Pediatric Ears
Enlarged vestibular aqueduct: Review of controversial aspects†‡
Quinton Gopen MD,
Guangwei Zhou MD, ScD,
Kenneth Whittemore MD,
Margaret Kenna MD, MPH,
Corresponding Author
Quinton Gopen MD
Division of Head and Neck Surgery, U.C.L.A. Medical Center, Los Angeles, California, U.S.A.
Division of Head and Neck Surgery, U.C.L.A. Medical Center, 200 Medical Plaza, Suite 550, Los Angeles, CA 90095Search for more papers by this authorGuangwei Zhou MD, ScD
Department of Otolaryngology and Communication Enhancement, Children's Hospital Boston, Harvard Medical School, Boston, Masschausetts, U.S.A.
Search for more papers by this authorKenneth Whittemore MD
Department of Otolaryngology and Communication Enhancement, Children's Hospital Boston, Harvard Medical School, Boston, Masschausetts, U.S.A.
Search for more papers by this authorMargaret Kenna MD, MPH
Department of Otolaryngology and Communication Enhancement, Children's Hospital Boston, Harvard Medical School, Boston, Masschausetts, U.S.A.
Search for more papers by this authorQuinton Gopen MD,
Guangwei Zhou MD, ScD,
Kenneth Whittemore MD,
Margaret Kenna MD, MPH,
Corresponding Author
Quinton Gopen MD
Division of Head and Neck Surgery, U.C.L.A. Medical Center, Los Angeles, California, U.S.A.
Division of Head and Neck Surgery, U.C.L.A. Medical Center, 200 Medical Plaza, Suite 550, Los Angeles, CA 90095Search for more papers by this authorGuangwei Zhou MD, ScD
Department of Otolaryngology and Communication Enhancement, Children's Hospital Boston, Harvard Medical School, Boston, Masschausetts, U.S.A.
Search for more papers by this authorKenneth Whittemore MD
Department of Otolaryngology and Communication Enhancement, Children's Hospital Boston, Harvard Medical School, Boston, Masschausetts, U.S.A.
Search for more papers by this authorMargaret Kenna MD, MPH
Department of Otolaryngology and Communication Enhancement, Children's Hospital Boston, Harvard Medical School, Boston, Masschausetts, U.S.A.
Search for more papers by this author†
The authors have no financial disclosures for this article.
‡
The authors have no conflicts of interest to disclose.
Abstract
Objectives:
To review the controversial aspects of the enlarged vestibular aqueduct syndrome.
Study Design:
Contemporary review.
Methods:
A literature search using the terms “enlarged vestibular aqueduct and large vestibular aqueduct” were used to generate the articles for review in this article.
Results:
The enlarged vestibular aqueduct is a condition causing variable auditory and vestibular dysfunction. Although it has been 32 years since Valvasorri and Clemis recognized the clinical importance of the enlarged vestibular aqueduct, many controversial aspects of the diagnosis remain. The topics reviewed in this discussion are as follows: size criteria for radiographic diagnosis, precipitating factors for hearing loss, corticosteroid treatment and sac surgery, conductive component to hearing loss, natural progression of hearing loss, correlations between aqueduct size and hearing loss, genetics, vestibular symptoms, and theories regarding mechanisms behind the symptoms.
Conclusion:
The enlarged vestibular aqueduct remains a controversial entity with variable presentation, progression, and prognosis.
BIBLIOGRAPHY
- 1 Mondini C. Anatomica surdi nati sectio. De Bononiensi Scientarium et Artium Instituto atque Academia Commenarii. Banoniae 1791: 7: 419.
- 2
Valvassori G,
Naunton R,
Lindsay J.
Inner ear anomalies: clinical and histopathological considerations.
Ann Otol Rhinol Laryngol
1989;
78:
929–938.
10.1177/000348946907800502 Google Scholar
- 3 Valvasori G, Clemis J. The large vestibular aqueduct syndrome. Laryngoscope 1978; 88: 723–728.
- 4 Zalzal G, Sharon T, Vezina L, Bjornsti P, Grundfast K. Enlarged vestibular aqueduct and sensorineural hearing loss in childhood. Arch Otolaryngol Head Neck Surg 1995; 121: 23–28.
- 5 Karet F, Finberg K, Nelson R, et al. Mutations in the gene encoding B1 subunit of H+ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet 1999; 21: 84–90.
- 6 Berrettini S, Forli F, Fausto B. Large vestibular aqueduct syndrome: audiological, radiological, clinical and genetic features. Am J Otolaryngol 2005; 26: 363–371.
- 7 Madden C, Halsted M, Benton C, Greinwald J, Choo D. Enlarged vestibular aqueduct syndrome in the pediatric population. Otol Neurotol 2003; 24: 625–632.
- 8 Talbot J, Wilson D. Computed tomographic diagnosis of X-linked congenital mixed deafness, fixation of the stapedial footplate and perilymphatic gusher. Am J Otol 1994; 15: 177–182.
- 9 Arellano B, Pera A, Ramirez-Camacho R, et al. Pendred's syndrome and non-syndromic DFNB4 deafness associated with the homozygous T410M mutation in the SLC26A4 gene in siblings. Clin Gen 2005; 67: 438–440.
- 10 Ceruti S, Stinckens C, Cremers C, Casselman J. Temporal bone anomalies in the BOR syndrome: detailed computed tomographic and magnetic resonance imaging findings. Otol Neurotol 2003; 23: 200–207.
- 11 Stinckens C, Standaert L, Casselman J, Huygen P, Kumar S, Van de Wallen J, Cremers C. The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the Branchio-Oto-Renal syndrome. A family study. Int J Pediatr Otolaryngol 2001; 29: 163–172.
- 12 Megarbane A, Chouery E, Rassi S, Delague V. A new autosomal recessive oto-facial syndrome with midline malformations. Am J Med Genet 2005; 123: 398–401.
- 13 Miura M, Sando I, Orita Y, Hirsch B. Temporal bone histopathological study of Noonan syndrome. Int J Pediatr Otorhinolaryngol 2001; 60: 73–82.
- 14 Gonzalez-Garcia J, Ibanez A, Ramirez Camacho R, Rodriguez A, Garcia Berrocal J, Trinidad A. Enlarged vestiubular aqueduct: looking for genotypic–phenotypic correlations. Eur Arch Otorhinolaryngol 2006; 263: 971–976.
- 15 Jackler R, De La Cruz A. The large vestibular aqueduct syndrome. Laryngoscope 1989; 99: 1238–1243.
- 16 Arcand P, Desrosiers M, Dube J, Abela A. The large vestibular aqueduct syndrome and sensorineural hearing loss in the pediatric population. J Otolaryngol 1991; 20: 247–250.
- 17 Levenson M, Parisier S, Jacobs M, Edelstein D. The large vestibular aqueduct syndrome in chilren. Arch Otolaryngol Head Neck Surg 1989; 115: 54–58.
- 18 Okumura T, Takahashi H, Honjo I, Takagi A, Mitamura K. Sensorineural hearing loss in patients with large vestibular aqueduct. Laryngoscope 1995; 105: 289–294.
- 19 Wilson D, Hodgson R, Talbot J. Endolymphatic sac obliteration for large vestibular aqueduct syndrome. Am J Otol 1997; 18: 101–106.
- 20 Madden C, Halsted M, Meinzen-Derr J. The influence of mutations in the SLC26A4 gene on temporal bone in a population with enlarged vestibular aqueduct. Arch Otolaryngol Head Neck Surg 2007; 133: 162–168.
- 21 Dewan K, Wippold F, Lieu J. Enlarged vestibular aqueduct in pediatric sensorineural hearing loss. Otolaryngol Head Neck Surg 2009; 140: 552–558.
- 22 Vijayasekaran S, Halsted M, Boston M, Meinzen-Derr J, Bardo D, Greinwald J, Benton C. When is the vestibular aqueduct enlarged? A statistical analysis of the normative distribution of vestibular aqueduct size. AJNR 2007; 28: 1133–1138.
- 23 Harker L, Vanderheiden S, Veazey D, Gentile N, McCleary E. Multichannel cochlear implantation in children with large vestibular aqueduct syndrome. Ann Otol Rhinol Laryngol 1999; 108: 39–43.
- 24 Dahlen R, Harnsberger R, Gray S, Shelton C, Allen R, Parkin J, Scalzo D. Overlapping thin-section fast spin-echo MR of the large vestibular aqueduct syndrome. AJNR 1997; 18: 67–75.
- 25 Antonelli P, Nall A, Lemmerling M, Mancuso A, Kubilis P. Hearing loss with cochlear modiolar defects and large vestibular aqueducts. Am J Otol 1998; 19: 306–312.
- 26 Govaerts P, Casselman J, Daemers K, De Ceulaer G, Somers T, Offeciers F. Audiological findings in large vestibular aqueduct syndrome. Int J Pediatr Otorhinolaryngol 1999; 51: 157–164.
- 27 Mamikoglu B, Bentz B, Wiet R. Large vestibular aqueduct syndrome presenting with mixed hearing loss and an intact mobile ossicular chain. Otorhinolaryngologia 2000; 10: 204–206.
- 28 Lin C, Lin S, Kao C, Wu J. The remediation of hearing deterioration in children with large vestibular aqueduct syndrome. Auris Nasus Larynx 2005; 32: 99–105.
- 29 Colvin I, Beale T, Harrop-Griffiths H. Long-term follow-up of hearing loss in children and young adults with enlarged vestibular aqueducts: relationship to radiologic findings and pendred syndrome diagnosis. Laryngoscope 2006; 116: 2027–2036.
- 30 Steinbach S, Brockmeier S, Kiefer B. The large vestibular aqueduct—case report and review of the literature. Acta Otolaryngol 2006; 126: 788–795.
- 31 Grimmer J, Hedlund G, Park A. Steroid treatment of hearing loss in enlarged vestibular aqueduct anomaly. Int J Pediatr Otorhinolaryngol 2008; 72: 1711–1715.
- 32 Ma X, Yang Y, Xia M, Li D, Xu A. Computed tomography findings in large vestibular aqueduct syndrome. Acta Otolaryngol 2009; 139: 700–708.
- 33 Atkin J, Grimmer J, Hedlund G, Park A. Cochlear abnormalities associated with enlarged vestibular aqueduct anomaly. Int J Pediatr Otorhinolaryngol 2009; 73: 1682–1685.
- 34 Nowak K, Messner A. Isolated large vestibular aqueduct syndrome in a family. Ann Otol Rhinol Laryngol 2000; 109: 40–44.
- 35 Sato E, Nakashima T, Lilly D, et al. Tympanometric findings in patients with enlarged vestibular aqueducts. Laryngoscope 2002; 112: 1642–1646.
- 36 Nakashima T, Ueda H, Furuhashi A, Sato E, Asahi K, Naganawa S, Beppu R. Air bone gap and resonant frequency in large vestibular aqueduct syndrome. Am J Otol 2000; 21: 671–674.
- 37 Zhou G, Gopen Q, Kenna M. Delineating the hearing loss in children with enlarged vestibular aqueduct. Laryngoscope 2008; 118: 2062–2066.
- 38 Valvassori G. The large vestibular aqueduct and associated anomalies of the iner ear. Otolaryngol Clin North Am 1983; 16: 95–101.
- 39 Emmet J. Large vestibular aqueduct syndrome. Am J Otol 1985; 6: 387–415.
- 40 Lai C, Shiao A. Chronological changes of hearing in pediatric patients with large vestibular aqueduct syndrome. Laryngoscope 2004; 114: 832–838.
- 41 Arjmand E, Webber A. Audiometric findings in children with a large vestibular aqueduct. Arch Otolaryngol Head Neck Surg 2004; 130: 1169–1174.
- 42 Reyes S, Wang G, Ouyang X. Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. Otolaryngol Head Neck Surg 2009; 141: 502–508.
- 43 King K, Choi B, Zalewski C, et al. SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct. Laryngoscope 2010; 120: 384–389.
- 44 Jeyakumar A, Francis D, Doerr T. Treatment of idiopathic sudden sensorineural hearing loss. Acta Otolaryngol 2006; 126: 709–713.
- 45 Chen C, Halpin C, Rauch S. Oral steroid treatment of sudden sensorineural hearing loss: a ten year retrospective analysis. Otol Neurotol 2003; 24: 728–733.
- 46 Welling C, Slater P, Martyn M, et al. Sensorineural hearing loss after occlusion of the enlarged vestibular aqueduct. Am J Otol 1999; 20: 338–343.
- 47 Grimmer J, Hedlund G. Vestibular symptoms in children with enlarged vestibular aqueduct anomaly. Int J Pediatr Otorhinolaryngol 2007; 71: 275–282.
- 48 Pryor S, Madeo A, Reynolds C, et al. SLC26A4/PDS genotype–phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet 2005; 42: 159–165.
- 49 Lemmerling M, Mancuso A, Antonelli P, Kubilis P. Normal modiolus: CT appearance in patients with a large vestibular aqueduct. Radiology 1997; 204: 213–219.
- 50 Naganawa S, Koshikawa T, Iwayama E, et al. MR imaging of the enlarged endolymphatic duct and sac syndrome by use of a 3D fast asymmetric spin-echo sequence: volume and signal intensity measurement of the endolymphatic duct and sac and area measurement of the cochlear modiolus. AJNR 2000; 21: 1664–1669.
- 51
Pendred V.
Deaf-mutism and goitre.
Lancet
1896;
2:
532.
10.1016/S0140-6736(01)74403-0 Google Scholar
- 52 Brain W. Heredity in simple goitre. QJ Med 1927. 20: 303–319.
- 53 Fraser G, Morgans M, Trotter W. The syndrome of sporadic goitre and congenital deafness. QJ Med 1960; 29: 279–295.
- 54 Sheffield V, Kraiem Z, Beck J, et al. Pendred syndrome maps to chromosome 7q21–34 and is caused by an intrinsic defect in thyroid iodine organification. Nat Genet 1996; 12: 424–426.
- 55 Gausden E, Coyle B, Armour J, et al. Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage. J Med Genet 1997; 34: 126–129.
- 56 Coucke P, Van Camp G, Demirhan O, et al. The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q. Genomics 1997; 40: 48–54.
- 57 Everett L, Glaser B, Beck J, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997; 17: 411–422.
- 58
Abe S,
Usami S,
Hoover D, et al.
Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene.
Am J Med Genet
1999;
82:
322–328.
10.1002/(SICI)1096-8628(19990212)82:4<322::AID-AJMG9>3.0.CO;2-0 CAS PubMed Web of Science® Google Scholar
- 59 Usami S, Abe S, Weston M, et al. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet 1999; 104: 188–192.
- 60 Albert S, Blons H, Jonard L, et al. SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet 2006; 114: 773–779.
- 61 Jonard L, Niasme-Grare M, Bonnet C, et al. Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct. Int J Pediatr Otorhinolaryngol 2010; 74: 1049–1053.
- 62 Hill J, Freint A, Mafee M. Enlargement of the vestibular aqueduct. Am J Otolaryngol 1984; 5: 411–444.
- 63 Walsh R, Ashford C, Chavda S, Proops D. Large vestibular aqueduct syndrome. ORL J Otorhinolaryngol Relat Spec 1999; 61: 41–44.
- 64 Griffith A, Arts A, Downs C, Innis J, Shepard N, Sheldon S, Gebarski S. Familial large vestibular aqueduct syndrome. Laryngoscope 1996; 106: 960–965.
- 65 Ramirez-Camacho R, Ramon Garcia Berrocal J, Arellano B, Trinidad A. Familial isolated unilateral large vestibular aqueduct syndrome. ORL J Otorhinolaryngol Relat Spec 2003; 65: 45–48.
- 66 Riley L, Stokroos R, Manni J. The large vestibular aqueduct syndrome as a cause for sudden deafness in children. Otorhinolaryngol Nova 1998; 8: 230–234.
- 67 Au G, Gibson W. Cochlear implantation in children with large vestibular aqueduct syndrome. Am J Otol 1999; 20: 183–186.
- 68 Fahy C, Carney A, Nikolopoulos N, Ludman C, Gibbin K. Cochlear implantation in children with large vestibular aqueduct syndrome and a review of the syndrome. Int J Pediatr Otorhinolaryngol 2001; 59: 207–215.
- 69 Aschendorff A, Marangos N, Laszig R. Large vestibular aqueduct syndrome and its implication for cochlear implant surgery. Am J Otol 1997; 18: S57.
- 70 Miyamoto R, Bichey B, Wynne M, Kirk K. Cochlear implantation with large vestibular aqueduct syndrome. Laryngoscope 2002; 112: 1178–1182.
- 71 Bent J, Chute P, Parisier S. Cochlear implantation in children with enlarged vestibular aqueducts. Laryngoscope 1999; 109: 1019–1022.
- 72 Temple R, Ramsden R, Axon P, Saeed S. The large vestibular aqueduct syndrome: the role of cochlear implantation in its management. Clin Otolaryngol Allied Sci 1999; 24: 301–306.
- 73 Lee K, Lee J, Isaacson B, et al. Cochlear implantation in children with enlarged vestibular aqueduct. Laryngoscope 2010; 120: 1675–1681.
- 74 Okamoto K, Ito J, Furusawa T, Sakai K, Horikawa S, Tokiguchi S. MRI of enlarged endolymphatic sacs in the large vestibular aqueduct syndrome. Neuroradiology 1998; 40: 167–172.
- 75 Gussen R. Histological evidence of specialized microcirculation of the endolymphatic sac. Arch Otorhinolaryngol 1980; 228L: 7–16.
- 76 Shirazi A, Fenton J, Fagan P. Large vestibular aqueduct syndrome and stapes fixation. J Laryngol Otol 1994; 108: 989–990.
- 77 Schuknecht H, Richter E. Apical lesions of the cochlea in idiopathic endolymphatic hydrops and other disorders: pathophysiological implications. ORL 1980; 42: 46–76.
- 78 Naganawa S, Koshikawa T, Fukatsu H, Ishigaki T, Nakashima T. Serial MR imaging studies in enlarged endolymphatic duct and sac syndrome. Eur Radiol 2002; 12: S114–S117.
- 79 Talbot J, Wilson D. Computed tomographic diagnosis of X-linked congenital deafness, fixation of the stapedial footplate, and perilymphatic gusher. Am J Otol 1994; 15: 177–182.
- 80 Hirai S, Cureoglu S, Schachern P, et al. Large vestibular aqueduct syndrome: a human temporal bone study. Laryngoscope 2006; 116: 2007–2011.
- 81 Merchant S, Nakajima H, Halpin C, et al. Clinical investigation and mechanism of air-bone gaps in large vestibular aqueduct syndrome. Ann Otol Rhinol Laryngol 2007; 116: 532–541.
- 82 Sheykholeslami K, Schmerber S, Habiby M, Kaga K. Vestibular-evoked myogenic potentials in three patients with large vestibular aqueduct. Hear Res 2004; 190: 161–168.
- 83 Schessel D, Nedzelski J. Presentation of large vestibular aqueduct syndrome to a dizziness unit. J Otolaryngol 1992; 21: 265–269.
- 84 Okumura T, Takahashi H, Honjo I, Takagi A, Azato R. Magnetic resonance imaging of patients with large vestibular aqueducts. Eur Arch Otorhinolaryngol 1996; 253: 425–428.
- 85 Yetsier S, Kertmen M, Ozkaptan Y. Vestibular disturbance in patients with large vestibular aqueduct syndrome (LVAS). Acta Otolaryngol 1999; 119: 641–646.
- 86 Oh A, Ishiyama A, Baloh R. Vertigo and the enlarged vestibular aqueduct syndrome. J Neurol 2001; 248: 971–944.
- 87 Zhou G, Gopen Q. Characteristics of vestibular evoked myogenic potentials in children with enlarged vestibular aqueduct. Laryngoscope 2010; 121: 220–225.
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