title: Middle-ear involvement in type I Gaucher's disease - a unique case.
abstract: OBJECTIVE
  Gaucher's disease is a rare autosomal recessive lysosomal storage disease. We describe a unique case of middle-ear involvement presenting with hearing loss.
  
  
  METHODS
  A five-year-old boy with known Gaucher's disease presented with bilateral hearing impairment and conductive hearing loss on pure tone audiometry with flat tympanometry traces.
  
  
  METHODS
  Exploratory Tympanomastoidectomy revealed inflammatory material filling the mastoid and the middle ear. Histological analysis confirmed Gaucher cell infiltrates.
  
  
  CONCLUSIONS
  This is the first detailed report in the english language literature of Gaucher's disease affecting the middle ear and the mastoid. We discuss the disease process and suggest future management options.
authors.affiliation: ENT Department, Whipps Cross University Hospital, London, UK.
authors.forename: A
authors.initials: A
authors.lastname: Khan
authors.affiliation: ENT Department, Whipps Cross University Hospital, London, UK.
authors.forename: P
authors.initials: P
authors.lastname: Stimpson
authors.affiliation: Histopathology Department, Whipps Cross University Hospital, London, UK.
authors.forename: A
authors.initials: A
authors.lastname: Karmolinski
authors.affiliation: ENT Department, Whipps Cross University Hospital, London, UK.
authors.forename: N
authors.initials: N
authors.lastname: Patel
mesh_terms: D000158:Acoustic Impedance Tests; D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D001301:Audiometry, Pure-Tone; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004359:Drug Therapy, Combination; D005158:Facial Paralysis / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology*; D005776:Gaucher Disease / Q000150:complications* / Q000175:diagnosis; D005938:Glucocorticoids / Q000627:therapeutic use; D006314:Hearing Loss, Conductive / Q000209:etiology*; D006801:Humans; D008297:Male; D008416:Mastoid / Q000473:pathology; D010034:Otitis Media with Effusion / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy / Q000601:surgery; D013506:Otologic Surgical Procedures / Q000379:methods; D035583:Rare Diseases; D016896:Treatment Outcome
chemical_list: D000900:Anti-Bacterial Agents; D005938:Glucocorticoids