Spot diagnosis case 11 – NOW OPEN 

Scenario: This patient complains of decreased hearing, episodes of dyspenea when lying down, and dysphonia.

Questions:

1) What is your diagnosis?
2) What type of analysis will confirm the diagnosis ?

Spot diagnosis case 10 is now closed.

Scenario: A 61 year old male, with a background of recurrent sialoadenitis is an ex-smoker, and presents to the emergency ENT clinic with increasing shortness of breath during exercise over the past weeks, soft stridor and dysphagia to solid food. There is no weight loss, no history of reflux, and no pain. A flexible nasendoscopy is performed and shows the following image of the larynx. Both vocal cords have limited mobility. Multiple biopsies are done, and show a mixture of fibrosis and active inflammation. Bloods are done as well. A PET-CT scan shows a PET avid mass in the supraglottis.

Questions:

1) What is your most likely diagnosis and differential diagnosis? – Answer: The patient in this case has Immunoglobulin G4-related disease (IgG4-RD). This is a chronic systemic immune-mediated condition characterised by a lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells. The condition was first described in 2003 in a cohort of Japanese patients with autoimmune pancreatitis, and has since been described in almost every organ, including the renal system. IgG4-RD now unites a variety of conditions previously thought to be unrelated. There is a male predominance (61%-80%) and most cases present between 50-70 years of age. Head and neck manifestations of IgG4-RD are common, mainly in salivary gland inflammation, but primary laryngeal involvement is extremely rare as only 17 cases of primary laryngeal IgG4-RD have been described in the literature. The condition may mimic a variety of malignant or inflammatory conditions, including vasculitis. 
2) What blood tests would you order? – Answer: The gold standard for the diagnosis of IgG4-RD is histopathology from a tissue biopsy, but several clinical, biochemical and radiographical findings are used as well. Blood tests should include IgG4 serum concentration, ANA, ANCA and anti-rheumatoid factor. Elevated serum IgG4 concentration is no longer considered essential for the diagnosis, since normal serum IgG4 concentrations have been well-described even in the setting of active, biopsy-proven disease. A set of classification criteria has been made by the American College of Rheumatology and European League Against Rheumatism (ACR/EULAR) to help clinicians diagnose. 
3) What treatment would you propose? – Answer: Medical management for IgG4-RD starts with steroids, and early response to steroids has been shown to be of prognostic significance. The mean maintenance dose of prednisolone is 5 mg/day, and it is used in the majority of cases to good effect. In severe systemic cases, Rituximab can be added. In the literature, 90% of cases have reported to go into remission with appropriate medical therapy, with an annual relapse rate of 11%. Most patients should recover good laryngeal function with immunomodulatory medication, but following medical disease control, individualised reconstructive techniques are often required to establish a satisfactory stable airway. The patient in this case underwent laser supraglottoplasty and balloondilation to good effect, alongside high dose steroid treatment for 6 weeks. A tracheostomy could be avoided. 

 

Spot diagnosis case 9 is now closed.

Scenario: This 56-year-old female with a history of COVID-19 pneumonitis and ICU admission visits the ENT outpatient clinic with a chronic cough and shortness of breath on exertion. Flexible laryngoscopy doesn’t show any abnormalities and there is normal vocal cord movement. There are some interesting findings on flexible tracheobronchoscopy.  

Questions:

1) What is the likely diagnosis? – Answer: tracheobronchopathia osteochondroplastica.
2) What evidence of previous treatment do you see? – Answer: A-frame narrowing airway related to previous tracheostomy. 

 

Spot diagnosis case 8 is now closed.

Scenario: This 65-year-old gentleman with a history of reflux disease presented with a sore throat, dysphonia and progressive shortness of breath over the past year.  He’s a never smoker. CT showed a mixed density mass in the subglottis with ‘popcorn’ calcifications and there is no invasion to adjacent soft tissue or bone. Pathology shows granular calcifications in multinucleated chondrocytes.

Questions:

1. What is the likely diagnosis? – Answer: low grade chondrosarcoma
2. What treatment would you recommend, and what are your considerations regarding treatment? – Answer: conservative if asymptomatic, endoscopic laser debulking if symptomatic, laryngectomy is reserved for large tumours in which surgery would cause destabilisation of the cricoid.