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Congenital cholesteatoma in siblings

Published online by Cambridge University Press:  29 October 2013

L D Landegger  and
M S Cohen
L D Landegger
Affiliation:
Department of Otology and Laryngology, Medical University of Vienna, Austria
M S Cohen*
Affiliation:
Department of Otology and Laryngology, Harvard Medical School, Boston, USA
*
Address for correspondence: Dr M S Cohen, Division of Pediatric Otolaryngology, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, Massachussetts, USA, 02114 Fax: +1 617 573 6845 E-mail: michael_cohen@meei.harvard.edu
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Abstract

Introduction:

The exact aetiology of congenital cholesteatoma, the less common form of this destructive disease, is still under debate.

Case report:

A two-year-old boy was referred to paediatric otolaryngology with persistent, bloody, left-sided otorrhoea refractory to oral and ototopical antibiotics. Prior to its onset at age 16 months, all ear examinations on the affected side were normal. Physical examination, imaging with computed tomography and eventual tympanomastoidectomy revealed extensive cholesteatoma. The extent of the disease, age at onset of symptoms and absence of otological disease before initial presentation suggested the diagnosis of congenital cholesteatoma. Review of the family history revealed that the patient's older brother had undergone tympanomastoidectomy for a small, well-encapsulated, mesotympanic congenital cholesteatoma at two years of age.

Discussion:

This case joins a single, previous report describing congenital cholesteatoma in multiple family members, suggesting that in some cases, hereditary factors may play a role in the formation of the disease.

Keywords

CholesteatomaPediatricsHeredity
Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 127 , Issue 11 , November 2013 , pp. 1143 - 1144
Copyright
Copyright © JLO (1984) Limited 2013 

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