Polineuropatía amiloidótica familiar tipo I / Familial amyloidotic polyneuropathy type I
Rev. méd. Chile
; 131(10): 1179-1182, oct. 2003.
Article
em Es
| LILACS
| ID: lil-355977
Biblioteca responsável:
CL12.1
ABSTRACT
Familial amyloidotic polyneuropathy type I is an autosomal dominant inherited disorder characterized by progressive peripheral and autonomic neuropathy, associated with neural and systemic amyloid deposits. The abnormality usually lies in the transthyretin (TTR) gene. We report a 25 years old man with 18 months history of dysesthesias and pain in the toes, abnormal micturition and sexual dysfunction. Neurophysiologically studies disclosed a sensory-motor axonal polyneuropathy. Autonomic tests showed sympathetic and parasympathetic involvement. An electron micrograph of sural nerve revealed amyloid fibrils in the endoneurium. His mother died after a clinical history suggestive, in retrospect, of familial amyloidotic polyneuropathy type I. The clinical and genetic analysis of this cause of polyneuropathy are discussed.
Texto completo:
1
Índice:
LILACS
Assunto principal:
Neuropatias Amiloides Familiares
Limite:
Adult
/
Female
/
Humans
/
Male
Idioma:
Es
Revista:
Rev. méd. Chile
Assunto da revista:
MEDICINA
Ano de publicação:
2003
Tipo de documento:
Article