Susacs syndrome (retinocochleocerebral vasculopathy) is a very rare form of microangiopathy characterized by encephalopathy, branch retinal artery occlusions and hearing loss. The cause is unknown but it is theorized that antibodies are produced against endothelial cells in tiny arteries which leads to damage and the symptoms related to the illness. Despite this being an extremely rare disease, there are 4 registries collecting data on the illness; two are the United States, one in Germany, and one in Portugal. Presentation
Susacs syndrome is named for Dr. John Susac (1940–2012), of Winter Haven, Florida, who first described it in 1979. Susacs syndrome is a very rare disease, of unknown cause, and many persons who experience it do not display the bizarre symptoms named here. Their speech can be affected, such as the case of a female of late teens who suffered speech issues and hearing problems, and many experience unrelenting and intense headaches and migraines, some form of hearing loss, and impaired vision. The problem usually corrects itself, but this can take up to five years. In some cases, subjects can become confused. The syndrome usually affects women around the age of 18 years, with female to male ratio of cases of 2:1. William F. Hoyt was the first to call the syndrome "Susac syndrome" and later Robert Daroff asked Dr. Susac to write an editorial in Neurology about the disorder and to use the eponym of Susac syndrome in the title, forever linking this disease with him. Pathogenesis
In the March 1979 report in Neurology, Drs.
Pulmonary hemorrhage (or pulmonary haemorrhage) is an acute bleeding from the lung, from the upper respiratory tract and the trachea, and the pulmonary alveoli. When evident clinically, the condition is usually massive. The onset of pulmonary hemorrhage is characterized by a cough productive of blood (hemoptysis) and worsening of oxygenation leading to cyanosis. Treatment should be immediate and should include tracheal suction, oxygen, positive pressure ventilation, and correction of underlying abnormalities such as disorders of coagulation. A blood transfusion may be necessary. Causes
Infant prematurity is the factor most commonly associated with pulmonary hemorrhage. Other associated factors are those that predisposed to perinatal asphyxia or bleeding disorders, including toxemia of pregnancy, maternal cocaine use, erythroblastosis fetalis, breech delivery, hypothermia, infection (like pulmonary tuberculosis), Infant respiratory distress syndrome (IRDS), administration of exogenous surfactants (in some studies) and extracorporeal membrane oxygenation (ECMO). Pathophysiology
Although the pathogenesis is uncertain, it is probable that the symptoms are a consequence of hemorrhagic pulmonary edema, as the hematocrit is lower than normal blood (usually 15-20% less) and the concentration of small proteins is higher than in plasma. It is postulated that the infant suffers from asphyxia with resultant heart attack; this increases pulmonary microvascular pressure, resulting in pulmonary edema. Contributing factors include factors that favor increased filtration of fluid from pulmonary capillaries (e.g., low concentration of plasma proteins, high alveolar surface tension, lung damage, hypervolemia). Diffuse alveolar hemorrhage
Diffuse alveolar hemorrhage is bleeding from many alveoli throughout the lungs. Common causes include autoimmune diseases and connective tissue diseases.