Polineuropatía amiloidótica familiar tipo I: Report of one case

• Carlos Guevara O ^[1] ; Nelson Barrientos U ^[1] ; Alex Flores R ^[1] ; Juan Idiáquez C ^[2]
  1. [1] Hospital DIPRECA Unidad de Neurofisiología Clínica Servicio Neurología-Neurocirugía
  2. [2] Hospital Naval de Valparaíso Servicio de Neurología
• Localización: Revista Médica de Chile, ISSN-e 0034-9887, Vol. 131, Nº. 10, 2003, págs. 1179-1182
• Idioma: español
• Títulos paralelos:
  • Familial amyloidotic polyneuropathy type I
• Enlaces
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• Resumen

  • 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 (Rev Méd Chile 2003; 131: 1179-82).