Sturgeweber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in gnaq. Sturge weber syndrome, encephalotrigeminal angiomatosis, neurocutaneous syndromes. Summary webers syndrome is one of the classically described brainstem syndromes. Webers syndrome superior alternating hemiplegia is a form of stroke characterized by the presence of an oculomotor nerve palsy and contralateral hemiparesis or hemiplegia. Sws is primarily marked by a facial capillary malformation portwine birthmark in the v1 distribution forehead andor eyelid of the facial region. General objective general objective specific objectives specific objectives to recognize symptoms of sturge weber syndrome. A congenital, but not inherited, disorder that affects the skin, the neurological system, and sometimes the eyes. Weber syndrome departments of dermatology and neurosurgery, daping hospital, third military medical university, chongqing, china ann. Anaesthesia management varied depending on the clinical manifestations which ranged from localized, superficial skin lesions to extensive systemic involvement. Weber syndrome is a midbrain stroke syndrome that involves the cerebral peduncle and the ipsilateral fascicles of the oculomotor nerve,5. 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. Sturge weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in gnaq.
Due to its rarity and complexity, many physicians are unaware of the disease and its complications. Pubmed is a searchable database of medical literature and lists journal articles that discuss mietensweber syndrome. 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. Sturgeweber syndrome sws is a rare, congenital condition involving the brain, skin, and eye. Oct 07, 2019 weber christian disease is rare in adults and even rarer in children. Occasionally the substantia nigra can also be involved 5. We report a series of patients with sturgeweber syndrome anaesthetised on 17 occasions. The mesencephalic artery and the syndromes resulting from. Portwine birthmarks are caused by enlarged blood vessels right underneath the skin. Sws, sturge weber syndrome, encephalotrigeminal angiomatosis, fourth phacomatosis, meningeal capillary. Sturgeweber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth.
Neurological symptoms may include seizures and developmental delay. Sturge weber syndrome sws is a neurological disorder marked by a distinctive portwine stain on the forehead, scalp, or around the eye. It is named after british dermatologist frederick parkes weber, who first described the syndrome in 1907. Kts is the prototype of complex overgrowth disorder associated with vascular anomalies and is the. 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. Gusmao summary webers syndrome is one of the classically described brainstem syndromes. There is no blood test for it, and no list of signs that must be present to decide that a person has sws. 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. Click on the link to view a sample search on this topic. Historically, experts have used a variety of broad definitions for klippeltrenaunay syndrome kts. Clinical practice guidelines for klippeltrenaunay syndrome kts. It is an extremely rare condition, and its exact prevalence is unknown.
Anaesthesia recommendations for patients suffering from. Leptomeningeal angioma are present in 100% of individuals with sturge weber syndrome. Sturgeweber syndrome, or encephalotrigeminal angiomatosis, is a phakomatosis characterised by facial port wine stains and pial angiomas. Weber syndrome definition of weber syndrome by medical. A multidisciplinary consensus for clinical care and research. Weber syndrome, and klippeltrenaunayweber syndrome. Information from the national library of medicines medlineplus sturgeweber syndrome. Sturgeweber syndrome, encephalotrigeminal angiomatosis, neurocutaneous syndromes. Klippeltrenaunay syndrome nord national organization. Oslerweberrendu syndrome owr is a genetic blood vessel disorder that often leads to excessive bleeding.
To discuss the management and treatment and prognosis of. Pdf klippeltrenaunay syndrome and sturgeweber syndrome. Seizures and other neurologic complications are the result of leptomeningeal angioma vascular malformations in the lining of the brain. The syndrome was first described by moritz benedikt 18351920, a. Panniculitis refers to a broad spectrum of diseases that involve inflammation of the subcutaneous fat layer of the skin. Osler weber rendu syndrome owr is a genetic blood vessel disorder that often leads to excessive bleeding. William allen sturge first described the syndrome in 1879 in a child aged 6 and a half years. For example, most people with sws have a portwine stain, but not all people with a portwine stain have sturge weber syndrome. The ninds supports a broad program of research to better understand congenital seizure disorders. 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. It is characterized by a facial portwine stain, leptomeningeal angiomatosis, and glaucoma. Parkes weber syndrome pws is a congenital disorder of the vascular system. 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. Seizures occur in 83% of individuals with sturge weber syndrome and may be extremely difficult to control. 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. Klippeltrenaunay syndrome and sturgeweber syndrome. This stain is a birthmark caused by an overabundance of.
The main sign of sturgeweber syndrome is a port wine stain birthmark. It is associated with an unpredictable clinical course. 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. Weber sign weber syndrome weber, midbrain tegmentum lesion characterized by ipsilateral oculomotor nerve paresis and contralateral paralysis of the. 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. Sturgeweber syndrome genetic and rare diseases information. Sturge weber syndrome sws is a neurocutaneous disorder associated with port wine birthmark, leptomeningeal capillary malformations, and glaucoma. 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. 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. Sturgewebersyndroom sws is een zeldzame aangeboren neurocutane. This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure disorders such as sturgeweber syndrome. An mri is often done to see if the person has too much blood. Sturgeweber syndrome information page national institute.
Jan 18, 2019 sturge weber syndrome sws is a rare disorder affecting the skin and nervous system. 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. If you have problems viewing pdf files, download the latest version of adobe reader. 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. 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 mesencephalic artery and the syndromes resulting from occlusion of its branches have. Sturge weber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. 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. 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. 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. Sturgeweber syndrome is a neurocutaneous brainskin disorder characterized by three features. Anaesthesia and the sturgeweber syndrome pdf paperity. Siegfried kalischer in 1901, and lannoisbernoud in 1898 gave further descriptions.
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