Polineuropatía amiloidótica familiar tipo I / Familial amyloidotic polyneuropathy type I
Rev. méd. Chile
;
131(10): 1179-1182, oct. 2003.
Article
in Spanish
| 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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Amyloid Neuropathies, Familial
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
Spanish
Journal:
Rev. méd. Chile
Journal subject:
Medicine
Year:
2003
Type:
Article
Affiliation country:
Chile
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