Sturgeweber syndrome encephalotrigeminal or leptomeningeal. Babies with sws are born with a birthmark on their face known as a portwine stain. Portwine birthmarks are caused by enlarged blood vessels right underneath the skin. Sturgeweber syndrome is a neurocutaneous syndrome that occurs in 1 in 50,000 people. It has a vast continuum of cutaneous, neurologic, ophthalmic and oral manifestations. Sturgeweber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. Sturgeweber syndrome information page national institute. Characterized by corticocerebral angiomatosis, brain calcification, epilepsy, ocular alterations, mental retardation and facial nevus with color of wine port in the face. Sturge weber syndrome nord national organization for rare.
The disease is characterized by an intracranial vascular. Maria, md, mba sturge weber syndrome is a rare disorder that occurs with a frequency of approximately 1 per 50,000. Dimitri v 1923 tumor cerebral congenito angioma cavernoso. Kalischer, german physician, provided further insights in the disease. A patient with sturge weber dimitri disease presented with intractable seizures and progressive intellectual deterioration.
Krabbe is credited for correlating intracortical calcifications with gyriform calcifications on simple xray skull and hence also popularly called as krabbe syndrome, sturge weber dimitri syndrome. Dimitri described the characteristic double contoured. Correction of facial deformity in sturgeweber syndrome. There was no facial nevus or focal neurologic abnormality. Portwine stains are the most common type of vascular malformation, affecting approximately three in infants, but most are not associated with sturge. The authors describe and analyse clinical and imaging features of this syndrome, through a retrospective study of patients 8 girls. Lo warren, marchuk douglas, ball karen l, juh csaba, jordan lori, ewen joshua, comi. If you have problems viewing pdf files, download the latest version of adobe reader. Here we present an unusual case of sturgeweber syndrome with osseous hypertrophy of maxilla. These files will have pdf in brackets along with the filesize of the download. Abstract sturgeweber syndrome is a rare developmental neuroectodermical disorder. 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.
Seizures and other neurologic complications are the result of leptomeningeal angioma vascular malformations in the lining of the brain. The syndrome of sturgeweber is a rare condition of congenital. The aim of this work is shown the principal features of the. Sturgeweber syndrome is characterised by vascular malformations on the face and in the eye and brain of affected individuals. 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. From ghr sturge weber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. Lowdose aspirin has been shown to decrease the frequency and severity of seizures and strokelike episodes in sturgeweber syndrome. Sturgeweber syndrome sws, also called encephalotrigeminal angiomatosis, is a neurocutaneous disorder with angiomas that involve the. Histopathology of the brain revealed extensive calcification of vessel wall in parietooccipital cortices. 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.
The interest of this syndrome for pediatric neurosurgeons is mainly related to the association of sws with epilepsy in 7590% of the cases. Sturge weber syndrome is a rare, congenital, neurooculocutaneous disorder which is characterised extraorally by unilateral port wine stains on the face, glaucoma, seizures and mental. Sturgeweber syndrome is a rare nonhereditary developmental condition with neurological and skin disorder, characterized by presence of port wine stain on the face along with ocular disorders, oral manifestations and leptomeningeal angiomas. The sturgeweber syndrome, also known as encephalotrigeminal angiomatosis, is a rare vascular neurocutaneous alteration. It usually occurs sporadically although it occasionally is found. Clinical spectrum, disease course, and outcome of 30 patients. Sturge weber syndrome sws is a rare disorder affecting the skin and nervous system. Sturge weber syndrome is a rare disorder that occurs with a frequency of approximately 1 per 50,000. Sturge weber syndrome sws is a rare disorder characterized by the association of a facial birthmark called a portwine birthmark, neurological abnormalities, and eye abnormalities such as glaucoma. It is characterized by a facial portwine stain, leptomeningeal angiomatosis, and glaucoma. 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. Sturgeweber syndrome is a rare disorder that occurs with a frequency of approximately 1 per 50,000.
Sturgekalischerweber dimitri syndrome usually abbreviated to sturge weber syndrome sws. Sturge weber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. Sturgeweber syndrome is a neurocutaneous disorder that presents with a facial capillary malformation port wine birthmark, abnormal blood vessels on the surface of the brain leptomeningeal angioma, and glaucoma. Crosley c, binet e 1978 sturgewebersyndrome, presentation as a focal seizure disorder without nevus flammeus.
Sturgeweber syndrome and secondary glaucoma eyewiki. Leptomeningeal angioma are present in 100% of individuals with sturge weber syndrome. Sturgeweber syndrome genetic and rare diseases information. Anne updates and future horizons on the understanding, diagnosis, and treatment of sturge weber. A port wine stain is a vascular birthmark caused by abnormal. Sturge weber syndrome is a rare non hereditary congenital sporadic disorder of elusive etiology. Frederick parkes weber, also an english physician, deserves credit for the description of intracranial calcifications in 1922. Seizures occur in 83% of individuals with sturge weber syndrome and may be extremely difficult to control. Introduction the sturge weber syndrome sws or encephalotrigeminal angiomatosis, or even craniofacial angiomatosis, is specifically congenital, nonhereditary condition of rare development 1,2, although the literature presents case reports inherited in an autosomal recessive and dominant manner 3, namely of unknown etiology, marked by angiomas involving the leptomeninges and the facial. Sturge in 1879, it is also known as sturge weber disease, leptomeningofacial angiomatosis, sturge weber dimitri syndrome, etc 1,2. Sturgeweber syndrome and isolated port wine birthmarks are caused by a somatic mutation in the gnaq gene. Sturge weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in gnaq. The disease is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. Prolonged and frequent seizures in infants and young children contribute to neurologic decline.
It is named after british dermatologist frederick parkes weber, who first described the syndrome in 1907. Sturgeweber syndrome, or encephalotrigeminal angiomatosis, is a phakomatosis characterized by facial port wine stains and pial angiomas. Sws can be thought of as a spectrum of disease in which individuals may have abnormalities affecting all three of these systems i. Jan 18, 2019 sturge weber syndrome sws is a rare disorder affecting the skin and nervous system. Pws that spares ophthalmic trigeminal distribution is usually not indicative of underlying sturgeweber syndrome. Kalischer, german physician, provided further insights in. Sturge weber syndrome sws is a rare sporadic neurocutaneous disorder with a reported incidence of 150,000. Media in category sturge weber syndrome the following 2 files are in this category, out of 2 total. Parkes weber syndrome pws is a congenital disorder of the vascular system. It is characterized by a facial portwine stain, leptomeningeal angiomatosis, and. The syndrome of sturge weber is a rare condition of congenital development, and is characterized by a neurocutaneous disorder with angiomas wrapping the leptomeninges and the face. Weber, dimitri and wissing described the typical gyriform calcifications observed on plain x ray skull. Seizures are resistant to medical treatment in almost 60% of. When abnormalities such as vascular malformation, capillary.
Unilateral nevus flammeus in an infant with 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. A case report 1saleem shaikh, 2abdur rahman alatram, 3sachdeva harleen abstract sturge weber syndrome is a neurocutaneous disorder caused by persistence of. To discuss the management and treatment and prognosis of patients diagnosed with the sturge weber syndrome. Sturgeweber syndrome with osteohypertrophy of maxilla.
Routine dental procedures are associated with increased jeopardy of hemorrhage making treatment in such patients an exigent task for oral health care practitioners. Sturgeweber syndrome sws is a rare disorder characterized by the. Jun 01, 2017 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. Jul 17, 2014 sturgeweber syndrome fact sheet sturge weber 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. It is an extremely rare condition, and its exact prevalence is unknown. To open a pdf file you will need compatible software such as adobe reader. The syndrome of sturge weber is a rare condition of congenital development, and is characterized by a neurocutaneous disorder with angiomas wrapping the leptomeninges and the face skin, mainly in the course of ophthalmic v1 and maxillary v2 branches of the trigeminal nerve. It is characterized by a facial portwine stain and a leptomeningeal angiomata, frequently localized ipsilateral to the facial portwine stain. If you do not have it you can download adobe reader free of charge. Sturge weber, convulsion, angioma, leptomeninges, nevus. Sturge weber syndrome is a rare neurocutaneous syndrome in which the severity is determined by degree of brain involvement and control of epilepsy.
The clinic files with diagnosis of glaucoma associated to sturge weber syndrome with a follow up greater. The disease is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often in. Millerkeane encyclopedia and dictionary of medicine. Pdf most of the documents on the racgp website are in portable document format pdf. The sturge weber disease is a few condition of development, not hereditary featured of harmatomatous vascular proliferation, involve the tissues of brain and face. General objective general objective specific objectives specific objectives to recognize symptoms of sturge weber syndrome.
Ct disclosed bilateral calcification in a parietooccipital gyral pattern. The sturgeweber syndrome sws or encephalotrigeminal angiomatosis, or even. Sturgeweber syndrome sws is a rare neurocutaneous syndrome the main clinical features of which are facial, mostly unilateral nevi, leptomeningeal angiomatosis, and congenital glaucoma. The sturge weber syndrome sws is a rare congenital disorder that. Jan 01, 1987 the sturgeweber syndrome sws, also known as encephalotrigeminal angiomatosis, encephalofacial angiomatosis, angioencephalocutaneous syndrome, vascular neurooculocutaneous syndrome, or sturge kalischer weber syndrome, is a congenital malformation of cephalic venous microvasculature. Encephalotrigeminal angiomatosis sturge weber syndrome is a rather uncommon.
481 1061 83 32 1647 1369 575 497 1664 662 241 775 1784 1575 690 964 646 947 167 645 1028 25 47 1401 1039 1116 184 515 328 589 1575