Document Detail


Otologic and audiologic manifestations of Hutchinson-Gilford progeria syndrome.
MedLine Citation:
PMID:  21898437     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVES/HYPOTHESIS: To define the audiologic and otologic phenotype of Hutchinson-Gilford progeria syndrome (HGPS).
STUDY DESIGN: Prospective case series.
METHODS: Fifteen patients with HGPS were enrolled in a prospective natural history study; 14 were evaluated in the neurotology clinic, and 11 received audiologic evaluations. The physical exam and audiologic findings of these patients were reviewed to define an otologic and audiologic phenotype for HGPS in the largest series of subjects in the literature.
RESULTS: All patients were noted to have stiff auricular cartilages, small or absent lobules, and hypoplasia of the lateral soft-tissue portion of the external ear canal leading to a shortened canal. Ten of 14 patients (71%) had dry cerumen impaction, and four of 14 patients (29%) reported a history of recurrent otitis media. Nineteen of 22 ears (86.4%) demonstrated low-frequency conductive hearing loss in the 250 to 500 Hz range. Sixteen of 22 ears (73%) had type A tympanograms; three of 22 ears (14%) displayed bimodal or "W" peaked tympanograms; two of 22 ears (9%) had type B tympanograms; one of 22 ears (4%) had a type C tympanogram. Nine of 10 patients had distortion product otoacoustic emissions consistent with normal peripheral hearing sensitivity.
CONCLUSIONS: HGPS is caused by a mutation in the LMNA gene resulting in the production of an abnormal nuclear protein; this in turn affects nuclear structure and function. Patients with HGPS have characteristic otologic features due to cartilaginous and subcutaneous tissue abnormalities and typically demonstrate low-frequency conductive hearing loss despite largely normal tympanometry. It is important to be aware of these conditions in managing these patients.
Authors:
Elizabeth Guardiani; Christopher Zalewski; Carmen Brewer; Melissa Merideth; Wendy Introne; Ann C M Smith; Leslie Gordon; William Gahl; H Jeffrey Kim
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural     Date:  2011-09-06
Journal Detail:
Title:  The Laryngoscope     Volume:  121     ISSN:  1531-4995     ISO Abbreviation:  Laryngoscope     Publication Date:  2011 Oct 
Date Detail:
Created Date:  2011-09-28     Completed Date:  2011-11-15     Revised Date:  2013-06-27    
Medline Journal Info:
Nlm Unique ID:  8607378     Medline TA:  Laryngoscope     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2250-5     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 The American Laryngological, Rhinological, and Otological Society, Inc.
Affiliation:
Georgetown University Hospital Department of Otolaryngology-Head and Neck Surgery, Washington, DC, USA.
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MeSH Terms
Descriptor/Qualifier:
Acoustic Impedance Tests / methods*
Audiometry, Pure-Tone / methods
Child
Child, Preschool
Cohort Studies
Female
Follow-Up Studies
Hearing Loss, Conductive / diagnosis*,  epidemiology
Humans
Incidence
Infant
Male
Monitoring, Physiologic
Otoacoustic Emissions, Spontaneous / physiology*
Progeria / diagnosis*
Prospective Studies
Risk Assessment
Grant Support
ID/Acronym/Agency:
Z99 HG999999/HG/NHGRI NIH HHS
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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