[Familial amyloidotic polyneuropathy type I].
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.
Guevara
Carlos
C
Servicio de Neurología, Hospital Naval de Valparaíso. rebecarlos@hotmail.com
Barrientos
Nelson
N
Flores
Alex
A
Idiáquez
Juan
J
D000328:Adult; D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged