Sturge disease, also known as Sturge-Weber syndrome, is a rare neurological disorder that affects the skin and brain. The spelling of the word "Sturge" is pronounced /stɜrdʒ/ using the International Phonetic Alphabet (IPA). The "s" is pronounced as /s/, the "t" as /t/, and "u" as /ɜr/. The "r" following "u" is silent, making the sound /stɜr/. Lastly, the "g" is pronounced as /dʒ/, giving the word its final sound /stɜrdʒ/.
Sturge disease, also known as Sturge-Weber syndrome (SWS), is a rare congenital neurocutaneous disorder characterized by the presence of a port-wine stain birthmark on the face and potential abnormalities in the brain, eyes, and other organs. This condition is caused by a sporadic genetic mutation that occurs early in embryonic development.
The primary characteristic of Sturge disease is the presence of a port-wine stain birthmark, which is a dark red or purple discoloration typically found on one side of the face. This birthmark is a result of malformed blood vessels that cause increased blood flow and can affect the skin, eyes, and underlying tissues. In addition to the skin manifestation, individuals with Sturge disease may also experience abnormalities in the brain, such as abnormal blood vessel development, leading to impaired brain function and seizures. Eye abnormalities, including glaucoma, may also be present in some cases.
The severity of symptoms and complications associated with Sturge disease can vary widely, ranging from mild to severe. Management of this condition typically involves a multidisciplinary approach, incorporating the efforts of neurologists, dermatologists, ophthalmologists, and other specialists. Treatment options may include medication to manage seizures, surgeries to address glaucoma or other eye abnormalities, and laser treatments to improve the appearance of the birthmark.
Sturge disease is a lifelong condition that requires ongoing medical care and support. However, with appropriate management, individuals with Sturge disease can lead productive lives and achieve their full potential.
The term "Sturge Disease" is named after Dr. William Allen Sturge, an English physician who first described the condition now known as Sturge-Weber syndrome. In 1879, Dr. Sturge published a series of case reports detailing the association between a facial birthmark (port-wine stain) and neurological abnormalities. His work was instrumental in recognizing this rare disorder and understanding its clinical features. The name "Sturge-Weber syndrome" emerged later to acknowledge the contributions of Dr. Frederick Parkes Weber, who also contributed to the understanding of the condition.