Hunter nelson sturge weber syndrome center i kennedy krieger. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for sturgeweber syndrome. Sturgeweberdimitri syndrome and language request pdf. Sturgeweber syndrome associated with naevus of ota eye. Choroidal hemangiomas grow slowly and usually do not cause any symptoms. The sturge weber syndrome is, in its complete form, the association of ocular, cutaneous and cerebral anomalies. The association of sturge weber syndrome with naevus of ota is an infrequently reported phenomenon and there are only four previously described cases in the literature. Sturge weber syndrome is a neurocutaneous disorder classically presenting with a facial portwine stain, vascular eye abnormalities, and an ipsilateral occipital leptomeningeal angioma. Full text ocular manifestations of sturgeweber syndrome. Sturgeweber syndrome sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder.
Images in clinical medicine from the new england journal of medicine sturge weber syndrome. The diagnosis is usually obvious on account of a congenital facial cutaneous hemangioma also known as port wine stain or facial nevus flammeus. General objective general objective specific objectives specific objectives to recognize symptoms of sturge weber syndrome. Inspite of being uncommon, this is the most frequent disease among the neurocutaneous syndromes specially with vascular predominance, with a prevalence of 150,000 live births and no racial bias 2. To access free multiple choice questions on this topic, click here. Hemispherectomy for sturgeweber syndrome video dailymotion. Sturge weber syndrome a rare congenital neurological and skin disorder associated with portwine stains of the face, glaucoma, seizures, intellectual disability, and cerebral malformations and tumors.
To discuss the management and treatment and prognosis of patients diagnosed with the sturge weber. The full text of this article is available in pdf format. In addition, people with sws have abnormal growth of blood vessels within the tissue that covers the brain and spinal cord leptomeningeal angioma. Babies with sturgeweber syndrome sws are born with a facial birthmark known as a portwine stain. Sturgeweber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a. Studies do not support the widely held belief that seizure frequency early in life in patients who have sws is a prognostic indicator. Sturge in 1879, it is also known as sturge weber disease, leptomeningofacial angiomatosis, sturge weber dimitri syndrome, etc 1,2. Sturge weber syndrome is a rare syndrome, with an incidence estimated at 1 case in 20,00050,000 persons 11 clinical presentation. Magnetic resonance imaging mri, performed when she was an adult, confirmed the lack of a leptomeningeal lesion and existence of a. The color can range from dark red to light pink and it is usually found on one side of the face. Encephalotrigeminal angiomatosis or sturgeweber syndrome. Sturge weber is one of the rare phacomatosis or neurocutaneous syndromes, which consists of abnormal capillary malformations that can involve the face, eyes and leptomeninges of the brain. From the clinical point of view, it is characterized by a winecolor spot on the.
This is case report of a 18yearold mentally disabled boy. Sturge weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in gnaq. Klippeltrenaunay syndrome and sturge weber syndrome. Pdf klippeltrenaunay syndrome and sturgeweber syndrome. Sturge weber syndrome, or encephalotrigeminal angiomatosis, is a phakomatosis characterised by facial port wine stains and pial angiomas. Sturge weber syndrome is also accompanied by abnormal blood vessels on the brain surface and the loss of nerve cells and calcification of underlying tissue in the cerebral cortex of the brain on the same side of the brain as the birthmark. Despite the presence of ocular and cutaneous manifestations, she had never been diagnosed with sturge weber syndrome sws. It is characterized by a facial portwine stain, leptomeningeal angiomatosis, and glaucoma. Collected methodological writings weber in translation pdf free. Cronemberger s, calixto n, assuncao dam, milhomens. It has been recently demonstrated by shirely et al that it is caused by a somatic activating mutation. Natural history and magnetic resonance imaging followup in 9 sturgeweber syndrome patients and clinical correlation. Sturge weber syndrome, encephalotrigeminal angiomatosis, neurocutaneous syndromes.
If you have problems viewing pdf files, download the latest version of adobe reader for language access assistance, contact the ncats public information officer genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 toll free. Sturgeweber syndrome genetic and rare diseases information. This article offers direct evidence for the safety of aspirin use among sturge weber syndrome patients and suggests that aspirin is a practical and useful treatment for these patients. Pdf sturge weber syndrome, also known as encephalo trigeminal hemangiomatosis, is an uncommon congenital condition. Sturgeweber syndrome sws is a neurocutaneous syndrome characterized by.
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