Neurológia pre prax 2/2011
Transthyretin-related hereditory amyloidosis and its neurological manifestations
Amyloidosis is a group of diseases characterized by deposition of amyloid in tissues. Hereditary amyloidosis with defect of transthyretin is a disease with deposition of deficient protein transthyretin. Polyneuropathy, vitritis, kardiomyopathy, gastrointestinal disorder with malabsorbtion, hepatomegaly are dominant in the clinical picture. A liver transplantation is the most effective therapy, because the place of synthesis of deficient protein is removed. I present the case of a woman suffering from this disease and describe the way, how her diagnosis has been proved.
Keywords: amyloid, hereditary amyloidosis with defect of transthyretin, clinical picture, diagnosis, therapy.
