Disease relevance of Vestibular Aqueduct

• Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations [1].
• Distal renal tubular acidosis associated with large vestibular aqueduct and sensorineural hearing loss [2].
• CONCLUSION: These findings suggest a correlation between progressive fluctuant sensorineural hearing loss with caloric hypofunction and the presence of an enlarged vestibular aqueduct in the BOR syndrome [3].
• A case of acute profound unilateral sensorineural hearing loss and balance disturbance following minor head trauma in the presence of an abnormally enlarged vestibular aqueduct is described [4].
• OBJECTIVE: A new large family with the BOR syndrome is reported with special reference to the presence of a widened vestibular aqueduct and a progressive sensorineural component in the mixed hearing loss [5].

High impact information on Vestibular Aqueduct

• Mutations in the SLC26A4 gene cause both classical PS and deafness associated with an enlarged vestibular aqueduct without goiter.To investigate a possible genotype-phenotype correlation in PS, we performed a detailed clinical and genetic study in three adult German sibs with typical PS caused by a common homozygous SLC26A4 mutation, T416P [6].
• Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients [7].
• Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese [8].
• Malformations of the inner ear, specifically enlargement of the vestibular aqueduct, are common in Pendred syndrome and mutations in the PDS (Pendred Syndrome) gene have been recorded in patients presenting with deafness and vestibular aqueduct dilatation only, without other features of Pendred syndrome [9].
• Large vestibular aqueduct and congenital sensorineural hearing loss [10].

Biological context of Vestibular Aqueduct

• Familial large vestibular aqueduct syndrome suggests autosomal recessive or X-linked inheritance and accounts for non-syndromic sensorineural hearing loss in these patients [11].

Anatomical context of Vestibular Aqueduct

• In all the individuals harboring PDS mutations, but not in the family without PDS mutations, inner ear malformations, such as enlargement of the vestibular aqueduct and of the endolymphatic duct and sac, were documented [12].
• Correlation of high resolution computed tomography and gross anatomic sections of the temporal bone. Part III. Cochlear and vestibular aqueducts [13].
• The large vestibular aqueduct syndrome describes an abnormally large endolymphatic duct and sac with associated sensorineural hearing loss [14].
• The vestibular aqueduct at its opening into the epidural space is well visualized in the coronal plane, and as it traverses the bone toward the vestibule it appears as an oval to spherical lucency, whereas in transaxial sections it is seen as a small longitudinal lucency [13].
• Since 1982, computed tomography of the mastoids has become part of the routine investigation of deaf children at Sainte-Justine Hospital. Using clinical, audiometric and radiological material from 130 patients with sensorineural hearing loss, we identified 18 patients with enlarged vestibular aqueducts [15].

Associations of Vestibular Aqueduct with chemical compounds

• We assessed 57 patients referred with radiological evidence of vestibular aqueduct enlargement, by history, clinical examination, perchlorate discharge test and molecular analysis of the PDS locus [9].
• OBJECTIVE: To characterize the appearance of the normal vestibular aqueduct on coronal computed tomography (CT) [16].

Gene context of Vestibular Aqueduct

• PDS mutations were found only in patients with enlarged vestibular aqueducts and EYA1 mutations were detected only in patients with ear pits and cervical fistulae, indicating that these two genes are associated with particular forms of middle and inner ear malformation [17].
• OBJECTIVES:: The objectives of this study were to identify SIX1 gene mutations in a patient with branchio-oto syndrome (BO) and to clarify the relationship between SIX1 mutation and enlargement of the vestibular aqueduct (EVA) [18].
• The histopathologic findings included severe Mondini dysplasia with unusual enlargement of the vestibular aqueducts and endolymphatic sacs [19].
• Imaging case of the month. Large vestibular aqueduct syndrome [20].
• RESULTS: An etiologic diagnosis was achieved in 6 patients: cochlear otosclerosis, 1 case; dilated vestibular aqueduct, 1 case; a mitochondrial DNA 7445A>G mutation, 3 cases; and a mitochondrial DNA 1555A>G mutation, 1 case [21].

References