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Middle-ear involvement in type I Gaucher's disease - a unique case
A Khan1, P Stimpson1, A Karmolinski2
1ENT Department, Whipps Cross University Hospital, London, UK.
The Journal of Laryngology and Otology
|December 5, 2013
Summary
Gaucher's disease, a rare lysosomal storage disorder, can affect the middle ear, causing hearing loss. This case report details a child with Gaucher's disease experiencing bilateral hearing impairment due to middle ear involvement.
Area of Science:
- Otorhinolaryngology
- Genetics
- Pediatrics
Background:
- Gaucher's disease is an autosomal recessive lysosomal storage disorder.
- Lysosomal storage diseases can manifest with diverse systemic complications.
Observation:
- A five-year-old boy with diagnosed Gaucher's disease presented with bilateral hearing impairment.
- Audiometry revealed conductive hearing loss, and tympanometry showed flat traces.
Findings:
- Exploratory tympanomastoidectomy identified inflammatory material within the middle ear and mastoid.
- Histological examination confirmed the presence of Gaucher cell infiltrates in the affected tissues.
Implications:
- This is the first documented case of middle ear and mastoid involvement in Gaucher's disease in English literature.
- Understanding this manifestation is crucial for early diagnosis and management of hearing loss in Gaucher's disease patients.
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