Estudio de un caso de hipoalbuminemia severa

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

ISSN: 1888-4008

Ano de publicación: 2012

Volume: 5

Número: 2

Páxinas: 81-86

Tipo: Artigo

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

Outras publicacións en: Revista del laboratorio clínico

Obxectivos de Desenvolvemento Sustentable

Resumo

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.

Fonte de datos: Dialnet