These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Middle-ear involvement in type I Gaucher's disease - a unique case.
    Author: Khan A, Stimpson P, Karmolinski A, Patel N.
    Journal: J Laryngol Otol; 2013 Dec; 127(12):1226-9. PubMed ID: 24300021.
    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. CASE REPORT: 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. INTERVENTION: Exploratory Tympanomastoidectomy revealed inflammatory material filling the mastoid and the middle ear. Histological analysis confirmed Gaucher cell infiltrates. CONCLUSION: 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.
    [Abstract] [Full Text] [Related] [New Search]