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Indexed/Abstracted in: EMBASE, Scopus
Online ISSN 1827-188X
Martines F. 1, Di Franco G. 1, Maggio O. 1, Martines M. 1, Caronia A. 2, Sarno C. 2, Martines E. 1
1 Sezione di Audiologia Dipartimento di Biotecnologie Mediche e Medicina Legale Universistà degli Studi di Palermo, Palermo
2 Sezione di Diagnostica per Immagini Dipartimento di Biotecnologie Mediche e Medicina Legale Università degli Studi di Palermo, Palermo
Aim. The large vestibular aqueduct syndrome (LVAS) may be defined as a progressive loss of sensorineural hearing associated with an isolated anatomic malformation of the inner ear. The malformation may consist of a monolateral but more often of a bilateral dilatation of the vestibular aqueduct that is radiologically detectable and greater than 1.5 mm in anteroposterior diameter. This anatomic anomaly is often associated with a coexisting dilatation of the semicircular canals and/or the inner auditory ducts and/or cochlear malformation. Rarely, the syndrome is associated with thyroid disorders (Pendred syndrome) or renal anomalies (brachio-oto-renal syndrome). This study describes 10 cases of LVAS and compares the results with those from the literature.
Methods. Ten patients (6 males, 4 females) underwent thorough clinical (family medical history, physical examination, past and recent medical history) and diagnostic examination (audiometric and acoustic impedance testing, acoustic provoked potentials, computed tomography [CT], magnetic resonance imaging [MRI]).
Results. In all patients the onset of the hearing loss was determined at the 1st audiometric examination. In 5 patients the diagnosis of isolated bilateral LVAS was confirmed on CT and/or MRI. In the other 5 patients with bilateral LVAS, other anomalies of the inner ear were also present.
Conclusion. The analysis of the results did not show any relation between the radiologic features of the malformation and the hearing loss characteristics. The presence of 2 brothers and 2 sisters in the study group, all 4 with healthy parents, appears to confirm the hypothesis for recessive transmission of the disorder.