Estudio de un caso de hipoalbuminemia severa

  1. María Belén Vila Dorrio
  2. Patricia Blanco Arias
  3. Marta Díaz Ondina
  4. Carmen Santos Quintairos
  5. Juan Luis Hernández Domínguez
  6. José Dobarro Casado
  7. Gabriel Jaime Sánchez
Journal:
Revista del laboratorio clínico

ISSN: 1888-4008

Year of publication: 2012

Volume: 5

Issue: 2

Pages: 81-86

Type: Article

DOI: 10.1016/J.LABCLI.2012.01.004 DIALNET GOOGLE SCHOLAR

More publications in: Revista del laboratorio clínico

Abstract

Ataxia with oculomotor apraxia and severe hypoalbuminemia (AOA/EAOH) is a rare entity characterized by early onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and peripheral neuropathy leading to severe quadriplegia. AOA/EAOH belongs to the group of autosomal recessive ataxias, being the most frequent after Friedreich's ataxia. Definitive diagnosis provided by identification of mutations in the APTX gene encoding aprataxin. This case study of a 52 year-old woman with childhood onset of the disease, suggested by symptoms and several additional findings, who has been diagnosed 30 years later.

Data source: Dialnet