Polineuropatía amiloidótica familiar tipo I / Familial amyloidotic polyneuropathy type I
Rev. méd. Chile
;
131(10): 1179-1182, oct. 2003.
Article
Dans Espagnol
| LILACS
| ID: lil-355977
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.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Neuropathies amyloïdes familiales
Limites du sujet:
Adulte
/
Femelle
/
Humains
/
Mâle
langue:
Espagnol
Texte intégral:
Rev. méd. Chile
Thème du journal:
Médicament
Année:
2003
Type:
Article
Pays d'affiliation:
Chili
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