Leptomeningeal amyloidosis: features of the clinical picture (clinical observation)

Hereditary transthyretin amyloidosis belongs to a group of diseases with an autosomal dominant type transmission and heterogeneous clinical picture, which depends on the gene mutation. The leptomeningeal form is rare phenotypic variant predominant involvement brain spinal cord meninges, as well cortical meningeal vessels. main manifestations this phenotype include cephalalgic syndrome, episodes acute cerebrovascular accident, hearing impairment, epileptic seizures, progressive cognitive impairment reaching degree dementia, impaired consciousness, etc. article describes case revealing amyloidogenic mutation Ala45Thr hereditary family history typical at onset disease, renal function. Neuroimaging contrast enhancement revealed characteristic thickening meninges due deposition amyloid masses.