The sturge weber syndrome is, in its complete form, the association of ocular, cutaneous and cerebral anomalies. Lo warren, marchuk douglas, ball karen l, juh csaba, jordan lori, ewen joshua, comi. Full text ocular manifestations of sturgeweber syndrome. From the clinical point of view, it is characterized by a winecolor spot on the face, epilepsy, mental retardation, other neurological deficit manifestations and glaucoma. Sturgeweber syndrome sws is a rare congenital developmental, disorder manifesting with a facial portwine birthmark, and a vascular malformation of the brain. Characterized by corticocerebral angiomatosis, brain calcification, epilepsy, ocular alterations, mental retardation and facial nevus with color of wine port in the.
Sturgeweber syndrome definition sturgeweber syndrome sws is a rare disorder that is present at birth. 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. Sturgeweber syndrome is a disease that affects the skin and nervous system neurocutaneous and is associated with port wine stain, red vascular markings on the face and other parts of the body shown here on the legs. Sturgeweber syndrome is diagnosed based on an identification of the characteristic symptoms of the disease, a detailed patient history, and a thorough clinical evaluation. This means that sturgeweber syndrome, or a subtype of sturgeweber syndrome, affects less than 200,000 people in the us population. 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.
It is an extremely rare condition, and its exact prevalence is unknown. Type ipresents with facial and leptomeningeal angiomas. Sturge weber syndrome occurs with a frequency of approximately 1 per 50,000. This is an unusual case, due to the large size of the lesion extensive involvement. Sturgeweber syndrome is a rare syndrome, with an incidence estimated at 1 case in 20,00050,000 persons 11 clinical presentation. It is named after british dermatologist frederick parkes weber, who first described the syndrome in 1907 in the body, the vascular system consists of arteries, veins and capillaries. The sturgeweber disease is a few condition of development, not hereditary featured of harmatomatous vascular proliferation, involve the tissues of brain and face. The diagnosis is usually obvious on account of a congenital facial cutaneous hemangioma also known as port wine stain or facial nevus flammeus. The sturge weber disease is a few condition of development, not hereditary featured of harmatomatous vascular proliferation, involve the tissues of brain and face. Arriving at the correct epilepsy syndrome andor etiology allows better decisionmaking about treatment and improves patient care.
Sturgeweber syndrome sws is a neurocutaneous syndrome, characterized by the association of facial portwine hemangiomas in the trigeminal nerve distribution area, with vascular malformations. A child with this condition will have a portwine stain birthmark usually on the face and may have nervous system problems. To study the role of gddtpa in cranial mr of patients with sturgeweber syndrome. Sturgeweber syndrome in a 14yearold girl without facial naevus.
Sturge in 1879, it is also known as sturge weber disease, leptomeningofacial angiomatosis, sturge weber dimitri syndrome, etc 1,2. Sturgeweber 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. Clinical spectrum, disease course, and outcome of 30 patients. To confirm a diagnosis, various imaging techniques can be used to assess the nuerological complications of sturgeweber syndrome. This article offers direct evidence for the safety of aspirin use among sturgeweber syndrome patients and suggests that aspirin is a practical and useful treatment for these patients. It affects the skin in the distribution of the ophthalmic branch of the trigeminal nerve. Occasionally the substantia nigra can also be involved 5. Source national institutes of health nih ophanet, a consortium of european partners, currently defines a condition rare when it affects 1 person per 2,000. The international league against epilepsy ilae diagnostic manuals goal is to assist clinicians who look after people with epilepsy to diagnose the epilepsy syndrome and if possible the etiology of the epilepsy. Sturgeweber syndrome symptoms, diagnosis, treatments and.
The association of sturgeweber syndrome with naevus of ota is an infrequently reported phenomenon and there are only four previously described cases in the literature. The klippeltrenaunayweber syndrome is sometimes associated with sws see bonse, 1951 and nonnenmacher, 1955. This is case report of a 18yearold mentally disabled boy. This stain is a birthmark caused by an overabundance of. Sturgeweber syndrome uncountable a rare phakomatosis characterized by abnormal blood vessels on the surface of the brain, and often associated with portwine stains of the face, glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal angioma. Parkes weber syndrome pws is a congenital disorder of the vascular system. Caldarelli m, di rocco c, rossi gf, di trapani g, fileni a, martino a, moschini m. Sturgeweber syndrome sws is a neurological disorder marked by a distinctive portwine stain on the forehead, scalp, or around the eye.
The son had congenital glaucoma and the father had simple glaucoma. It is usually caused by an ischemic stroke, typically involving branches of the posterior cerebral artery. Debicka and adamczak 1979 described sturgeweber syndrome in father and son, both of whom had, in addition to trigeminal angiomatous nevi, evidence of central nervous system involvement. This feature is almost always present and usually involves the ophthalmic division v1 of the. Sturgeweber syndrome associated with naevus of ota eye. Sturgeweber syndrome a rare congenital neurological and skin disorder associated with portwine stains of the face, glaucoma, seizures, intellectual disability, and cerebral malformations and tumors. Sturgeweber syndrome fact sheet sturgeweber syndrome sws is a rare neurological and skin disorder characterized by nervous system problems and a permanent birthmark, known as a port wine birthmark pwb, usually on the face.
Its incidence is estimated to be 1 per 20 00050 000 live births. Sturgeweber syndrome neuroretinoangiomatosis phakomatosis, sturgeweber angiomatosis oculoorbitalthalamic syndrome. Anne updates and future horizons on the understanding, diagnosis, and treatment of sturge weber. Weber syndrome is a midbrain stroke syndrome that involves the cerebral peduncle and the ipsilateral fascicles of the oculomotor nerve,5. Sturgeweber syndrome information mount sinai new york. Esta facomatose, tambem conhecida como angiomatose. Sturgeweber syndrome sws is classically associated with facial portwine stain pws in the ophthalmic division of the trigeminal nerve, glaucoma and vascular eye abnormalities, and ipsilateral occipital leptomeningeal angiomata.
It is one of the phakomatoses and is often associated with portwine stains of the face, glaucoma, seizures, intellectual disability, and ipsilateral leptomeningeal angioma cerebral malformations and tumors. Sturge in 1879, it is also known as sturge weber disease, leptomeningofacial angiomatosis, sturgeweberdimitri syndrome, etc 1,2. It has been recently demonstrated by shirely et al that it is caused by a somatic activating mutation. The use of preoperatory percutaneous transcatheter vacular occlusive therapy in the management of sturgeweber syndrome. Sturge was the first person to describe this condition and the other physician frederick parkes weber demonstrated its intracranial calcifications. It is characterized by a congenital facial birthmark and neurological abnormalities. Sturge weber syndrome sws is a neurocutaneous disorder that is associated with facial capillary malformation port wine stain pws, glaucoma, and leptomeningeal angioma in its complete form.
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