Sturgeweber syndrome, or encephalotrigeminal angiomatosis, is a phakomatosis characterised by facial port wine stains and pial angiomas. The main sign of sturgeweber syndrome is a port wine stain birthmark. It is caused by midbrain infarction as a result of occlusion of the paramedian branches of the posterior cerebral artery or of basilar bifurcation perforating arteries. Webers syndrome is characterized by a third nerve palsy associated with contralateral hemiparesis because of a damage to the cerebral peduncle, due to multiple etiologies. Summary webers syndrome is one of the classically described brainstem syndromes. Sws is primarily marked by a facial capillary malformation portwine birthmark in the v1 distribution forehead andor eyelid of the facial region.
An mri is often done to see if the person has too much blood. Information from the national library of medicines medlineplus sturgeweber syndrome. Using imaging alone, it is difficult to distinguish benedikt syndrome from weber syndrome, unless clear involvement of the red nucleus can be identified, which is seen in the former 14. Sturgewebersyndroom sws is een zeldzame aangeboren neurocutane.
Klippeltrenaunay syndrome kts is a rare disorder that is present at birth congenital and is characterized by a triad of cutaneous capillary malformation portwine stain, lymphatic anomalies, and abnormal veins in association with variable overgrowth of soft tissue and bone. In most cases, it involves only one extremity with arteriovenous malformation and approximately 75% of patients manifest the disease before 10 years of age 2, 3. It is associated with an unpredictable clinical course. Click on the link to view a sample search on this topic. Klippeltrenaunay syndrome formerly klippeltrenaunayweber syndrome and sometimes angioosteohypertrophy syndrome and hemangiectatic hypertrophy, is a rare congenital medical condition in which blood vessels andor lymph vessels fail to form properly. Oct 07, 2019 weber christian disease is rare in adults and even rarer in children.
Parkes weber syndrome pws is a congenital disorder of the vascular system. Jan 18, 2019 sturge weber syndrome sws is a rare disorder affecting the skin and nervous system. Sturge weber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. Portwine birthmarks are caused by enlarged blood vessels right underneath the skin. Oslerweberrendu syndrome owr is a genetic blood vessel disorder that often leads to excessive bleeding.
It is named after british dermatologist frederick parkes weber, who first described the syndrome in 1907. Sturgeweber syndrome, encephalotrigeminal angiomatosis, neurocutaneous syndromes. Seizures occur in 83% of individuals with sturge weber syndrome and may be extremely difficult to control. Klippeltrenaunay syndrome nord national organization.
Siegfried kalischer in 1901, and lannoisbernoud in 1898 gave further descriptions. The mesencephalic artery and the syndromes resulting from. Sturgeweber syndrome genetic and rare diseases information. This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure disorders such as sturgeweber syndrome. Sws, sturge weber syndrome, encephalotrigeminal angiomatosis, fourth phacomatosis, meningeal capillary. 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. Klippeltrenaunay syndrome and sturgeweber syndrome. Sws, sturge weber syndrome, encephalotrigeminal angiomatosis, fourth phacomatosis, meningeal capillary angiomatosis, leptomeningeal angiomatosis, encephalofacial angiomatosis, sws type i facial and leptomeningeal angiomas, sws type ii facial angioma alone, no cns involvement, sws type iii isolated leptomeningeal angiomas. The ninds supports a broad program of research to better understand congenital seizure disorders. To discuss the management and treatment and prognosis of. Weberchristian disease is an eponym for a form of panniculitis, idiopathic nodular panniculitis, which is characterized by subcutaneous nodules, inflammatory cells in the fat lobules, and systemic symptoms. No case exhibiting so many interrelated abnormalities as were. Sturge weber syndrome sws is a neurological disorder marked by a distinctive portwine stain on the forehead, scalp, or around the eye. General objective general objective specific objectives specific objectives to recognize symptoms of sturge weber syndrome.
Weber syndrome is a midbrain stroke syndrome that involves the cerebral peduncle and the ipsilateral fascicles of the oculomotor nerve,5. The mesencephalic artery and the syndromes resulting from occlusion of its branches have. Osler weber rendu syndrome owr is a genetic blood vessel disorder that often leads to excessive bleeding. Brain surgery involving removing the portion of the brain that is affected by the disorder can be successful in controlling the seizures so that the patient has only a few seizures that are much less intense than presurgery. Sturgeweber syndrome information page national institute. A multidisciplinary consensus for clinical care and research. Weber sign weber syndrome weber, midbrain tegmentum lesion characterized by ipsilateral oculomotor nerve paresis and contralateral paralysis of the. Gusmao summary webers syndrome is one of the classically described brainstem syndromes. Anaesthesia management varied depending on the clinical manifestations which ranged from localized, superficial skin lesions to extensive systemic involvement. A congenital, but not inherited, disorder that affects the skin, the neurological system, and sometimes the eyes.
Historically, experts have used a variety of broad definitions for klippeltrenaunay syndrome kts. Anaesthesia and the sturgeweber syndrome pdf paperity. Weber syndrome, and klippeltrenaunayweber syndrome. Leptomeningeal angioma are present in 100% of individuals with sturge weber syndrome. If you have problems viewing pdf files, download the latest version of adobe reader. Weber s syndrome is characterized by a third nerve palsy associated with contralateral hemiparesis because of a damage to the cerebral peduncle, due to multiple etiologies. Babies with sws are born with a birthmark on their face known as a portwine stain. Occasionally the substantia nigra can also be involved 5. Pubmed is a searchable database of medical literature and lists journal articles that discuss mietensweber syndrome. Weber syndrome departments of dermatology and neurosurgery, daping hospital, third military medical university, chongqing, china ann.
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. Webers syndrome superior alternating hemiplegia is a form of stroke characterized by the presence of an oculomotor nerve palsy and contralateral hemiparesis or hemiplegia. Sturgeweber syndrome is a neurocutaneous brainskin disorder characterized by three features. Sturgeweber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in gnaq. The syndrome of sturgeweber 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. We report a series of patients with sturgeweber syndrome anaesthetised on 17 occasions. Weber s syndrome, also known as superior alternating hemiplegia, is a form of stroke characterized by the presence of an ipsilateral oculomotor nerve palsy and contralateral hemiparesis or hemiplegia. It is an extremely rare condition, and its exact prevalence is unknown. Sturge weber syndrome, encephalotrigeminal angiomatosis, neurocutaneous syndromes. For example, most people with sws have a portwine stain, but not all people with a portwine stain have sturge weber syndrome. Clinical practice guidelines for klippeltrenaunay syndrome kts.
Sturgeweber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. This stain is a birthmark caused by an overabundance of. Pdf klippeltrenaunay syndrome and sturgeweber syndrome. Due to its rarity and complexity, many physicians are unaware of the disease and its complications. Seizures and other neurologic complications are the result of leptomeningeal angioma vascular malformations in the lining of the brain.
It is characterized by a facial portwine stain, leptomeningeal angiomatosis, and glaucoma. Kts is the prototype of complex overgrowth disorder associated with vascular anomalies and is the. Sturge weber syndrome sws is a neurocutaneous disorder associated with port wine birthmark, leptomeningeal capillary malformations, and glaucoma. Neurological symptoms may include seizures and developmental delay. There is no blood test for it, and no list of signs that must be present to decide that a person has sws. Panniculitis refers to a broad spectrum of diseases that involve inflammation of the subcutaneous fat layer of the skin. Webers syndrome, also known as superior alternating hemiplegia, is a form of stroke characterized by the presence of an ipsilateral oculomotor nerve palsy and contralateral hemiparesis or hemiplegia. The term klippeltrenaunay weber was once used to describe patients with features of kts along with arteriovenous fistulas, when this in fact represented a distinct disorder now called parkes weber syndrome. Anaesthesia recommendations for patients suffering from. Sturgeweber syndrome sws is a rare, congenital condition involving the brain, skin, and eye. 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. Sturge weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in gnaq. The syndrome was first described by moritz benedikt 18351920, a.
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