title: Enlarged vestibular aqueduct in two male siblings.
abstract: This report describes the case history of two male siblings with sensorineural hearing loss and an enlarged vestibular aqueduct (EVA). Sibling 1 presented with a history of intermittent self-limiting ataxia and hearing loss at the age of 25 months and sibling 2 presented with a similar history at the age of 18 months. MRI showed an enlarged endolymphatic duct and sac bilaterally in both children. Perchlorate discharge tests were positive in both infants leading to a diagnosis of Pendred syndrome. A number of conditions associated with EVA are discussed with a view to devising management strategies.
authors.affiliation: Children's Centre, Halliwell, Bolton, UK.
authors.forename: C M
authors.initials: CM
authors.lastname: Varghese
authors.forename: P
authors.initials: P
authors.lastname: Scampion
authors.forename: V K
authors.initials: VK
authors.lastname: Das
authors.forename: J
authors.initials: J
authors.lastname: Gillespie
authors.forename: D
authors.initials: D
authors.lastname: Umapathy
mesh_terms: D002675:Child, Preschool; D004108:Dilatation, Pathologic; D004711:Endolymphatic Duct / Q000002:abnormalities / Q000473:pathology; D004712:Endolymphatic Sac / Q000002:abnormalities / Q000473:pathology; D005500:Follow-Up Studies; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006320:Hearing Tests; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008575:Meniere Disease / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014723:Vestibular Aqueduct / Q000002:abnormalities* / Q000473:pathology