability. Some trainees have found podcasts more useful than traditional didactic lectures. Given the increasing requirements of social distancing and the need for distance medical education platforms, podcast production can serve as a useful tool to complement resident and medical student education and is a resource that will remain accessible in perpetuity. An otolaryngology specialty podcast, "Headmirror's ENT in a Nutshell," was created to augment asynchronous learning and address the acute need for distance learning opportunities. Over the first 7 weeks of production, 50 episodes were created. Episodes were posted on www.headmirror.com, with subscription services available through Apple Podcast, Spotify, and other platforms.

Cranial Base Manifestations of Granulomatosis with Polyangiitis.

OBJECTIVE: Although granulomatosis with polyangiitis (GPA; Wegener's granulomatosis) is classically characterized by systemic disease involving the kidneys and airway, approximately 10% of patients who have it present with isolated central nervous system disease. When involving the skull base, GPA frequently mimics more common pathology, resulting in diagnostic challenges and delay. The primary objective of this study is to characterize the cranial base manifestations of GPA, highlighting aspects most relevant to the skull base surgeon. STUDY DESIGN: Retrospective review. SETTING: Tertiary academic referral center. SUBJECTS AND METHODS: Retrospective analysis of all patients with skull base GPA treated at a tertiary referral center from January 1, 1996, to May 1, 2018. RESULTS: Twenty-nine patients met inclusion criteria. Twenty-one (72%) initially presented with skull base symptomatology as their cardinal manifestation of GPA. Twenty-four (82%) presented with cranial neuropathy at some point in their disease course. The trigeminal nerve was most commonly involved (12 of 24, 50%), followed by the facial (11 of 24, 46%) and optic (8 of 24, 33%) nerves. Eighteen patients reported hearing loss attributed to the GPA disease process, presenting as conductive, sensorineural, or mixed. The most common locations for GPA-derived inflammatory skull base disease on imaging included the cavernous sinus (12 of 29, 41%) and the orbit (7 of 29, 24%). CONCLUSION: Establishing the diagnosis of skull base GPA remains challenging. Cranial neuropathy is diverse in presentation and often mimics more common conditions. Imaging findings are also unpredictable and frequently nonspecific. Careful review of patient history, clinical presentation, serology and biopsy results, and imaging can reveal important clues toward the diagnosis.

Coordinated approach to spinal and tracheal reconstruction in a patient with morquio syndrome.

Morquio syndrome (Mucopolysaccharidosis IVA) is an autosomal recessive lysosomal storage disease with manifestations ranging from mild to severe phenotype. Mechanical spinal cord injury and airway insufficiency are major causes of mortality. A 17-year-old male patient with severe Morquio syndrome presented with cervical and upper thoracic spinal stenosis with spinal cord myelopathy, and progressive severe tracheal stenosis. Coordinated care among otolaryngology, orthopedic surgery, neurosurgery, anesthesiology, cardiovascular surgery, radiology, and pulmonology teams facilitated the successful planning and execution of two major surgical interventions in rapid succession. This is the first description of a successful coordinated spine and airway repair in the literature.

Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup.

Gardner syndrome describes a variant phenotype of familial adenomatous polyposis (FAP), primarily characterized by extracolonic lesions including osteomas, dental abnormalities, epidermal cysts, and soft tissue tumors. We describe a 2-yr-old boy presenting with a 2-cm soft tissue mass of the forehead. Pathologic evaluation revealed a nuchal-type/Gardner-associated fibroma. Sequencing of the APC gene revealed a pathologic variant c.4666dupA. Parental sequencing of both blood and buccal tissue supported the de novo occurrence of this pathologic variant. Further imaging revealed a number of additional lesions including a large lumbar paraspinal desmoid, a 1-cm palpable lesion posterior to the left knee, firm lesions on bilateral heels, and multiple subdermal lesions. Colonoscopy was negative. This case illustrates a genetic variant of Gardner syndrome resulting in an aggressive early childhood phenotype and highlights the need for an individualized approach to treatment.