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. Sturgeweber syndrome is also known as fourth phacomatosis motherspot or encephalotrigeminal angiomatosis. Sturgeweber syndrome, encephalotrigeminal angiomatosis, neurocutaneous syndromes. 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. We have treated eight patients with a 585 nm pulsed dye laser. Sturgewebersyndroom sws is een zeldzame aangeboren neurocutane aandoening gekenmerkt. Het sturgeweber syndroom is een aangeboren aandoening van bepaalde bloedvaten. If you have problems viewing pdf files, download the latest version of adobe reader.
For example, most people with sws have a portwine stain, but not all people with a portwine stain have sturgeweber syndrome. Ophthalmologic involvement in sturgeweberkrabbe syndrome swks is present. Inclusief het beleid bij een naevus flammeus in het gelaat. Pdf on oct 5, 2015, mamatha p and others published sturge weber.
Developmental and cognitive impairments are more common in this group. Sturgeweber syndrome sws is a rare, congenital condition involving the brain, skin, and eye. The spectrum of clinical manifestations includes socalled port wine stains, usually affecting one side of the face. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for sturgeweber syndrome. Definition of sturgeweber syndrome in the dictionary. Sturgeweber if a wine stain is present around the eye the area of the first branch of the trigeminal nerve additional research should be done to look at the possibility of sturgeweber syndrome. A case report 1saleem shaikh, 2abdur rahman alatram, 3sachdeva harleen abstract sturge weber syndrome is a neurocutaneous disorder caused by persistence of. Sturge weber syndrome sws is a neurogenetic disease with an incidence of 1 in 20. The klippeltrenaunayweber syndrome is sometimes associated with sws see bonse, 1951 and nonnenmacher, 1955. A congenital, but not inherited, disorder that affects the skin, the neurological system, and sometimes the eyes.
Sturgeweber syndrome sws, also called encephalotrigeminal angiomatosis, is a neurocutaneous disorder with angiomas that involve the leptomeninges leptomeningeal angiomas las and the skin of the face, typically in the ophthalmic v1 and maxillary v2 distributions of the trigeminal nerve. Sturgeweber syndrome sws belongs to a group of disorders known as phakomatoses. Sturgewebersyndrom hamartome, ektoneurodermale neuroektodermaldysplasie, kongenitale neurokutanes syndrom neuroretinoangiomatose phakomatose, sturgeweber angiomatosis encephalofacialis. This is case report of a 18yearold mentally disabled boy. Pdf according to a new, unifying view of the pathogenesis of sturgeweber syndrome and related syndromes, signs and symptoms all arise from localized. The diagnosis is usually obvious on account of a congenital facial cutaneous haemangioma also known as port wine stain or facial naevus flammeus. Sturgeweber syndrome is the third most common neurocutaneous disorder, after neurofibromatosis and tuberous sclerosis, and impacts approximately 1 in 20000 live births. Neurological symptoms may include seizures and developmental delay. At cleveland clinic epilepsy center, we have established a multidisciplinary team of dedicated pediatric.
Sturgeweber syndrome is a rare neurocutaneous syndrome associated with vascular malformations of the face, eyes, and brain. Information and translations of sturgeweber syndrome in the most comprehensive dictionary definitions resource on the web. Epilepsy surgery for rasmussens encephalitis in this section. This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure disorders such as sturgeweber syndrome. Other symptoms associated with sturgeweber can include eye, endocrine and organ irregularities, as well as developmental. These all result from a change early in development affecting the formation of blood vessels in a similar area, and occur on the same side of the body. Sturgeweber syndrome, or encephalotrigeminal angiomatosis, is a phakomatosis characterised by facial port wine stains and pial angiomas. Infants with sturgeweber syndrome are born with port wine stain in the face which can. An mri is often done to see if the person has too much blood.
Medcram medical lectures explained clearly 646,265 views. Sturge in 1879, it is also known as sturge weber disease, leptomeningofacial angiomatosis, sturgeweberdimitri syndrome, etc 1,2. Causes in many people, the cause of sturgeweber is due to a mutation of the gnaq gene. Sturgeweber syndrome classically consists of a facial capillary malformation previously called portwine stain or portwine birthmark, eye abnormalities and brain involvement. Siegfried kalischer in 1901, and lannoisbernoud in 1898 gave further descriptions. There is no blood test for it, and no list of signs that must be present to decide that a person has sws. It is characterized by a congenital facial birthmark and neurological abnormalities. Sturgeweber syndrome sws is a neurocutaneous disorder. Sturgeweber syndrome sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. Sturgeweber syndrome is not inherited, but rather occurs exclusively sporadically, in both males and females and in. The main sign of sturgeweber syndrome is a port wine stain birthmark.
William allen sturge first described the syndrome in 1879 in a child aged 6 and a half years. It has been recently demonstrated by shirely et al that it is caused by a somatic activating mutation. The full text of this article is available in pdf format. Facial capillary malformations port wine birthmarks typically affect skin innervated by the ophthalmic division of the trigeminal nerve, whereas brain vascular malformations leptomeningeal angiomatosis occur mostly in the occipital and posterior parietal. Children with sturgeweber syndrome often develop progressive neurologic problems. These disorders are characterized by hamartomas, which are congenital tumors arising from tissue that is normally found at the involved site. Sturgeweber syndrome is a type of disorder in which at times there is involvement of only one organ structure or there may be involvement of two organ structures at one time. Sturge weber syndrome is a rare syndrome, with an incidence estimated at 1 case in 20,00050,000 persons 11. Het encore sturge weber syndroom expertise centrum. Sturgeweber syndrome and secondary glaucoma american. Sturgeweber syndrome definition at, a free online dictionary with pronunciation, synonyms and translation.
Caution patients with sturgeweber syndrome, who have earlier age of seizure onset, may have a change in their seizure types over time, with the emergence of epileptic spasms or generalized seizure types, such as atypical absence, atonic and tonic seizures. For language access assistance, contact the ncats public information officer. Sturgeweber syndrome cincinnati childrens hospital. This feature is almost always present and usually involves the ophthalmic division v1 of the. A child with this condition will have a portwine stain birthmark usually on the face and may have nervous system problems. In addition, people with sws have abnormal growth of blood vessels within the tissue that covers the brain and spinal cord leptomeningeal angioma. 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. Sturgeweber syndrome research the sturgeweber 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. Sturgeweber syndrome is diagnosed based on an identification of the characteristic symptoms of the disease, a detailed patient history, and a thorough clinical evaluation. Tuberous sclerosis complex focal cortical dysplasia hemimegalencephaly rasmussens encephalitis sturgeweber. Sturgeweber syndrome genetic and rare diseases information. The vbf sturgeweber syndrome chapter provides support and services freely and upon a volunteer basis for individuals and families living with sws an vascular birthmarks, while sponsoring research and promoting physician education and awareness, as well as education of the public at large. Sturgeweber syndrome sws is a neurocutaneous syndrome, characterized by the association of facial portwine hemangiomas in the trigeminal nerve distribution area, with vascular malformations.
Montes ana milena, toro ana milena, arredondo maria isabel, arroyave juan esteban, vasquez luz adriana, molina veronica. Sturgeweber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. The son had congenital glaucoma and the father had simple glaucoma. The sturge weber syndrome program at cleveland clinic. Sturgeweber syndrometreatmentlife expectancyprognosis. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Sturgeweber syndrome sws, also called encephalotrigeminal angiomatosis, is a neurocutaneous disorder with angiomas that involve the leptomeninges leptomeningeal angiomas las and the skin of the face, typically in the ophthalmic v1. Sturgeweber syndrome is a rare syndrome, with an incidence estimated at 1 case in 20,00050,000 persons 11 clinical presentation. Parkes weber in 1922 demonstrated the intracranial calcifications, vincente dimitri in 1923, and krabbe in 1934 each contributed to the knowledge of the complete syndrome. The ninds supports a broad program of research to better understand congenital seizure disorders.
Sturgeweber syndrome sws encephelotrigeminal angiomatosis is a congenital, nonfamilial disorder caused by the gnaq gene mutation. Sturgeweber syndromesturgeweber syndrome sws is a rare condition, in which the presence of a. Sturgeweber syndrome is a neurocutaneous disorder classically presenting with a facial portwine birthmark, vascular eye abnormalities, and an ipsilateral occipital leptomeningeal angioma. Sturge weber syndrome sws is a rare, nongenetic condition resulting from abnormal development of blood vessels of the skin, eyes and brain. Cette triade a dabord ete ecrite par sturge en 1897 puis weber en a decrit les signes radiologiques en 1922. Sturgeweber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. The less common form, which can be difficult to diagnose and only involves leptomeningeal. Port wine stain of sturge weber syndrome represents a cosmetic prejudice with social consequences. To confirm a diagnosis, various imaging techniques can be used to assess the nuerological complications of sturgeweber syndrome. The color can range from dark red to light pink and it is usually found on one side of the face. Sturgeweber syndrome encephalotrigeminal angiomatosis. Sturgeweber syndrome sturgeweber syndrome sws is a neurocutaneous disorder one that affects the brain and skin identifiable by the portwine stain known as an angioma.
It usually occurs sporadically although it occasionally is found. The challenges of epilepsy surgery in a patient with sturge weber syndrome are complex but surmountable in the hands of experienced epilepsy specialists and surgeons working as a team. Sturge weber syndrome is a neurocutaneous condition characterized by facial port wine stain, seizures and other neurologic complications associated with angiomata of the leptomeninges, and glaucoma. Babies with sturgeweber syndrome sws are born with a facial birthmark known as a portwine stain. The diagnosis is usually obvious on account of a congenital facial cutaneous hemangioma also known as port wine stain or facial nevus flammeus. This syndrome may be present in the brain or vascular malformations in the eye. Sws is primarily marked by a facial capillary malformation portwine birthmark in the v1 distribution forehead andor eyelid of the facial region. Sturgeweber syndrome sws is a rare disorder that is present at birth. 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.
124 1546 495 1429 1226 925 188 913 242 206 685 455 659 1219 131 1418 1157 632 350 830 1485 363 519 1111 639 1383 337 1266 691 173 737 283 214 723 907 664 1198 425 630 1089 1042 1180 367 165 507 35