In the body, the vascular system consists of arteries, veins and capillaries. Sturge weber syndrome and portwine stains n engl j med 368. The main sign of sturge weber syndrome is a port wine stain birthmark. The characteristic manifestations of sws are leptomeningeal. Taysachs disease an autosomal recessive lipid storage disorder caused by a deficiency of the enzyme hexosaminidase a which leads to an accumulation of gm2 ganglioside a fatty acid derivative in the ganglion cells of both the retina and the brain. Sturge weber syndrome affects the skin and the neurological system, and it can lead to glaucoma. Some diseases are acute, producing severe symptoms that. The anatomical basis for sturgeweberdimitri syndrome is a hemangiomatous dysplasia in the cephalic region. Sturgeweber syndrome sws is a neurological disorder marked by a distinctive portwine stain on the forehead, scalp, or around the eye. Sturgeweber syndrome and portwine stains caused by.
Sws is a severe neurocutaneous syndrome, which involves a facial portwine stain reaching the first branch of trigeminal nerve v1, ophthalmologic abnormalities especially congenital glaucoma and neurologic signs seizure, mental retardation, hemiparesis. Sws is primarily marked by a facial capillary malformation portwine birthmark in the v1 distribution forehead andor eyelid of the facial region. Blood vessels on the same side of the brain as the stain may also be affected. The birthmark can vary in color from light pink to deep purple, and is caused by an overabundance of capillaries around the ophthalmic branch of the trigeminal nerve, just beneath the surface of the f. Sturge in 1879, it is also known as sturge weber disease, leptomeningofacial angiomatosis, sturgeweberdimitri syndrome, etc 1,2. Parkes weber syndrome pws is a congenital disorder of the vascular system. The new engl and journal of medicine n engl j med 368. Sturge weber syndrome nord national organization for rare.
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. 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 encephalotrigeminal or leptomeningeal. This stain is a birthmark caused by an overabundance of. Prolonged and frequent seizures in infants and young children contribute to neurologic decline. Sturgekalischerweber syndrome definition of sturge. We exist to improve the quality of life and care for people with sturge weber syndrome and associated port wine birthmark conditions.
Sturgeweber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. Sturgekalischerweberdimitri syndrome usually abbreviated to sturgeweber syndrome sws, sometimes called the fourth phakomatosis, is characterised by naevus flammeus of the face and angioma of the meninges. 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. Since portwine nevi are frequently found also on the trunk and extremities, the syndrome may be considered as a partial or regional manifestation of generalized neurocutaneous hemangiomatosis. Sturge weber syndrome is a form of neurological disorder that is indicated at the time of a persons birth by seizure activity as well as a large portwine stain birthmark on the forehead and upper eyelid of one side of the persons face. Portwine stains result from a vascular disorder rather than a. The birthmark may vary in color from deep purple to light pink and is. The charity exists to support those affected by sturge weber syndrome, promote research into the condition and raise awareness of the condition amongst both public and professionals.
It is characterized by a congenital facial birthmark and neurological abnormalities. Siegfried kalischer in 1901, and lannoisbernoud in 1898 gave further descriptions. Cranial ct and mr in the klippeltrenaunayweber syndrome. References in the icd10cm index to diseases and injuries applicable to the clinical term sturge weber dimitri kalischer disease or syndrome. Sturgeweber syndrome sws is a rare disorder characterized by the. This report describes the intracranial ct and mr findings in two cases of klippeitrenaunay weber syndrome. We support them with collaborative education and advocacy in tandem with translational research as we. These disorders are characterized by hamartomas, which are congenital tumors arising from tissue that is normally found at the involved site. Sturge weber syndrome and isolated portwine birthmarks are caused by a somatic mutation in the gnaq gene. Sturge weber syndrome sws is a neurological disorder marked by a distinctive portwine stain on the forehead, scalp, or around the eye. Sturgeweberdimitri disease definition of sturgeweber. Sturge weber syndrome sws is a neurocutaneous disorder presenting with a facial portwine stain, along with an occipital leptomeningeal angiomatosis that is typically located ipsilateral to the stain.
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 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. Sturge weber syndrome sws is a rare neurocutaneous syndrome the main clinical features of which are facial, mostly unilateral nevi, leptomeningeal angiomatosis, and congenital glaucoma. Sturge weber syndrome is a rare non hereditary congenital sporadic disorder of elusive etiology. According to a new, unifying view of the pathogenesis of sturge weber syndrome and related syndromes, signs and symptoms all arise from localized primary venous dysplasia, with effects of venous hypertension transmitted to nearby areas via persisting communicating venous passageways and compensatory collateral venous channels. Lowdose aspirin has been shown to decrease the frequency and severity of seizures and strokelike episodes in sturge weber syndrome.
They include several distinct forms that have in common developmental anomalies of neural and other ectodermal structures. Sturgeweber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. Enable javascript to view the expandcollapse boxes. It is an extremely rare condition, and its exact prevalence is unknown. 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 retardation, and intraorally by ipsilateral gingival haemangioma which frequently affects the maxilla or mandible.
Information from the national library of medicines medlineplus sturge weber syndrome. It is named after british dermatologist frederick parkes weber, who first described the syndrome in 1907. Sturgeweber syndrome sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. Sturge weber syndrome is indicated at birth by seizures accompanied by a large portwine stain birthmark on the forehead and upper eyelid of one side of the face. Sturgeweber syndrome occurs at a frequency of approximately 1 per 50,000 people. It has a vast continuum of cutaneous, neurologic, ophthalmic and oral manifestations. Sturge weber syndrome and portwine stains caused by. The ninds supports a broad program of research to better understand congenital seizure disorders. The child began having seizures at 7 months of age. Sturge weber syndrome is a rare neuro cutaneous syndrome with estimated incidence of 1 in 20000 to 1 in 50000 live births 916.
Sturgeweberdimitri syndrome and language request pdf. Sturge weber syndrome sws is a rare disorder affecting the skin and nervous system. Jan 18, 2019 sturge weber syndrome sws is a rare disorder affecting the skin and nervous system. Sturge weber uk swuk, formerly sturge weber foundation uk, is a volunteer run registered charity formed in 1990. The aim of this work is shown the principal features of the sturge weber syndrome in one patient with bilateral nevus in the face and scalp. Sturgeweber syndrome and secondary glaucoma american. To discuss the management and treatment and prognosis of patients diagnosed with the sturge weber syndrome. Photographs of a participant with the sturge weber syndrome patient 36, obtained at birth, show a facial portwine stain with a leftsided v1 distribution panels a and b. What is the life expectancy of someone with sturge weber. Sturgeweberdimitri disease article about sturgeweber. Sturge weber syndrome is a rare neurocutaneous syndrome associated with vascular malformations of the face, eyes, and brain.
Sturge weber syndrome, encephalotrigeminal angiomatosis, neurocutaneous syndromes. Pdf sturgeweber syndrome encephalotrigeminal angiomatosis is an uncommon neurocutaneous disorder. This is case report of a 18yearold mentally disabled boy. Natural history and magnetic resonance imaging followup in 9 sturgeweber syndrome patients and clinical correlation. 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 sws, also known as encephalotrigeminal angiomatosis, is a sporadic neurocutaneous disorder that affects the meninges most often the pia mater and acrachnoid mater of the brain and the skin of the face. Sturgeweber syndrome with osteohypertrophy of maxilla. Sturge weber syndrome sws is a rare congenital neurocutaneous disorder of unknown cause. Other symptoms associated with sturgeweber can include eye and. Sturge weber syndrome sws is a neurocutaneous syndrome, characterized by the association of facial portwine hemangiomas in the trigeminal nerve distribution area, with vascular malformations. In recent years a number of reports have appeared of a condition variously designated as the sturge weber syndrome, kalischer dimitri disease or brushfieldwyatt disease.
Sturge in 1879, it is also known as sturge weber disease, leptomeningofacial angiomatosis, sturge weber dimitri syndrome, etc 1,2. Sturgeweber syndrome sws is a rare congenital neurocutaneous disorder. 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 lobes. The diagnosis is usually obvious on account of a congenital facial cutaneous hemangioma also known as port wine stain or facial nevus flammeus. In the present case, a 15yearold female patient presented. Sturgeweber syndrome sws, also known as sturge weber dimitri syndrome, encephalotrigeminal angiomatosis or meningofacial angiomatosis, is a rare developmental neurocutaneous disorder that results from dysgenesis of the neural crest in embryologic life. Wikipedia is hosted by the wikimedia foundation, a nonprofit organization that also hosts a range of other projects. This stain is a birthmark caused by an overabundance of capillaries near the surface of the skin. Neural cutaneous syndromes constitute a rather heterogeneous group from a clinical standpoint. Sturgeweber syndrome genetic and rare diseases information. Sturge weber syndrome sws is a rare congenital neurocutaneous disorder characterized by facial capillary malformations andor cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies. This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure disorders such as sturgeweber syndrome. Serao comentadas caracteristicas clinicas, anatomopatologicas e diagnostico diferencial.
Sturge weber syndrome and portwine stains caused by somatic. William allen sturge first described the syndrome in 1879 in a child aged 6 and a half years. Download wikipedia for android or ios save your favorite articles to read offline, sync your reading lists across devices and customize your reading experience with the official wikipedia app. General objective general objective specific objectives specific objectives to recognize symptoms of sturge weber syndrome. Sturge weber syndrome type ii is distinct from isolated portwine stain and is associated with cerebral blood flow abnormalities, headaches, and other complications. Developmental and cognitive impairments are more common in this group. Sturge weber syndrome sws is a rare, congenital condition involving the brain, skin, and eye. Sturge weber dimitri disease synonyms, sturge weber dimitri disease pronunciation, sturge weber dimitri disease translation, english dictionary definition of sturge weber dimitri disease. Sturge weber syndrome is a rare syndrome, with an incidence estimated at 1 case in 20,00050,000 persons 11 clinical presentation. Cranial ct and mr in the klippeltrenaunay weber syndrome daniel w. 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.
Babies with sws are born with a birthmark on their face known as a portwine stain. Dec 26, 2018 sturge weber 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. It is also known as sturge weber disease, leptomeningofacial angiomatosis, and sturge weber dimitri syndrome. To be commented clinical characterists, anatomopathologics and diferential diagnosis. Sturge weber dimitri kalischer disease or syndrome references in the icd10cm index to diseases and injuries. Sturge weber syndrome definition syndrome characterized by a naevus flammeus in the distribution of the first branch of the trigeminal nerve associated with a vascular malformation of the ipsilateral meninges and cerebral cortex. We exist to improve the quality of life and care for people with sturgeweber syndrome and associated port wine birthmark conditions. Here we present an unusual case of sturge weber syndrome with osseous hypertrophy of maxilla. Dermis sturgeweber syndrome information on the diagnosis.
It is characterized by a facial portwine stain and an ipsilateral leptomeningeal angioma. Facial portwine stains are capillary malformations, which can reveal, very rarely, sturge weber syndrome sws. A noninherited congenital condition with vascular and neurological abnormalitiesit is characterized by facial vascular nevi portwine stain, and capillary angiomatosis of intracranial membranes meninges. Cronemberger s, calixto n, assuncao dam, milhomens. We support them with collaborative education and advocacy in tandem with translational research as we promote effective management and awareness. Dimitri v 1923 tumor cerebral congenito angioma cavernoso. Weber dimitri syndrome symptoms, causes, diagnosis, and treatment information for weber dimitri syndrome sturge weber syndrome with alternative diagnoses, fulltext book chapters, misdiagnosis, research treatments, prevention, and prognosis. Neurological symptoms may include seizures and developmental delay. Sturge weber 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. Sturge weber dimitri syndrome symptoms, causes, diagnosis, and treatment information for sturge weber dimitri syndrome sturge weber syndrome with alternative diagnoses, fulltext book chapters, misdiagnosis, research treatments, prevention, and prognosis. Sturgeweber syndrome sws is a rare, congenital condition involving the brain, skin, and eye. The ct and mr features of cortical calcification and meningeal angiomatosis are typical of sturge weber dimitri disease but are unusual in children less than 1 year of age. The average life expectancy of a person with sturge weber syndrome can be different in each patient and depends mainly on the severity of the disease, although most cases are quite mild and have a life expectancy similar to that of the general population. Sturgeweber syndrome sws belongs to a group of disorders known as phakomatoses.