Otologic and audiologic manifestations of hutchinson‐gilford progeria syndrome
- 6 September 2011
- journal article
- pediatric ears
- Published by Wiley in The Laryngoscope
- Vol. 121 (10), 2250-2255
- https://doi.org/10.1002/lary.22151
Abstract
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.Keywords
This publication has 25 references indexed in Scilit:
- Cardiovascular Pathology in Hutchinson-Gilford Progeria: Correlation With the Vascular Pathology of AgingArteriosclerosis, Thrombosis, and Vascular Biology, 2010
- Earwax, osmidrosis, and breast cancer: why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type?The FASEB Journal, 2009
- Phenotype and Course of Hutchinson–Gilford Progeria SyndromeNew England Journal of Medicine, 2008
- Disease Progression in Hutchinson-Gilford Progeria Syndrome: Impact on Growth and DevelopmentPublished by American Academy of Pediatrics (AAP) ,2007
- Hutchinson–Gilford progeria syndrome: Review of the phenotypeAmerican Journal of Medical Genetics Part A, 2006
- Association between osteoporosis and otosclerosis in womenThe Journal of Laryngology & Otology, 2004
- Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndromeNature, 2003
- Speech Recognition in Noise by Children with Minimal Degrees of Sensorineural Hearing lossEar & Hearing, 1993
- Screening Tympanometry: Criteria for Medical ReferralInternational Journal of Audiology, 1987
- The Hutchinson-Gilford progeria syndromeThe Journal of Pediatrics, 1972