Hostname: page-component-6766d58669-vgfm9 Total loading time: 0 Render date: 2026-05-21T07:40:57.328Z Has data issue: false hasContentIssue false
  • English
  • Français

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
Get access Rights & Permissions [Opens in a new window]

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

Information

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

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Article purchase

Temporarily unavailable

References

1Zimran, A. How I treat Gaucher disease. Blood 2011;118:1463–71CrossRefGoogle Scholar
2Deegan, P, Cox, TM. Imiglucerase in the treatment of Gaucher disease: a history and perspective. Drug Des Devel Ther 2012;6:81–106Google ScholarPubMed
3Biegstraaten, M, van Schaik, IN, Aerts, JM, Hollack, CE. ‘Non-neuronopathic’ Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature. J Inherit Metab Dis 2008;31:337–49CrossRefGoogle Scholar
4Kaga, K, Ono, M, Yakumaru, K, Owada, M, Mizutani, T. Brainstem pathology of infantile Gaucher's disease with only wave I and II of auditory brainstem response. J Laryngol Otol 1998;112:1069–73CrossRefGoogle ScholarPubMed
5Uyama, E, Takahashi, K, Owada, M, Okamura, R, Naito, M, Tsuji, S et al. Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells. Acta Neurol Scand 1992;86:407–20CrossRefGoogle Scholar
6Bamiou, DE, Campbell, P, Liasis, A, Page, J, Sirimanna, T, Boyd, S et al. Audiometric abnormalities in children with Gaucher disease type 3. Neuropediatrics 2001;32:136–41CrossRefGoogle ScholarPubMed
7Brunner, H. On the occurrence of Gaucher cells in the petrous bone with remarks on the causal genesis of otosclerosis. Austrian Otological Society, Proceedings of meeting held on 28 May 1928. J Laryngol Otol 1929;44:45–9Google Scholar
8Campbell, PE, Harris, CM, Sirimanna, T, Vellodi, A. A model of neuronopathic Gaucher disease. J Inherit Metab Dis 2003;26:629–39CrossRefGoogle Scholar
9Mikosch, P, Hughes, D. An overview on bone manifestations in Gaucher disease. Wien Med Wochenschr 2010;160:609–24CrossRefGoogle Scholar
10Hughes, DA, Pastores, GM. The pathophysiology of GD – current understanding and rationale for existing and emerging therapeutic approaches. Wien Med Wochenschr 2010;160:594–9CrossRefGoogle ScholarPubMed
11Hůlková, H, Ledvinová, J, Poupetová, H, Kohout, A, Malinová, V, Elleder, M. Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process. J Inherit Metab Dis 2009;32:551–9CrossRefGoogle Scholar