Rendu osler weber syndrome with bilateral, multiple and diffuse pulmonary arterio-venous malformations

Rendu-Osler-Weber disease is an autosomic dominant disorder, which is characterized by the development of multiple arteriovenous malformations in either the skin, mucous membranes, and/or visceral organs. Pulmonary arteriovenous malformations (PAVMs) may either rupture, and lead to life-threatening hemoptysis/hemothorax or be responsible for a right-to-left shunting leading to paradoxical embolism, causing stroke or cerebral abscess. PAVMs … Read more

Crigler-Najjar syndrome type 2

Crigler-Najjar syndrome type 2 is a severe condition that causes elevated levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin normally is produced by the body when old red blood cells are broken down. However, people with CN-2 develop hyperbilirubinemia even when red blood cells are not excessively broken down, because they have too little of … Read more