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Titolo:
Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies
Autore:
Zwirner, P; Wilichowski, E;
Indirizzi:
Univ Witten Herdecke, Vest Kinderklin, Inst Phoniatrie & Padaudiol, D-45711 Datteln, Germany Univ Witten Herdecke Datteln Germany D-45711 l, D-45711 Datteln, Germany Univ Gottingen, Dept Pediat & Neuropediat, D-3400 Gottingen, Germany Univ Gottingen Gottingen Germany D-3400 ediat, D-3400 Gottingen, Germany
Titolo Testata:
LARYNGOSCOPE
fascicolo: 3, volume: 111, anno: 2001,
pagine: 515 - 521
SICI:
0023-852X(200103)111:3<515:PSHLIC>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
KEARNS-SAYRE-SYNDROME; MYOCLONUS EPILEPSY; POINT MUTATION; DNA; DELETIONS; DEFECTS;
Keywords:
mitochondrial disorder; Kearns-Sayre syndrome; syndrome of MELAS; respiratory chain; hearing loss;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Zwirner, P Univ Witten Herdecke, Vest Kinderklin, Inst Phoniatrie & Padaudiol, Dr Friedrich Steiner Str 5, D-45711 Datteln, Germany Univ Witten Herdecke Dr Friedrich Steiner Str 5 Datteln Germany D-45711
Citazione:
P. Zwirner e E. Wilichowski, "Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies", LARYNGOSCOP, 111(3), 2001, pp. 515-521

Abstract

Objective: Mitochondrial disorders are responsible for a variety of neurological syndromes. Specific mitochondrial DNA mutations have been identifiedrecently in some of these rare disorders. Clinical symptoms may occur in different organs to various extent; often they are associated with progressive hearing loss. The aims of this study were to determine incidence, onset,and characteristics of hearing loss in children with mitochondrial encephalomyopathies and to investigate a possible correlation between the degree of hearing loss and neurological symptoms. In addition, we investigated the prognostic value of hearing loss as a predictor of the disease. Study Design: From August 1992 to September 1998, 29 patients ranging in age from 5 to23 years (mean years) were studied. These children were hospitalized for diagnostic purposes in the neuropediatric department. Methods: The mitochondrial disorder was diagnosed by clinical and laboratory testings, including analysis of the mtDNA Audiological evaluation consisted of measurements of pure-tone and speech audiometry, tympanometry, and acoustic reflex threshold testing, auditory brainstem response, and evoked as well as distortion-product otoacoustic emissions. Results: A sensorineural hearing loss was identified in 12 children. Three of these were diagnosed as having classic Kearns-Sayre syndrome; five as having multisystem KSS; two as having the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS); one as having KSS-MELAS overlap syndrome; and one as having Friedreich ataxia. Longitudinal testing was performed in seven children, and in all of them a progression of the hearing loss could be demonstrated. Audiological test results in all 12 children suggested cochlear as well as retrocochlear origin of the hearing loss presenting independently from the severity of hearing impairment. No correlation between the characteristics and degrees of hearing loss and the number and severity of clinical neurological symptoms could be found. Conclusions: The present study demonstrated a high incidence (42%) of sensorineural hearing loss in children withmitochondrial encephalomyopathies. The progressive nature of the hearing impairment was confirmed by a significant correlation between the duration in years and severity of hearing loss in the children. The hearing loss doesnot have a prognostic value for the progression of the disorder. Based on our findings, we recommend regular audiometric examinations in patients with mitochondrial disorders.

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Documento generato il 12/07/20 alle ore 09:45:07