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Seminars in Pediatric Neurology Dec 2015Sturge-Weber syndrome is a vascular malformation syndrome consisting of a facial port-wine birthmark associated with malformed leptomeningeal blood vessels and a choroid... (Review)
Review
Sturge-Weber syndrome is a vascular malformation syndrome consisting of a facial port-wine birthmark associated with malformed leptomeningeal blood vessels and a choroid "angioma" of the eye. It is a rare neurocutaneous disorder that occurs sporadically, is not inherited, and is caused by a somatic mosaic mutation in GNAQ. In patients with Sturge-Weber syndrome, brain involvement typically presents in infancy with seizures, strokes, and stroke-like episodes, and a range of neurologic impairments. Standard treatment includes laser therapy for the birthmark, control of glaucoma through eyedrops or surgery, and the use of anticonvulsants. Increasingly low-dose aspirin is offered. Treatment with propranolol has been tried generally without the dramatic results seen in hemangiomas. Treatment with an anticonvulsant or low-dose aspirin or both before the onset of seizures is an option. Surgical resection may be offered to those whose seizures are medically refractory. Endocrine, medical rehabilitation and cognitive comorbidities are important to manage. In the future, new therapeutic options are likely to be offered stemming from preclinical studies and small pilot clinical trials currently ongoing. Discovery of the causative somatic mosaic mutation suggests new insights into the pathophysiology of this vascular malformation disorder, and potential novel treatment strategies for future study. The mutation results in constitutive overactivation of the Ras-Raf-MEK-ERK and the HIPPO-YAP pathways and inhibitors of these pathways may in the future prove useful in the treatment of Sturge-Weber syndrome.
Topics: Humans; Sturge-Weber Syndrome
PubMed: 26706016
DOI: 10.1016/j.spen.2015.10.005 -
Zhurnal Nevrologii I Psikhiatrii Imeni... 2019Sturge-Weber syndrome belongs to the group of phacomotoses and is characterized by a combined lesion of the skin, eyes, nervous system and internal organs. The clinical... (Review)
Review
Sturge-Weber syndrome belongs to the group of phacomotoses and is characterized by a combined lesion of the skin, eyes, nervous system and internal organs. The clinical course of Sturge-Weber syndrome is quite diverse. Of particular interest in the practice of pediatric neurology and neurosurgery is the fact that 72-90% of patients present with epilepsy. Of particular difficulty is the differential diagnosis of epileptic seizures and stroke-like episodes. The article presents clinical cases of patients with Sturge-Weber syndrome of various ages with epileptic seizures and transient ischemic attacks.
Topics: Child; Diagnosis, Differential; Epilepsy; Humans; Seizures; Stroke; Sturge-Weber Syndrome
PubMed: 32207732
DOI: 10.17116/jnevro201911911255 -
Journal of the American Academy of... Nov 1999
Topics: Humans; Sturge-Weber Syndrome
PubMed: 10534644
DOI: 10.1016/s0190-9622(99)70016-2 -
Orbit (Amsterdam, Netherlands) Feb 2017The management of blind, painful eyes in Sturge-Weber syndrome patients poses unique challenges to the oculoplastic surgeon. Intraocular and orbital vascular... (Review)
Review
The management of blind, painful eyes in Sturge-Weber syndrome patients poses unique challenges to the oculoplastic surgeon. Intraocular and orbital vascular malformations and calcification may theoretically lead to unexpected hemorrhage and difficulty placing an implant in a calcified scleral shell. We present two cases of patients with Sturge-Weber syndrome with blind, painful eyes who underwent evisceration with silicone implant and discuss the relevant current literature. Both of our patients had uncomplicated surgeries and post-operative courses. Our literature review reveals that both evisceration and enucleation are viable surgical options for globe removal in Sturge-Weber syndrome, yet careful preoperative planning must be undertaken to minimize risk.
Topics: Blindness; Eye Evisceration; Eye Pain; Eye, Artificial; Humans; Male; Middle Aged; Orbital Implants; Prosthesis Implantation; Sturge-Weber Syndrome
PubMed: 28146369
DOI: 10.1080/01676830.2017.1279643 -
BMJ Case Reports Feb 2021A 75-year-old woman presents to the acute medical take with confusion and headache following a road traffic accident. She had previously been fit and well, living alone...
A 75-year-old woman presents to the acute medical take with confusion and headache following a road traffic accident. She had previously been fit and well, living alone with no assistance. Following multiple investigations, she was diagnosed with Sturge-Weber Syndrome, a rare neurocutaneous disorder that usually presents with seizures in childhood. This case highlights an unusual example of this syndrome, presenting for the first time later in life.
Topics: Aged; Antipsychotic Agents; Female; Humans; Lamotrigine; Late Onset Disorders; Sturge-Weber Syndrome; Treatment Outcome
PubMed: 33568409
DOI: 10.1136/bcr-2020-239179 -
Acta Medica Portuguesa May 2021
Topics: Adult; Female; Humans; Magnetic Resonance Imaging; Neurocutaneous Syndromes; Occipital Lobe; Port-Wine Stain; Sturge-Weber Syndrome
PubMed: 34253280
DOI: 10.20344/amp.12671 -
Medicina Clinica May 1993
Topics: Facial Neoplasms; Female; Hemangioma; Humans; Male; Sturge-Weber Syndrome
PubMed: 8315971
DOI: No ID Found -
The Journal of the Association of... Mar 2013
Topics: Adult; Brain; Female; Fever; Humans; Sturge-Weber Syndrome; Tomography, X-Ray Computed; Virus Diseases
PubMed: 24475682
DOI: No ID Found -
Pediatric Neurosurgery 2011
Topics: Adolescent; Humans; Male; Sturge-Weber Syndrome
PubMed: 21822004
DOI: 10.1159/000329631 -
Neuropediatrics Dec 1996In this article I review the typical clinical and neuroradiological features of Sturge-Weber syndrome and introduce some of the recently described findings demonstrated... (Review)
Review
In this article I review the typical clinical and neuroradiological features of Sturge-Weber syndrome and introduce some of the recently described findings demonstrated by magnetic resonance imaging and perfusion-based single photon emission computed tomography. The article is concluded by a discussion into the most efficient way of imaging children with Sturge-Weber syndrome.
Topics: Brain; Cerebral Angiography; Cerebral Arteries; Choroid Plexus; Fistula; Humans; Magnetic Resonance Imaging; Sturge-Weber Syndrome; Tomography, Emission-Computed, Single-Photon; Tomography, X-Ray Computed
PubMed: 9050045
DOI: 10.1055/s-2007-973796