Large vestibular aqueduct syndrome: audiological, radiological, clinical, and genetic features

Stefano Berrettini1, Francesca Forlì, Fausto Bogazzi, Emanuele Neri, Luca Salvatori, Augusto Pietro Casani, Stefano Sellari Franceschini
1ENT Unit, Neuroscience Department, University of Pisa, 56126 Pisa, Italy. [email protected]

Tóm tắt

Từ khóa


Tài liệu tham khảo

Jackler, 1989, The large vestibular aqueduct syndrome, Laryngoscope, 99, 1238, 10.1288/00005537-198912000-00006

Levenson, 1989, The large vestibular aqueduct syndrome in children, Arch Otolaryngol Head Neck Surg, 115, 54, 10.1001/archotol.1989.01860250056026

Irving, 1997, Large vestibular aqueduct syndrome, Curr Opin Otolaryngol Head Neck Surg, 5, 267, 10.1097/00020840-199710000-00001

Tong, 1997, Large vestibular aqueduct syndrome: a genetic disease?, AJR Am J Roentgenol, 168, 1097, 10.2214/ajr.168.4.9124122

Abe, 1997, Three familial cases of hearing loss associated with enlargement of the vestibular aqueduct, Ann Otol Rhinol Laryngol, 106, 1063, 10.1177/000348949710601210

Walsh, 1999, Large vestibular aqueduct syndrome, ORL J Otorhinolaryngol Relat Spec, 61, 41, 10.1159/000027637

Nowak, 2000, Isolated large vestibular aqueduct syndrome in a family, Ann Otol Rhinol Laryngol, 109, 40, 10.1177/000348940010900107

Satoh, 1999, Four cases of familial hearing loss with large vestibular aqueducts, Eur Arch Otorhinolaryngol, 256, 83, 10.1007/s004050050121

Govaerts, 1999, Audiological findings in large vestibular aqueduct syndrome, Int J Pediatr Otorhinolaryngol, 51, 157, 10.1016/S0165-5876(99)00268-2

Okumura, 1995, Sensorineural hearing loss in patients with large vestibular aqueduct, Laryngoscope, 105, 289, 10.1288/00005537-199503000-00012

Belenky, 1993, The enlarged vestibular aqueduct syndrome (EVA syndrome), Ear Nose Throat J, 72, 746, 10.1177/014556139307201113

Puls, 1997, Large vestibular aqueduct syndrome with mixed hearing loss: a case report, Acta Otorhinolaryngol Belg, 51, 185

Callison, 1998, Large vestibular aqueduct syndrome: an overlooked etiology for progressive childhood hearing loss, J Am Acad Audiol, 9, 285

Emmet, 1985, The large vestibular aqueduct syndrome, Am J Otolaryngol, 6, 387

Valvassori, 1978, The large vestibular aqueduct syndrome, Laryngoscope, 88, 723, 10.1002/lary.1978.88.5.723

Abe, 1999, Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene, Am J Med Genet, 82, 322, 10.1002/(SICI)1096-8628(19990212)82:4<322::AID-AJMG9>3.0.CO;2-0

Pendred, 1896, Deaf-mutism and goitre, Lancet, II, 532, 10.1016/S0140-6736(01)74403-0

Cremers, 1998, Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome, Arch Otolaryngol Head Neck Surg, 124, 501, 10.1001/archotol.124.5.501

Phelps, 1997, Large endolymphatic sac. A congenital deformity of the inner ear shown by magnetic resonance imaging, J Laryngol Otol, 111, 754, 10.1017/S0022215100138538

Fugazzola, 2000, Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome, J Clin Endocrinol Metab, 85, 2469, 10.1210/jc.85.7.2469

Scott, 2000, Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4), Hum Mol Genet, 9, 1709, 10.1093/hmg/9.11.1709

Stinckens, 2001, The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchio-oto-renal syndrome. A family study, Int J Pediatr Otorhinolaryngol, 59, 163, 10.1016/S0165-5876(01)00473-6

Berrettini, 2002, Distal renal tubular acidosis associated with isolated large vestibular aqueduct and sensorineural hearing loss, Ann Otol Rhinol Laryngol, 111, 385, 10.1177/000348940211100501

Griffith, 1996, Familial large vestibular aqueduct syndrome, Laryngoscope, 106, 960, 10.1097/00005537-199608000-00009

Sheffield, 1996, Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification, Nat Genet, 12, 424, 10.1038/ng0496-424

Coyle, 1996, Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4, Nat Genet, 12, 421, 10.1038/ng0496-421

Everett, 1997, Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS), Nat Genet, 17, 411, 10.1038/ng1297-411

Usami, 1999, Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations, Hum Genet, 104, 188, 10.1007/s004390050933

Stephens, 2001, Audiological terms, 9

Fitzgerald, 1942, Studies in the human vestibular function: observations on the directional preponderance of caloric nystagmus resulting from cerebral lesions, Brain, 65, 115, 10.1093/brain/65.2.115

Neri, 2000, High-resolution magnetic resonance and volume rendering of the labyrinth, Eur Radiol, 10, 114, 10.1007/s003300050015

Neri, 2001, Virtual endoscopy of the middle ear, Eur Radiol, 11, 41, 10.1007/s003300000612

Bogazzi, 2000, A novel mutation in the pendrin gene associated with Pendred's syndrome, Clin Endocrinol, 52, 279, 10.1046/j.1365-2265.2000.00930.x

Bogazzi, 2004, Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct, J Endocrinol Invest, 27, 430, 10.1007/BF03345286

Lopez-Bigas, 1999, Splice-site mutation in PDS gene may result in intrafamilial variability for deafness in Pendred syndrome, Hum Mutat, 14, 520, 10.1002/(SICI)1098-1004(199912)14:6<520::AID-HUMU11>3.0.CO;2-K

Jackler, 1987, Congenital malformations of the inner ear: a classification based on embryogenesis, Laryngoscope, 97, 2

Mondini, 1791, Caroli Mundini Anatomica surdi nati sectio, De bononiensi scientiarum et artium. Instituto atque Academia commentarii, 419

Reussner, 1995, Large vestibular aqueduct syndrome with massive endolymphatic sacs, Otolaryngol Head Neck Surg, 113, 606, 10.1177/019459989511300513

Yetiser, 1999, Vestibular disturbance in patients with large vestibular aqueduct syndrome (LVAS), Acta Otolaryngol (Stockh), 119, 641, 10.1080/00016489950180568

Aschendorff, 1997, Large vestibular aqueduct syndrome and its implication for cochlear implant surgery, Am J Otolaryngol, 18, S57

Au, 1999, Cochlear implantation in children with large vestibular aqueduct syndrome, Am J Otolaryngol, 20, 183

Bent, 1999, Cochlear implantation in children with enlarged vestibular aqueducts, Laryngoscope, 109, 1019, 10.1097/00005537-199907000-00001

Miyamoto, 2002, Cochlear implantation with large vestibular aqueduct syndrome, Laryngoscope, 112, 1178, 10.1097/00005537-200207000-00006

Bichey, 2002, Changes in quality of life and the cost-utility associated with cochlear implantation in patients with large vestibular aqueduct syndrome, Otol Neurotol, 23, 323, 10.1097/00129492-200205000-00016

Vescan, 2002, Cochlear implantation and Pendred's syndrome mutation in monozygotic twins with large vestibular aqueduct syndrome, J Otolaryngol, 31, 54, 10.2310/7070.2002.19332

Dahlen, 1997, Overlapping thin section fast spin echo MR of the large vestibular aqueduct syndrome: comparison with CT, Am J Neuroradiol, 18, 67

Schessel, 1992, Presentation of large vestibular aqueduct syndrome to a dizziness unit, J Otolaryngol, 21, 265

Okumura, 1995, Vestibular function in patients with large vestibular aqueduct, Acta Otolaryngol (Stockh) Suppl, 520, 323, 10.3109/00016489509125262

Harnsberger, 1995, Advanced techniques in magnetic resonance imaging in the evaluation of the large endolymphatic duct and sac syndrome, Laryngoscope, 105, 1037, 10.1288/00005537-199510000-00005

Okamoto, 1997, Large vestibular aqueduct syndrome with high CT density and high MR signal intensity, Am J Neroradiol, 18, 482

Mafee, 1982, Large vestibular aqueduct and congenital sensorineural hearing loss, Am J Neuroradiol, 13, 805

Schroeder, 2000, Large vestibular aqueduct syndrome, Am J Otolaryngol, 21, 433, 10.1016/S0196-0709(00)80056-3

Okamoto, 1998, MRI of enlarged endolymphatic sacs in the large vestibular aqueduct syndrome, Neuroradiology, 40, 167, 10.1007/s002340050561

Naganawa, 2002, Serial MR imaging studies in enlarged endolymphatic duct and sac syndrome, Eur Radiol, 12, S114, 10.1007/s00330-002-1525-9

Chen, 1995, Phenotypic manifestations of branchiootorenal syndrome, Am J Med Genet, 58, 365, 10.1002/ajmg.1320580413

Karet, 1999, Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness, Nat Genet, 21, 84, 10.1038/5022

Cremers, 1998, Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome, Int J Pediatr Otorhinolaryngol, 45, 113, 10.1016/S0165-5876(98)00123-2

Reardon, 1997, Pendred syndrome—100 years of underascertainment?, Q J Med, 90, 443, 10.1093/qjmed/90.7.443

Reardon, 1999, Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome, J Med Genet, 36, 595

Iwasaki, 2001, Long-term audiological feature in Pendred syndrome caused by PDS mutation, Arch Otolaryngol Head Neck Surg, 127, 705, 10.1001/archotol.127.6.705

Reardon, 2000, Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene, Q J Med, 93, 99, 10.1093/qjmed/93.2.99

Masmoudi, 2000, Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation, Am J Med Genet, 90, 38, 10.1002/(SICI)1096-8628(20000103)90:1<38::AID-AJMG8>3.0.CO;2-R

Fujita, 1996, Three-dimensional course of the vestibular aqueduct, Eur Arch Otorhinolaryngol, 253, 122, 10.1007/BF00615107

Greinwald, 1998, Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31, Am J Med Genet, 78, 107, 10.1002/(SICI)1096-8628(19980630)78:2<107::AID-AJMG2>3.0.CO;2-L

Li, 1998, A mutation in PDS causes nonsyndromic recessive deafness, Nat Genet, 18, 215, 10.1038/ng0398-215

Ishinaga, 2002, Pendred's syndrome with goiter and enlarged vestibular aqueducts diagnosed by Pds gene mutation, Head Neck, 24, 710, 10.1002/hed.10081

Lopez-Bigas, 2001, Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment, Hum Mutat, 16, 1

Kitamura, 2000, Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct, Acta Otolaryngol, 120, 137, 10.1080/000164800750000775

Royaux, 2000, Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells, Endocrinology, 141, 839, 10.1210/en.141.2.839

Everett, 1999, Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear, Proc Natl Acad Sci U S A, 96, 9727, 10.1073/pnas.96.17.9727

Everett, 2001, Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome, Hum Mol Genet, 10, 153, 10.1093/hmg/10.2.153