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Middle-ear involvement in type I Gaucher's disease – a unique case

Published online by Cambridge University Press:  03 December 2013

A Khan ,
P Stimpson ,
A Karmolinski  and
N Patel
A Khan
Affiliation:
ENT Department, Whipps Cross University Hospital, London, UK
P Stimpson
Affiliation:
ENT Department, Whipps Cross University Hospital, London, UK
A Karmolinski
Affiliation:
Histopathology Department, Whipps Cross University Hospital, London, UK
N Patel*
Affiliation:
ENT Department, Whipps Cross University Hospital, London, UK
*
Address for correspondence: Mr N Patel, ENT Department, Whipps Cross University Hospital, Whipps Cross Road, Leytonstone, London E11 1NR, UK E-mail: nitesh.patel@nhs.net
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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.

Keywords

Gaucher DiseaseMiddle EarHearing Loss
Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 127 , Issue 12 , December 2013 , pp. 1226 - 1229
Copyright
Copyright © JLO (1984) Limited 2013 

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