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Introduction
Amyloidosis is an idiopathic disorder characterised by the extracellular deposition of non-soluble fibrillar proteins (amyloid) that deposit in organs and tissues, which can cause organ failure and death.1,2It may manifest as systemic disease or be localised to certain organs, most commonly the kidney, heart and liver (in order of decreasing incidence).3
Amyloidosis is a very rare disease with an incidence approaching 5-10 per million per year, with up to 20 per cent of cases involving the head and neck.1,4The larynx is the most common site of amyloid deposition in the head and neck, representing 0.2-1.2 per cent of all benign laryngeal tumours, and is rarely associated with systemic amyloidosis.5,6It is typically primary; it is occasionally associated with a plasma cell dyscrasia and very rarely systemic disease.6Amyloidosis primarily affects those aged 40-60 years, with a peak incidence in the fifth decade of life. It is more prevalent in males, with a 3:1 male:female ratio.7It rarely presents during childhood; only 10 cases have been reported in the literature, with the youngest being an 8-year-old female.8-14
Symptoms are dependent on size and specific location of the deposit. Symptoms may include dysphonia, stridor, dysphagia or exertional dyspnoea.15The 'gold standard' methods for diagnosis are laryngoscopy and tissue biopsy. Amyloidosis presents as subepithelial extracellular deposits of acellular, amorphous, eosinophilic material within the stroma on haematoxylin and eosin stain. Diagnosis is confirmed with Congo red stain positive for amyloid with apple-green birefringence when viewed with polarisation microscopy.1
This paper aims to highlight the diversity of presentations, increase awareness of paediatric amyloidosis and update the reader on current management.
Case series
See Table I for patient demographics, disease locations, symptoms, investigations, treatments and outcomes.
Table I
Case series patient summary
| Parameter | Case 1 | Case 2 | Case 3 | Case 4 | Case 5 |
| Age (years) | 75 | 42 | 31 | 57 | 9 |
| Sex | Female | Female | Female | Female | Male |
| Disease location | Right VF | Left arytenoid | Bi-level subglottic stenosis | Left FC | Left FC |
| Symptoms | Dysphonia | Incidental finding on upper GI endoscopy | Dysphonia, exertional dyspnoea, biphasic stridor | Dysphonia, vocal fatigue | Dysphonia, exertional dyspnoea, stridor |
| Systemic disease? | No | No | No | No | No |
| CT findings | ￂ |