Polineuropatía amiloidótica familiar tipo I: Report of one case

Carlos Guevara O,Nelson Barrientos U,Juan Idiáquez C,Alex Flores R

doi:10.4067/s0034-98872003001000012

Carlos Guevara O, Nelson Barrientos U + Show 2 more

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https://doi.org/10.4067/s0034-98872003001000012

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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.

Highlights

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
We report a 25 years old man with 18 months history of dysesthesias and pain in the toes, abnormal micturition and sexual dysfunction
Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis

Summary

Polineuropatía amiloidótica familiar tipo I

Carlos Guevara O1, Nelson Barrientos U1, Alex Flores R1, Juan Idiáquez C2. 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. 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. L as polineuropatías amiloidóticas familiares (PAF) son enfermedades genéticamente determinadas, autosómicas dominantes, que se caracterizan por el depósito extracelular de fibrillas de amiloide en varios órganos y tejidos, siendo predominante la afectación de los nervios periféricos[1,2]. El estudio electroneuromiográfico de las cuatro extremidades fue compatible con una polineuropatía sensitivo-motora, neuroaxonal, de intensidad leve que afectaba los segmentos distales de las extremidades inferiores (Tabla 1). El estudio de la función autonómica mostró un compromiso de las fibras simpáticas eferentes postganglionares causante de hipotensión ortostática neurogénica y a nivel cutáneo una denervación a nivel de las fibras eferentes amielínicas en las plantas de los pies.

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