A rare differential for sinusitis and visual loss.
Erdheim-Chester disease is a rare infiltrative histiocytic disorder with around 800 cases being reported worldwide. Patients most commonly present with skeletal pain, but the condition has been shown to affect multiple other organs. We describe a rare presentation in which the disease infiltrated the sinuses and affected an ex-RAF pilot's vision. After extensive investigation of the elusive diagnosis, repeating of a molecular test using polymerase chain reaction analysis allowed for identification of a mutation (BRAF V600) ultimately leading to the diagnosis of Erdheim-Chester disease.
['Lee|J D E|JDE|', 'Gill|C|C|', 'Muzaffar|J|J|', 'Ahmed|S|S|', 'Amel-Kashipaz|R|R|']
D001766:Blindness D004252:DNA Mutational Analysis D003937:Diagnosis, Differential D031249:Erdheim-Chester Disease D005004:Ethmoid Bone D005938:Glucocorticoids D006801:Humans D008297:Male D008875:Middle Aged D010027:Osteotomy D000070356:Pilots D048493:Proto-Oncogene Proteins B-raf D012852:Sinusitis D013100:Sphenoid Bone D014057:Tomography, X-Ray Computed
Erdheim–Chester disease Otolaryngology Vision and hearing loss