Síndrome de Jervell y Lange-Nielsen / Jervell and Lange-Nielsen Syndrome
Rev. otorrinolaringol. cir. cabeza cuello
; 73(3): 268-270, dic. 2013. ilus
Article
in Spanish
| LILACS
| ID: lil-704561
Responsible library:
CL30.1
RESUMEN
El síndrome de Jervell y Lange-Nielsen es una forma poco frecuente de síndrome de QT largo. Su herencia es autosómica recesiva y se manifiesta con sordera neurosensorial. Revisamos el caso de una niña de 7 años implantada coclear bilateral. Tras un episodio sincopal se realiza el diagnóstico de síndrome de QT largo, el estudio genético confirma el diagnóstico. Recomendamos realizar electrocardiograma a todos los niños con hipoacusia severa con el objeto de descartar este síndrome.
ABSTRACT
The Jervell and Lange-Nielsen (JLNS) is an uncommon form of long QT syndrome. His inheritance is autosomal recessive and manifests as a sensorineural deafness. We review the case of a 7 year old girl bilateral cochlear implanted. After a syncope episode, a long QT syndrome was confirmed by genetic study. We recommend electrocardiogram (ECG) to all children with severe hearing loss in order to rule out this syndrome.
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Jervell-Lange Nielsen Syndrome
/
Hearing Loss
Type of study:
Diagnostic study
Limits:
Child
/
Female
/
Humans
Language:
Spanish
Journal:
Rev. otorrinolaringol. cir. cabeza cuello
Journal subject:
Otolaryngology
Year:
2013
Document type:
Article
Affiliation country:
Spain
Institution/Affiliation country:
Complejo Hospitalario Universitario Insular-Materno Infantil/ES