Delayed diagnosis of Pendred syndrome. (12th September 2016)

• Record Type: Journal Article
• Authors: Smith, Natalie; U-King-Im, Jean-Marie; Karalliedde, Janaka
• Is Part Of: BMJ case reports. Volume 2016
• Publication Date: 2016-09-12
• Subjects: Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2016-215271
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : We describe a case of a delayed diagnosis of Pendred syndrome. The patient had a history of hearing loss from childhood and presented to the endocrine clinic when aged 32 with an enlarging goitre. The characteristic Mondini deformity was noted on auditory canal MRI scan. Genetic tests confirmed the diagnosis. Pendred syndrome is an autosomal recessive disorder, characterised by congenital sensorineural hearing loss, goitre and impaired iodide organification and can present at any age. We highlight to the general physician the classical features of this syndrome that would aid early diagnosis.