Treatment-recalcitrant laryngeal sarcoidosis responsive to sirolimus.

A 15-year-old girl presented with gradual-onset dysphonia and dysphagia. Laryngoscopy revealed significant supraglottic airway obstruction with swelling of both the epiglottis and arytenoids. After emergency tracheostomy, biopsy of the epiglottis revealed lymphoid hyperplasia with focal non-necrotising granulomata, leading to a presumed diagnosis of laryngeal sarcoidosis. Treatment with prednisolone and methotrexate produced minimal clinical improvement. A switch to sirolimus was followed by significant reduction in the laryngeal swelling, allowing decannulation of the tracheostomy. Treatment with sirolimus should be considered as a steroid sparing agent in laryngeal sarcoidosis, particularly in the presence of lymphoid hyperplasia on biopsy.

Arthropathy of Down syndrome: an under-diagnosed inflammatory joint disease that warrants a name change.

There is an increased incidence and prevalence of arthropathy in children with Down syndrome. However, it is rarely reported or recognised at onset, and remains under-diagnosed. Children with arthropathy of Down syndrome (A-DS) are presenting with significant joint damage and disability at diagnosis. Objective: To identify undiagnosed cases of A-DS and document time to diagnosis. Also to describe clinical, laboratory and radiological features of A-DS at diagnosis. Methodology: Children with Down syndrome (DS) (0-21 years) were invited to attend a musculoskeletal screening clinic. A second physician at a further clinic confirmed suspected cases of A-DS. Investigations and treatment were instigated as per normal clinical practice for Juvenile idiopathic arthritis (JIA). Data on a convenience sample of 21 newly diagnosed children with JIA was collected to create a comparison group. Results: Over an 18-month period, 503 children with DS were screened for arthritis and 18 new cases diagnosed. In total, 33 children were identified with A-DS (combining cases attending pre-dating commencement of the study and those referred to our centre during the study period). This suggests prevalence of A-DS is 20/1000. A significant delay in diagnosis of A-DS was observed. The majority of children presented with polyarticular-rheumatoid factor-negative arthritis, with predominance in the small joints of the hands and wrists. Erosive changes were reported on X-ray in a significantly greater proportion (42%) of children with A-DS than JIA (14%). MRI was used to confirm diagnosis in four cases. Conclusion: Children with DS are at increased risk of arthritis. Future research to accurately define disease pathogenesis and identify a biomarker of disease would be of benefit.