Another name for encephalotrigeminal angiomatosis is
**Core Concept**
Encephalotrigeminal angiomatosis, also known as Sturge-Weber syndrome, is a rare congenital disorder characterized by the presence of a port-wine stain on the face, typically on the forehead and upper eyelid, along with leptomeningeal angiomas and calcifications in the brain, leading to various neurological manifestations.
**Why the Correct Answer is Right**
The condition is caused by a mutation in the GNAQ gene, which encodes for a subunit of the G protein involved in the signaling pathway of the endothelial cells. This mutation leads to the development of angiomas, which are abnormal blood vessels that can cause the port-wine stain, leptomeningeal angiomas, and calcifications in the brain. The condition is often associated with seizures, glaucoma, and intellectual disability.
**Why Each Wrong Option is Incorrect**
**Option A:** Sturge-Weber syndrome is not another name for Klippel-Trenaunay-Weber syndrome, which is a different condition characterized by an abnormal formation of blood vessels and soft tissues.
**Option B:** Encephalotrigeminal angiomatosis is not another name for Von Hippel-Lindau disease, which is a genetic disorder that predisposes individuals to develop benign and malignant tumors in various organs, including the brain.
**Option C:** Sturge-Weber syndrome is not another name for Osler-Weber-Rendu syndrome, which is a rare genetic disorder characterized by the presence of multiple arteriovenous malformations (AVMs) in various organs.
**Clinical Pearl / High-Yield Fact**
Sturge-Weber syndrome is often associated with a characteristic "tram-track" calcification on radiographic imaging, which is a valuable diagnostic clue.
**Correct Answer: D. Sturge-Weber syndrome.**