An unfortunate case of Pendred syndrome.

Abstract

OBJECTIVE:

To report a patient with Pendred syndrome who developed life-threatening hypokalaemia as an unpredicted consequence of implant-induced imbalance and alcohol dependency, leading to multiple cardiac arrests.

SETTING:

Addenbrooke's Hospital, Cambridge, UK.

METHOD:

Case report and review of the English language literature concerning Pendred syndrome and cochlear implantation in Pendred syndrome patients.

RESULT:

Pendred syndrome is an autosomal recessive disorder which mainly affects the inner ear, thyroid and kidneys. It accounts for 10 per cent of syndromic hearing loss cases. The majority of Pendred syndrome patients are referred to cochlear implant programmes for hearing assessment and therapy. They may also have an underlying metabolic abnormality which is not clinically apparent.

CONCLUSION:

Providing cochlear implants to patients with Pendred syndrome demands extensive knowledge of this condition, in order to avoid potential morbidity.

• Authors: A Sanei-Moghaddam, T Wilson, S Kumar, R Gray
• Journal: The Journal of laryngology and otology (J Laryngol Otol) Vol. 125 Issue 9 Pg. 965-7 (Sep 2011) ISSN: 1748-5460 [Electronic] England
• PMID: 21745434 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• Membrane Transport Proteins
• SLC26A4 protein, human
• Sulfate Transporters

Topics

• Alcoholism (complications)
• Alkalosis (complications)
• Cochlear Implantation (adverse effects)
• Confusion (complications)
• Female
• Goiter, Nodular (diagnosis, diagnostic imaging, genetics)
• Hearing Loss, Sensorineural (diagnosis, diagnostic imaging, genetics, rehabilitation, surgery)
• Heart Arrest (complications, rehabilitation)
• Humans
• Hypothyroidism
• Membrane Transport Proteins (genetics)
• Middle Aged
• Patient Compliance
• Postural Balance (physiology)
• Radiography
• Sulfate Transporters
• Tinnitus (etiology)
• United Kingdom
• Ventricular Fibrillation
• Vomiting (complications)