OBJECTIVE To provide a comprehensive update of the clinical picture of lymphangioleiomyomatosis (LAM) using two large patient registries. METHODS A cross sectional questionnaire survey which included questions on 14 LAM symptoms, pneumothorax, tuberous sclerosis complex (TSC), date of diagnosis, and pulmonary function tests (PFTs). RESULTS The response rate was 70.5% (n = 328). The mean age...

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...