Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury.
A characteristic symptom complex.
The smallest difference which can be discriminated between two stimuli or one which is barely above the threshold.
Attachment of a bone in which its head and neck is rotated excessively backward.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
The sensory interpretation of the dimensions of objects.
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
Sugar-rich liquid produced in plant glands called nectaries. It is either produced in flowers or other plant structures, providing a source of attraction for pollinating insects and animals, as well as being a nutrient source to animal mutualists which provide protection of plants against herbivores.

A case of glaucoma associated with Sturge-Weber syndrome and Nevus of Ota. (1/61)

The Sturge-Weber syndrome consists of a unilateral port-wine hemangioma of the skin along the trigeminal distribution and is accompanied by an ipsilateral leptomeningeal angioma. Glaucoma is present in approximately half of the cases. The Nevus of Ota is a melanocytic pigmentary disorder, most commonly involving the area innervated by the trigeminal nerve. Elevated intraocular pressure, with or without glaucomatous damage, is observed in 10% of the cases. We report the first case of glaucoma associated with Sturge-Weber syndrome and Nevus of Ota in Korea.  (+info)

Sturge-Weber disease with repercussion on the prenatal development of the cerebral hemisphere. (2/61)

Sturge-Weber syndrome was diagnosed in a neonate on basis of a characteristic port-wine stain. In the absence of any acute neurologic episode, MR images obtained when the infant was aged 3 months showed a typical pial vascular dysplasia, as well as prominent hypotrophy of the homolateral hemisphere. Areas suggesting the presence of developmental dysplasia of the cerebral mantel were found in association with the typical pial vascular anomaly. The prenatal effect of Sturge-Weber disease on normal brain development may best be explored by using a better evaluation with cerebral imaging shortly after birth.  (+info)

Prophylactic antiepileptic treatment in Sturge-Weber disease. (3/61)

PURPOSE: In Sturge-Weber disease, motor and cognitive defects are supposed to result mostly from severe epilepsy. They might, therefore be partly prevented by prophylactic antiepileptic drug treatment. This condition constitutes a possible model for the study of prophylactic drug treatment in severe epilepsy. In the present study, we compared the outcome of patients treated prospectively with phenobarbitone before the first seizure, with those referred following the first seizure, in order to identify the issues related to the evaluation of prophylactic treatment of severe epilepsy. METHODS: Motor and cognitive outcome were compared in patients treated prophylactically with phenobarbitone (16 cases) and in those treated following the first seizures (21 cases). RESULTS: Whereas the incidence of motor deficit was similar in both groups (44 vs. 52%), that of mental retardation was lower in the group treated prophylactically (76.2 vs. 43.7%, P< 0.05). The major methodological issues encountered included the small number of patients identified at birth that could be included in the study, the need for randomization taking into account the size of the angioma, and the choice of the prophylactic medication, including the occurrence of epilepsy together with the course of motor and cognitive functions among the endpoints. CONCLUSION: Prophylactic anti-epileptic drug treatment is worth considering for Sturge-Weber disease, but a randomized prospective study is necessary to determine this. It should be multicentric, take in account the size of the angioma, and decide what the most appropriate medication should be.  (+info)

Pulsed dye laser for Sturge-Weber syndrome. (4/61)

Port wine stain of Sturge-Weber syndrome represents a cosmetic prejudice with social consequences. We have treated eight patients with a 585 nm pulsed dye laser. According to our experience, the treatment is not risky provided that adequate care is taken; the cosmetic result on the V1 port wine stain component is satisfactory.  (+info)

Contrast-enhanced fluid-attenuated inversion recovery imaging for leptomeningeal disease in children. (5/61)

BACKGROUND AND PURPOSE: To develop an MR imaging method that improves detection of leptomeningeal disease when compared with the current reference standard, contrast-enhanced T1-weighted imaging. METHODS: We investigated the cases of 10 children who were at high risk of intracranial leptomeningeal disease (Sturge-Weber syndrome and medulloblastoma). The cases of Sturge-Weber syndrome were investigated by using one MR imaging examination, and the cases of medulloblastoma were investigated by using four MR imaging examinations performed over 18 months. In all cases, contrast-enhanced fluid-attenuated inversion recovery (FLAIR) images were acquired in addition to the routine sequences. The parameters of the FLAIR sequence were chosen to maximize the T1 component of the signal intensity, to maximize detection of leptomeningeal enhancement. We made subjective and objective assessments of the presence and extent of leptomeningeal disease as shown on contrast-enhanced T1-weighted images and contrast-enhanced FLAIR images. RESULTS: In three of the four cases of Sturge-Weber syndrome, the T1 and FLAIR sequences showed comparable extent of leptomeningeal enhancement. For one child, FLAIR images showed unexpected bilateral disease and more extensive leptomeningeal enhancement on the clinically suspected side. In four of six cases of medulloblastoma, no leptomeningeal enhancement was shown on any examinations during the 18-month period. In two cases, FLAIR images showed more extensive leptomeningeal enhancement when compared with T1-weighted images. CONCLUSION: Contrast-enhanced FLAIR imaging seems to improve detection of leptomeningeal disease when compared with routine contrast-enhanced T1-weighted imaging. This seems to be partly because of suppression of signal intensity from normal vascular structures on the surface of the brain by FLAIR, which allows easier visualization of abnormal leptomeninges. We think that these findings can be extrapolated to the investigation of leptomeningeal disease of all causes and at all ages.  (+info)

Discrepancy between [18F]fluorodeoxyglucose and 11C-methionine positron emission tomography findings in Sturge-Weber syndrome--case report. (6/61)

Cerebral blood flow and metabolism were evaluated in an adult with symptomatic intractable epilepsy and Sturge-Weber syndrome (SWS) manifesting as angiomas in the left cerebral hemisphere. 99mTc-ethylcysteinate dimer single photon emission computed tomography detected reduced blood flow in the entire left cerebral hemisphere, and [18F]fluorodeoxyglucose positron emission tomography (PET) showed decreased glucose metabolism in the left cerebral hemisphere. These findings indicated hypofunction of the left cerebral hemisphere, which caused the right hemiparesis. 11C-methionine (11C-Met) PET revealed high 11C-Met accumulation in the angiomas in the left cerebral hemisphere. Immunostaining for glial fibrillary acidic protein showed positive reaction in the lesions. Gliosis is a likely mechanism for the 11C-Met accumulation, which is possibly associated with progressive calcification in the angiomas and retarded growth of patients with SWS occurring over many years.  (+info)

Early characteristics of Sturge-Weber syndrome shown by perfusion MR imaging and proton MR spectroscopic imaging. (7/61)

We report the case of a 9-month-old boy with Sturge-Weber syndrome and new onset of seizure. Perfusion MR imaging showed early changes compatible with impaired venous drainage in the affected hemisphere, whereas proton MR spectroscopic imaging revealed a focal parietal area of elevated choline without significant alteration of N-acetylaspartate levels. The perfusion and subtle metabolic abnormalities are comparable with the extent of the overlying leptomeningeal enhancement, illustrating the early pathophysiological manifestation of this disease.  (+info)

Total oral rehabilitation in a patient with portwine stains. (8/61)

Sturge-Weber syndrome is an uncommon condition characterized by presence of Portwine stains on the face along with ocular disorders, mental retardation, oral involvement and leptomeningeal angiomas. A report of a case with atypical manifestations of this syndrome along with a step-by-step protocol oral rehabilitation of such patients is described.  (+info)

Brainstem infarctions refer to the damage or death of brain tissue in the brainstem due to lack of blood supply, resulting in a localized injury known as an infarction. The brainstem is a critical region that controls essential functions such as breathing, heart rate, and consciousness. Infarctions in this area can result in various symptoms depending on the location and extent of damage, which may include:

1. Hemiparesis or paralysis on one side of the body
2. Cranial nerve dysfunction, leading to double vision, slurred speech, or facial weakness
3. Difficulty swallowing or speaking
4. Unstable blood pressure and heart rate
5. Altered level of consciousness, ranging from confusion to coma
6. Abnormal muscle tone and reflexes
7. Respiratory disturbances, such as irregular breathing patterns or apnea (cessation of breathing)

Brainstem infarctions can be caused by various conditions, including atherosclerosis, embolism, vasospasm, or small vessel disease. Prompt diagnosis and treatment are crucial to minimize the risk of long-term disability or death.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

The Differential Threshold, also known as the Just Noticeable Difference (JND), is the minimum change in a stimulus that can be detected or perceived as different from another stimulus by an average human observer. It is a fundamental concept in psychophysics, which deals with the relationship between physical stimuli and the sensations and perceptions they produce.

The differential threshold is typically measured using methods such as the method of limits or the method of constant stimuli, in which the intensity of a stimulus is gradually increased or decreased until the observer can reliably detect a difference. The difference between the original stimulus and the barely detectable difference is then taken as the differential threshold.

The differential threshold can vary depending on a number of factors, including the type of stimulus (e.g., visual, auditory, tactile), the intensity of the original stimulus, the observer's attention and expectations, and individual differences in sensory sensitivity. Understanding the differential threshold is important for many applications, such as designing sensory aids for people with hearing or vision impairments, optimizing the design of multimedia systems, and developing more effective methods for detecting subtle changes in physiological signals.

"Bone retroversion" is not a widely recognized medical term or concept with a specific definition. The term "retroversion" is used in anatomy to describe the position of an organ or structure when it is turned backward or inward. In relation to bones, retroversion typically describes the orientation of a bone or joint when it is angled or positioned in such a way that its posterior (back) aspect faces more anteriorly (toward the front).

However, I was unable to find a widely accepted medical definition for "bone retroversion" as a specific pathological or anatomical condition. It's possible that the term may be used in a more specialized context within certain medical subspecialties. If you have more context or information about where this term is being used, I may be able to provide a more precise answer.

Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is characterized by intellectual and developmental disabilities, distinctive facial features, and sometimes physical growth delays and health problems. The condition affects approximately one in every 700 babies born in the United States.

Individuals with Down syndrome have varying degrees of cognitive impairment, ranging from mild to moderate or severe. They may also have delayed development, including late walking and talking, and may require additional support and education services throughout their lives.

People with Down syndrome are at increased risk for certain health conditions, such as congenital heart defects, respiratory infections, hearing loss, vision problems, gastrointestinal issues, and thyroid disorders. However, many individuals with Down syndrome live healthy and fulfilling lives with appropriate medical care and support.

The condition is named after John Langdon Down, an English physician who first described the syndrome in 1866.

Size perception in a medical context typically refers to the way an individual's brain interprets and perceives the size or volume of various stimuli. This can include visual stimuli, such as objects or distances, as well as tactile stimuli, like the size of an object being held or touched.

Disorders in size perception can occur due to neurological conditions, brain injuries, or certain developmental disorders. For example, individuals with visual agnosia may have difficulty recognizing or perceiving the size of objects they see, even though their eyes are functioning normally. Similarly, those with somatoparaphrenia may not recognize the size of their own limbs due to damage in specific areas of the brain.

It's important to note that while 'size perception' is not a medical term per se, it can still be used in a medical or clinical context to describe these types of symptoms and conditions.

Metabolic syndrome, also known as Syndrome X, is a cluster of conditions that increase the risk of heart disease, stroke, and diabetes. It is not a single disease but a group of risk factors that often co-occur. According to the American Heart Association and the National Heart, Lung, and Blood Institute, a person has metabolic syndrome if they have any three of the following five conditions:

1. Abdominal obesity (waist circumference of 40 inches or more in men, and 35 inches or more in women)
2. Triglyceride level of 150 milligrams per deciliter of blood (mg/dL) or greater
3. HDL cholesterol level of less than 40 mg/dL in men or less than 50 mg/dL in women
4. Systolic blood pressure of 130 millimeters of mercury (mmHg) or greater, or diastolic blood pressure of 85 mmHg or greater
5. Fasting glucose level of 100 mg/dL or greater

Metabolic syndrome is thought to be caused by a combination of genetic and lifestyle factors, such as physical inactivity and a diet high in refined carbohydrates and unhealthy fats. Treatment typically involves making lifestyle changes, such as eating a healthy diet, getting regular exercise, and losing weight if necessary. In some cases, medication may also be needed to manage individual components of the syndrome, such as high blood pressure or high cholesterol.

I apologize for any confusion, but "Plant Nectar" is not a term used in medical definitions. Nectar is a sweet liquid produced by plants in flowers to attract pollinators such as insects and birds. It's a sugar-rich substance that serves as a source of energy for these animals. While it may have some nutritional value, it's not something that would be relevant to medical definitions or human health in a direct sense.

2 A patient with Sturge Weber Syndrome {{cite journal}}: External link in ,quote= (help) sturge_weber at NINDS (CS1 maint: DOI ... The charity was instrumental in setting up a specialist Sturge Weber clinic at Great Ormond Street Hospital. "The Sturge-Weber ... It is named for William Allen Sturge and Frederick Parkes Weber. The Sturge-Weber Foundation's (The SWF) international mission ... Sturge-Weber syndrome is usually manifested at birth by a port-wine stain on the forehead and upper eyelid of one side of the ...
In 1879 he described a disorder in a six-year-old child which would later be called the Sturge-Weber syndrome. It is co-named ... Thomas-Sohl, Kristin A; Vaslow, Dale F; Maria, Bernard L (May 2004). "Sturge-Weber syndrome: A review". Pediatric Neurology. 30 ... Sturge created a laboratory at Queen's College Harley Street which he named the Bovell-Sturge laboratory. In 1907 Sturge ... William Allen Sturge at Who Named It Works by or about William Allen Sturge at Internet Archive Works by or about William Allen ...
"SWSC News - November 2007". Sturge-Weber Syndrome Community. 2007. "Fellow Directory". American Institute for Biomedical ...
Sturge-Weber syndrome: A congenital disorder involving the brain, skin and eyes. In 1922, Weber reported the first radiologic ... Weber-Cockayne syndrome: A form of epidermolysis bullosa. Named with Edward Alfred Cockayne. Parkes Weber syndrome: A rare ... Thomas-Sohl, Kristin A; Vaslow, Dale F; Maria, Bernard L (May 2004). "Sturge-Weber syndrome: A review". Pediatric Neurology. 30 ... His name is ascribed to several disorders such as: Klippel-Trénaunay-Weber syndrome: A rare syndrome characterized by enlarged ...
Thomas-Sohl, Kristina A.; Vaslow, Dale F.; Maria, Bernard L. (2004). "Sturge-Weber syndrome: A review". Pediatric Neurology. 30 ... hemiplegia of childhood Weber's syndrome Medial medullary syndrome Familial hemiplegic migraine Brain stem stroke syndrome " ... Weber's syndrome, middle alternating hemiplegia, and inferior alternating hemiplegia. This type of syndrome can result from a ... Although Weber's syndrome is rare, a child born with the disorder typically has a port-wine stain on the face around the eye. ...
Some neurocutaneous disorders are found exclusively as mosaics such as Sturge-Weber syndrome and Proteus syndrome. Others such ... Sturge-Weber syndrome occurs in approximately 1 in 20,000-50,000 live births and is caused by a somatic activating mutation in ... This term later became imprecise when van der Hoeve also used it to include those with Sturge-Weber syndrome as they do not ... Sudarsanam, Annapurna; Ardern-Holmes, Simone L. (2013-11-25). "Sturge-Weber syndrome: From the past to the present". European ...
Borns, PF; Rancier, LF (September 1974). "Cerebral calcification in childhood leukemia mimicking Sturge-Weber syndrome. Report ...
YAG laser for gingivectomy in Sturge-Weber syndrome". Journal of Oral and Maxillofacial Surgery. 65 (2): 314-316. doi:10.1016/j ...
Neurobiological mechanisms of language acquisition in Sturge Weber Syndrome. Proceedings of the 23rd Annual BUCLD, vol. 1, 150- ... Grammatical comprehension, aphasic syndromes and neuroimaging. Journal of Neurolinguistics, vol. 6, 3, 301-318. Krashen, S.D., ...
Sturge-Weber syndrome is caused by an activating somatic mutation in the GNAQ gene and it affects approximately 1 in 20,000- ... Some types of phakomatoses such as tuberous sclerosis complex and Sturge-Weber syndrome have a higher prevalence of epilepsy ... Sudarsanam, Annapurna; Ardern-Holmes, Simone L. (May 2014). "Sturge-Weber syndrome: from the past to the present". European ... "Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ". The New England Journal of Medicine. 368 (21): ...
Sturge-Weber syndrome - a syndrome characterized by a port-wine stain nevus in the distribution of the trigeminal nerve, ... "Sturge-Weber syndrome: Definition and Much More from Answers.com". Answers.comSturge-Weber syndrome ... Congenital Horner's syndrome - sometimes inherited, although usually acquired. Waardenburg syndrome - a syndrome in which ...
STURGE-WEBER SYNDROME; SWS - 185300 Online Mendelian Inheritance in Man (OMIM): KLIPPEL-TRENAUNAY-WEBER SYNDROME - 149000 ... "Parkes Weber Syndrome , Conditions + Treatments". "Parkes Weber Syndrome , Treatments". EL-Sobky TA, Elsayed SM, EL Mikkawy DME ... "Parkes Weber syndrome, GTR". Banzic; et al. (2017). "Parkes Weber syndrome-Diagnostic and management paradigms: A systematic ... "Parkes Weber syndrome, National Center for Advancing Translational Sciences". "Parkes Weber syndrome, Genetics Home Reference ...
... s may be part of a syndrome such as Sturge-Weber syndrome or Klippel-Trénaunay-Weber syndrome. Nevus flammeus ... Topical rapamycin combined with pulsed dye laser in the treatment of capillary vascular malformations in Sturge-Weber syndrome ... on infants who have a port-wine stain in the head area in order to check for signs of Sturge-Weber syndrome. If the port-wine ... "Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in". New England Journal of Medicine. 368 (21): 1971-9. ...
Tram track-shaped calcifications in the cerebral cortex indicate Sturge-Weber syndrome.[citation needed] where intracranial ... gyriform calcification (brain imaging) seen mostly in occipital and posterior parietal/temporal lobe ;this syndrome consists ...
"Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ". The New England Journal of Medicine. 368 (21): ... Mutations in this gene have been found associated to cases of Sturge-Weber syndrome and port-wine stains. GNAQ has been shown ...
Anne Marie Spalding Comi is an American pediatric neurologist specialized in the treatment of Sturge-Weber syndrome. She is a ... She specializes in the treatment of Sturge-Weber syndrome and disorders due to vascular malformation. Comi has served as the ... director of the Hunter Nelson Sturge-Weber Center at the Kennedy Krieger Institute since 2002. She is a professor of neurology ... professor of neurology and pediatrics at the Johns Hopkins School of Medicine and director of the Hunter Nelson Sturge-Weber ...
It is unrelated to Sturge-Weber syndrome, Klippel-Trénaunay-Weber syndrome or Osler-Weber-Rendu syndrome. These conditions are ... "Weber's syndrome". GPnotebook. "Weber Syndrome". StatPearls. StatPearls. 2021. Weber HD (1863). "A contribution to the ... Weber's syndrome, also known as midbrain stroke syndrome or superior alternating hemiplegia, is a form of stroke that affects ... hemiplegia of childhood Lateral medullary syndrome Lateral pontine syndrome Medial medullary syndrome Medial pontine syndrome " ...
Brain tumor Brain abscess Sturge-Weber syndrome Cerebral palsy Cerebrovascular accident Multiple sclerosis Esquenazi A (2004 ...
March 2016). "Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome ... including non-small cell lung cancer and Down's Syndrome. The first dPCR system for clinical use was CE-marked in 2017 and ...
DVA can also be found diagnosed with Sturge-Weber syndrome and can be found through leptomeningeal angiomatosis. Demyelinating ...
The term "Schirmer's syndrome" is employed to indicate the association of hydrophthalmia (early glaucoma) and Sturge-Weber ... doctor/1665 at Who Named It? Volltextsuche der Amtspresse Preußens Sturge-Weber syndrome @ Who Named It Rudolf Schirmer - ... Journal of the American Academy of Pediatrics Cerebral Perfusion Abnormalities in Children With Sturge-Weber Syndrome Works by ... syndrome. His son, Otto Schirmer (1864-1918) was also a professor of ophthalmology at Greifswald. Ein Fall von Telangiektasia. ...
Usually solitary, they can occur as part of syndromes such as Sturge-weber Syndrome affecting the trigeminal nerve. They are at ... If viral reactivation occurs in the facial nerve, it can cause Ramsay-Hunt Syndrome in which patients can develop facial ... Mucosal neuromas can be associated with other conditions such as Multiple Endocrine Neoplasia (MEN) Syndrome and may precede ...
But, in children with conditions like Sturge-Weber syndrome (SWS) or tumors, there is report of greater seizure control rates. ... of patients with Lennox-Gastaut syndrome will have epilepsy, 80% of children with Rett syndrome will have epilepsy and 80% of ... of fragile X syndrome patients have epilepsy, 50% of children with learning disabilities will have some form of epilepsy, 3-10 ...
... the more commonly encountered disorders that may be associated with congenital glaucoma are Aniridia and Sturge-Weber syndrome ... Axenfeld syndrome Peters-plus syndrome Weill-Marchesani syndrome "The glaucomas". Parsons' diseases of the eye (22nd ed.). New ...
... demonstrate calcium containing brain abnormalities causing epilepsy such as in tuberous sclerosis and Sturge-Weber syndrome. ... Geschwind syndrome is a syndrome of altered sexuality (most often hyposexuality), religiosity, and compulsive or extensive ...
Often on the face, marks on the upper eyelid or forehead may be indicative of a condition called Sturge-Weber syndrome. ... PHACES Syndrome, a rare condition that often involves brain, heart, and arterial abnormalities, is generally accompanied by the ...
An SWI venogram of a neonate with Sturge-Weber syndrome who did not display neurological symptoms is shown to the right. The ...
Crouzon syndrome, Ehlers-Danlos syndrome, Gardner's syndrome, and Sturge-Weber syndrome. Some systemic disorders which may ... and is associated with Klinefelter syndrome, Tricho-dento-osseous syndrome, Triple X syndrome, and XYY syndrome. ... result in hypodontia include Crouzon syndrome, Ectodermal dysplasia, Ehlers-Danlos syndrome, and Gorlin syndrome. Microdontia ... Some systemic disorders which may result in hyperdontia include Apert syndrome, cleidocranial dysostosis, ...
Mohr syndrome, Rubinstein-Taybi syndrome and Sturge Weber syndrome are at a higher risk of having DE. It is important to ... Patients with Ellis-van Creveld syndrome, incontinentia pigmenti achromians, ...
Bacillary angiomatosis Klippel-Trénaunay syndrome Sturge-Weber syndrome It is a vascular malformation wherein blood vessels ...
2 A patient with Sturge Weber Syndrome {{cite journal}}: External link in ,quote= (help) sturge_weber at NINDS (CS1 maint: DOI ... The charity was instrumental in setting up a specialist Sturge Weber clinic at Great Ormond Street Hospital. "The Sturge-Weber ... It is named for William Allen Sturge and Frederick Parkes Weber. The Sturge-Weber Foundations (The SWF) international mission ... Sturge-Weber syndrome is usually manifested at birth by a port-wine stain on the forehead and upper eyelid of one side of the ...
Sturge-Weber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain ... medlineplus.gov/genetics/condition/sturge-weber-syndrome/ Sturge-Weber syndrome. ... 2015 Sturge-Weber Syndrome Research Workshop. Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research. Pediatr ... Sturge-Weber syndrome is caused by a mutation in the GNAQ gene. This gene provides instructions for making a protein called ...
When a baby is born with a port-wine birthmark on the face, doctors will look for other signs of Sturge-Weber. ... Sturge-Weber syndrome is a problem with the way blood vessels grow in the skin, eyes, and brain. ... Síndrome de Sturge-Weber. What Is Sturge-Weber Syndrome?. Sturge-Weber syndrome is a problem with the way blood vessels grow in ... How Is Sturge-Weber Syndrome Diagnosed?. When there are signs a baby may have Sturge-Weber syndrome, the doctor will do an exam ...
Sturge-Weber syndrome (SWS), also called encephalotrigeminal angiomatosis, is a neurocutaneous disorder with angiomas that ... Sturge-Weber Syndrome: Introduction and Overview. In: Bodensteiner JB, Roach ES, eds. Sturge-Weber Syndrome. Sturge Weber ... Neurosurgical aspects of Sturge-Weber syndrome. Bodensteiner JB, Roach ES, eds. Sturge-Weber Syndrome. Mt Freedom, NJ: Sturge ... Ophthalmologic manifestations of Sturge-Weber syndrome. Bodensteiner JB, Roach ES, eds. Sturge-Weber Syndrome. Mt Freedom, New ...
STURGE-WEBER SYNDROME. The Sturge-Weber syndrome (SWS), also known as encephalofacial angiomatosis, is a neurocutaneous ... Sturge-Weber syndrome research workshop. lLeveraging a Sturge-Weber gene discovery: an agenda for future research. Pediatr ... Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013;368:1971-1979.. 22. Comi AM, ... Clinical features of Sturge-Weber syndrome, Int Arch Otolaryngology. 2008;12:4.. 27. Luat AF, Juhász C, Loeb JA, et al. ...
WHAT CAUSES STURGE-WEBER SYNDROME?. We are still learning more about the cause of Sturge-Weber syndrome. It is not a genetic ... What is Sturge-Weber syndrome?. Sturge-Weber syndrome is with abnormal groups of blood vessels on the skin leading to a reddish ... WHERE CAN I LEARN MORE ABOUT STURGE-WEBER SYNDROME?. · Sturge-Weber Foundation. ... WHAT EYE PROBLEMS CAN OCCUR WITH STURGE-WEBER SYNDROME?. Some children with Sturge-Weber have eyes that are different colors. ...
What is Stickler Syndrome?. Sturge-Weber Syndrome (SWS) (encephelotrigeminal angiomatosis) is characterized by a congenital ... New advances and procedures concerning Sturge-Weber Syndrome are constantly being developed. Be an advocate for your child!. ... This US National Library of Medicine site answers many of the genetic questions regarding Stickler Syndrome. ...
The prognosis of Sturge-Weber syndrome (SWS) is partly related to early occurrence of seizures but the diagnosis of this ... Accelerated myelination in early Sturge-Weber syndrome: MRI-SPECT correlations Pediatr Radiol. 1996 Nov;26(11):759-62. doi: ... The prognosis of Sturge-Weber syndrome (SWS) is partly related to early occurrence of seizures but the diagnosis of this ... Sturge-Weber Syndrome / diagnostic imaging * Sturge-Weber Syndrome / physiopathology* * Tomography, Emission-Computed, Single- ...
Technetium-99m-HMPAO SPECT in Sturge-Weber Syndrome. Zvi Bar-Sever, Leonard P. Connolly, Patrick D. Barnes and S. Ted Treves ... Technetium-99m-HMPAO SPECT in Sturge-Weber Syndrome Message Subject (Your Name) has sent you a message from Journal of Nuclear ... Cerebral Perfusion Abnormalities in Children With Sturge-Weber Syndrome Shown by Dynamic Contrast Bolus Magnetic Resonance ...
The Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the phakomatosis pigmentovascularis have the facial port-wine stain ... mutation of the GNAO gene in the Sturge-Weber syndrome, PIK3CA mutation in malformative/overgrowth syndromes such as the ... Klippel-Trenaunay syndrome, and the twin-spotting phenomenon in phakomatosis pigmentovascularis. Other features linked to the ... The Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the phakomatosis pigmentovascularis have the facial port-wine stain ...
About Sturge-Weber Syndrome. Sturge-Weber syndrome is a rare medical condition characterized by a facial Port Wine birthmark ... Multiple other body organs are rarely affected in Sturge-Weber syndrome. Infants affected with Sturge-Weber Syndrome are often ... Other symptoms associated with Sturge-Weber can include eye and internal organ irregularities. Each case of Sturge-Weber ... Sturge-Weber Syndrome (encephelotrigeminal angiomatosis) is a congenital, non-familial disorder of unknown incidence and cause ...
Treatment Services at the Hunter Nelson Sturge-Weber Syndrome Center Sturge-Weber syndrome is a rare disease where abnormal ... Give to Sturge-Weber Syndrome research and help children enjoy fuller lives through improved diagnosis, care, and education. ... Give to Sturge-Weber Syndrome research and help children enjoy fuller lives through improved diagnosis, care, and education. ... Kennedy Krieger Institute Patient Care Centers & Programs Hunter Nelson Sturge-Weber Syndrome Center Treatment Services ...
Sturge-Weber Syndrome, Second Edition. Mt. Freedom, NJ: Sturge-Weber Foundation, 2010 ... Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013;368(21):1971-1979 ... Sturge-Weber syndrome is characterized by an upper facial port-wine lesion, an intracranial leptomeningeal vascular lesion, and ... Among people with Sturge-Weber syndrome, the neurological manifestations are highly variable. Most individuals are ...
... mentally disabled boy with history of long-standing epilepsy and a port-wine stain is diagnosed with Sturge-Weber syndrome. ... Sturge-Weber syndrome is sporadic neurocutaneous syndrome. Its imaging findings in patients presenting with facial angioma and ... In patients with Sturge-Weber syndrome, X-ray findings in the skull usually show a tram-track pattern of calcification that is ... Sturge-Weber syndrome (encephalotrigeminal angiomatosis) is a sporadic phakomatosis of unknown etiology that may be ...
2015 Sturge-Weber Syndrome Research Workshop. Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research. Pediatr ... Sturge-Weber Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/3911 Ren, Bruce. "Sturge-Weber Syndrome." Encyclopedia. ... In people with Sturge-Weber syndrome, the port-wine birthmark is most often on the face, typically on the forehead, temple, or ... Sturge-Weber syndrome is caused by a mutation in the GNAQ gene. This gene provides instructions for making a protein called ...
Sturge-Weber syndrome. At least one mutation in the GNAQ gene has been found to cause Sturge-Weber syndrome. Sturge-Weber ... 2015 Sturge-Weber Syndrome Research Workshop. Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research. Pediatr ... The GNAQ gene mutation associated with Sturge-Weber syndrome changes a single building block (amino acid) in the Gαq protein. ... Sturge-Weber syndrome. Handb Clin Neurol. 2015;132:157-68. doi: 10.1016/B978-0-444-62702-5.00011-1. Citation on PubMed ...
title = "Sturge-Weber Syndrome",. abstract = "Sturge-Weber syndrome (SWS) is the association of the facial port-wine birthmark ... Sturge-Weber Syndrome. / Comi, Anne M.; Marchuk, Douglas A.; Pevsner, Jonathan. Rosenbergs Molecular and Genetic Basis of ... Sturge-Weber syndrome (SWS) is the association of the facial port-wine birthmark with malformed leptomeningeal blood vessels ... N2 - Sturge-Weber syndrome (SWS) is the association of the facial port-wine birthmark with malformed leptomeningeal blood ...
Sturge-Weber syndrome answers are found in the Tabers Medical Dictionary powered by Unbound Medicine. Available for iPhone, ... syndrome. Sturge-Weber Syndrome [Internet]. In: Venes DD, editors. Tabers Medical Dictionary. F.A. Davis Company; 2021. [cited ... syndrome. Accessed December 8, 2023.. Sturge-Weber syndrome. (2021). In Venes, D. (Ed.), Tabers Medical Dictionary (24th ed ... "Sturge-Weber Syndrome." Tabers Medical Dictionary, 24th ed., F.A. Davis Company, 2021. Nursing Central, nursing. ...
CONCEICAO, Joanna G. da et al. Sturge-Weber syndrome: a case report. RSBO (Online) [online]. 2011, vol.8, n.4, pp. 469-472. ... Sturge-Weber syndrome is a systemic condition commonly affecting oral cavity through vascular lesions, therefore, dentists ... Objective: To report a clinical case of Sturge-Weber Syndrome in a 29-yeral-old male patient who presented oral manifestations ... Introduction: The Sturge-Weber Syndrome, also known as encephalotrigeminal angiomatosis, is a rare vascular neurocutaneous ...
Sturge-Weber Syndrome - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical ... Sturge-Weber syndrome is a neurocutaneous syndrome that occurs in 1 in 50,000 people. Sturge-Weber syndrome is not inherited. ... Sturge-Weber syndrome can also cause glaucoma and vascular narrowing, which may increase risk of stroke Overview of Stroke ... Treatment of Sturge-Weber syndrome is focused on symptoms. Antiseizure drugs Drug Treatment of Seizures No single drug controls ...
Sturge-Weber syndrome (SWS) is a congenital disorder caused by the persistence of the transitory primordial sinusoidal plexus ... encoded search term (Imaging in Sturge-Weber Syndrome) and Imaging in Sturge-Weber Syndrome What to Read Next on Medscape ... Imaging in Sturge-Weber Syndrome. Updated: Jul 19, 2013 * Author: Ali Nawaz Khan, MBBS, FRCS, FRCP, FRCR; Chief Editor: James G ... Sturge-Weber syndrome (SWS) is a congenital disorder caused by the persistence of the transitory primordial sinusoidal plexus ...
Non-penetrating deep sclerectomy for glaucoma associated with Sturge-Weber syndrome.. François Audren, Olivia Abitbol, Pascal ... in the treatment of glaucoma associated with Sturge-Weber syndrome (SWS).. METHODS: We carried out a retrospective case series ...
Course 10: Diagnosis and Management of Sturge-Weber Syndrome. Course 10: Diagnosis and Management of Sturge-Weber Syndrome ... Course 10- Diagnosis and Management of Sturge-Weber Syndrome - VBF Physician E-Learning Center. Did you find this information ...
Furukawa T, Igata A, Toyokura Y, Ikeda S. Sturge-Weber and Klippel-Trenaunay Syndrome With Nevus of Ota and Ito. Arch Dermatol. ... The combination of Sturge-Weber and Klippel-Trénaunay syndromes indicates a nosological relationship. ... Sturge-Weber and Klippel-Trenaunay Syndrome With Nevus of Ota and Ito. ...
Vasogenic leakage and the mechanism of migraine with prolonged aura in Sturge-Weber syndrome. In: Cephalalgia. 2004 ; Vol. 24, ... Vasogenic leakage and the mechanism of migraine with prolonged aura in Sturge-Weber syndrome. / Iizuka, T.; Sakai, F.; Yamakawa ... title = "Vasogenic leakage and the mechanism of migraine with prolonged aura in Sturge-Weber syndrome", ... Vasogenic leakage and the mechanism of migraine with prolonged aura in Sturge-Weber syndrome. ...
Sturge-Weber Syndrome * Surgery - General and Thoracic * Surgical Weight Loss * Thrombosis * Tic Disorder ...
The most well-known epilepsies are DS, Sturge-Weber Syndrome (SWS), Tuberous Sclerosis Complex (TSC) and West Syndrome (WS) and ... Sturge-Weber Syndrome. 2-25 mg/kg/day. Levetiracetam. Valproic acid. Felbamate. CLB. Rufinamide. Perampanel. Clorazepate. ... Kaplan, E.H.; Offermann, E.A.; Sievers, J.W.; Comi, A.M. Cannabidiol treatment for refractory seizures in Sturge-Weber syndrome ... Comi, A.M. Presentation, diagnosis, pathophysiology and treatment of the neurologic features of Sturge-Weber Syndrome. Neurol. ...
Sturge-Weber Syndrome (SWS) is a rare vascular malformation disorder characterized by abnormal blood vessels in the brain, skin ... N2 - Sturge-Weber Syndrome (SWS) is a rare vascular malformation disorder characterized by abnormal blood vessels in the brain ... AB - Sturge-Weber Syndrome (SWS) is a rare vascular malformation disorder characterized by abnormal blood vessels in the brain ... abstract = "Sturge-Weber Syndrome (SWS) is a rare vascular malformation disorder characterized by abnormal blood vessels in the ...
About Sturge-Weber syndrome:. SWS is a condition that affects the development of certain blood vessels, causing abnormalities ... 1st case of Sturge Weber Syndrome in India to be treated using the cell based therapy ... 1st case of Sturge Weber Syndrome in India to be treated using the cell based therapy ... Further diagnosis and CT scan confirmed infection in brain & surrounding tissues due to Sturge-Weber syndrome. ...
Subluxation-dislocation and pupillary block (Marfan syndrome, homocystinuria, Weill-Marchesani syndrome, axial subluxation with ... Sturge-Weber syndrome. * Neurofibromatosis (NF-1). * Stickler syndrome. * Oculocerebrorenal (Lowe) syndrome. * Rieger syndrome ...
  • These features can vary in severity and not all individuals with Sturge-Weber syndrome have all three features. (medlineplus.gov)
  • In individuals with Sturge-Weber syndrome, glaucoma typically develops either in infancy or early adulthood and can cause vision impairment. (medlineplus.gov)
  • Individuals with Sturge-Weber syndrome can have tangles of abnormal blood vessels (hemangiomas) in various parts of the eye. (medlineplus.gov)
  • it is called a diffuse choroidal hemangioma and occurs in about one-third of individuals with Sturge-Weber syndrome. (medlineplus.gov)
  • 3 Historically, the forehead location of the nevus in individuals with Sturge-Weber syndrome was linked to the area's cutaneous nerve supply by the ophthalmic division of the trigeminal nerve, but this odd notion has finally been discounted in favor of a purely vascular explanation. (aap.org)
  • While the R183Q mutation has been found in uveal melanoma, individuals with Sturge-Weber syndrome or isolated port-wine birthmark do not have an increased risk of this form of cancer. (medlineplus.gov)
  • When these abnormal blood vessels develop in the network of blood vessels at the back of the eye (choroid), it is called a diffuse choroidal hemangioma and occurs in about one-third of individuals with Sturge-Weber syndrome. (encyclopedia.pub)
  • The GNAQ gene mutation that causes Sturge-Weber syndrome results in the production of a protein with impaired function. (medlineplus.gov)
  • What Causes Sturge-Weber Syndrome? (kidshealth.org)
  • Sturge-Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. (wikipedia.org)
  • 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. (medscape.com)
  • Introduction: The Sturge-Weber Syndrome, also known as encephalotrigeminal angiomatosis, is a rare vascular neurocutaneous alteration. (bvsalud.org)
  • Sturge-Weber Syndrome" Encyclopedia , https://encyclopedia.pub/entry/3911 (accessed December 07, 2023). (encyclopedia.pub)
  • Babies with Sturge-Weber are born with port-wine birthmarks on their face or scalp. (kidshealth.org)
  • Researchers now understand the cause of both Sturge-Weber syndrome and Port Wine birthmarks and are investigating the optimal studies for treatments. (sturge-weber.org)
  • Despite recent advances in our understanding of port-wine birthmarks and the related Sturge-Weber syndrome, the diagnosis and management of these conditions remain challenging. (aap.org)
  • The R183Q mutation in the GNAQ gene can also cause port-wine birthmarks without the brain or eye abnormalities that are often associated with Sturge-Weber syndrome (described above). (medlineplus.gov)
  • As in Sturge-Weber syndrome, isolated port-wine birthmarks caused by a GNAQ gene mutation are usually on one side of the face but can be on both sides. (medlineplus.gov)
  • It is thought that somatic GNAQ gene mutations that cause isolated port-wine birthmarks occur later in fetal development than those that cause Sturge-Weber syndrome and so affect fewer cells and tissues. (medlineplus.gov)
  • An international charitable organization that networks families affected by a vascular birthmark, anomaly, or related syndrome to the appropriate medical professionals for evaluation and/or treatment, educates physicians and affected families regarding treatment options, supports relevant research, mobilizes medical missions, and empowers those living with vascular birthmarks. (birthmark.org)
  • Most people with Sturge-Weber syndrome are born with a port-wine birthmark. (medlineplus.gov)
  • In people with Sturge-Weber syndrome, the port-wine birthmark is most often on the face, typically on the forehead, temple, or eyelid. (medlineplus.gov)
  • The decrease in blood flow caused by leptomeningeal angiomas can cause stroke-like episodes in people with Sturge-Weber syndrome. (medlineplus.gov)
  • People with Sturge-Weber syndrome have varying levels of cognitive function, from normal intelligence to intellectual disability. (medlineplus.gov)
  • The enhanced signaling likely disrupts the regulation of blood vessel development, causing abnormal and excessive formation of vessels before birth in people with Sturge-Weber syndrome. (medlineplus.gov)
  • Among people with Sturge-Weber syndrome, the neurological manifestations are highly variable. (aap.org)
  • The Sturge-Weber Foundation's (The SWF) global mission is to improve the quality of life and care for people with Sturge-Weber syndrome and associated Port-Wine Birthmark conditions through tenacious collaboration with clinical partners and pioneers, education, advocacy, research, and friendly support. (sturge-weber.org)
  • Children diagnosed with Sturge-Weber Syndrome should be examined by an ophthalmologist soon after the diagnosis and should be monitored by an ophthalmologist for eye problems. (aapos.org)
  • The prognosis of Sturge-Weber syndrome (SWS) is partly related to early occurrence of seizures but the diagnosis of this phakomatosis may be difficult during the 1st year of life. (nih.gov)
  • Give to Sturge-Weber Syndrome research and help children enjoy fuller lives through improved diagnosis, care, and education. (kennedykrieger.org)
  • Children whose seizures begin after age two years and those whose early seizures were promptly controlled tend to have fewer cognitive deficits, making early diagnosis of the syndrome and prompt seizure treatment vitally important. (aap.org)
  • Testing for this somatic mosaic mutation may be useful in the future for differentiating a SWS diagnosis in these patients from other capillary malformation related syndromes, such as -megalencephaly-capillary malformation-polymicrogyria syndrome, which also have capillary malformations but are otherwise different in terms of prognosis and associated complications. (johnshopkins.edu)
  • Diagnosis of Sturge-Weber syndrome is suggested by a characteristic port-wine nevus. (msdmanuals.com)
  • Further diagnosis and CT scan confirmed infection in brain & surrounding tissues due to Sturge-Weber syndrome. (monvoyage.in)
  • As the child had both the features of Sturge-Weber syndrome and Klippel-Trenaunay syndrome, a diagnosis of an overlap syndrome was made. (pediatricneurosciences.com)
  • Based upon these findings, the presence of a lesion involving both the orbit and eye should be included when a diagnosis of retinoblastoma, idiopathic inflammatory pseudotumor, lymphoma, and/or Sturge- Weber syndrome is proposed. (omicsonline.org)
  • West syndrome is a severe epilepsy syndrome composed of the triad of infantile spasms, an interictal electroencephalogram ( EEG ) pattern termed hypsarrhythmia, and mental retardation, although the diagnosis can be made even if 1 of the 3 elements is missing (according to the international classification). (medscape.com)
  • Many children with Sturge-Weber syndrome have seizures . (kidshealth.org)
  • God gives us the testimony of others to strengthen us to walk through our testimony," Jordan said, referring to the health struggles he and his family encountered after his youngest daughter was born with a rare vascular disorder called Sturge-Weber syndrome that began causing her to have severe seizures as a toddler. (myflr.org)
  • Sturge-Weber syndrome is a rare disease where abnormal blood vessels in the brain, skin and eye can cause seizures, paralysis, strokes, migraines, learning problems, vision loss, and other health issues. (kennedykrieger.org)
  • Sturge-Weber syndrome is a congenital vascular disorder characterized by a facial port-wine nevus, a leptomeningeal angioma, and neurologic complications (eg, seizures, focal neurologic deficits, intellectual disability). (msdmanuals.com)
  • Neurologic complications of Sturge-Weber syndrome include seizures, focal neurologic deficits (eg, hemiparesis), and intellectual disability. (msdmanuals.com)
  • The International League Against Epilepsy's (ILAE) revised classification and terminology of seizures and epilepsies, published in 2010, designates West syndrome as an electroclinical syndrome with onset in infancy, and epileptic spasms as a type of seizure. (medscape.com)
  • Sturge-Weber syndrome (SWS) is a rare congenital condition usually consisting of a facial port wine birthmark, glaucoma, and seizures, (although not all of these symptoms may be exhibited). (issuu.com)
  • Sturge-Weber Syndrome (SWS) is a rare neurological disorder associated with seizures, weakening (usually to one side of the body), glaucoma, developmental delays, and most noticeable at first, a port wine stain. (lovewhatmatters.com)
  • Sturge-Weber syndrome is caused by a mutation in the GNAQ gene. (medlineplus.gov)
  • Babies are born with Sturge-Weber because a gene, called GNAQ, changes during pregnancy. (kidshealth.org)
  • In 2013, the GNAQ gene mutation responsible for Sturge-Weber syndrome was discovered. (sturge-weber.org)
  • 5 Mutation testing of blood specimens is not generally useful for somatic mosaic conditions, and since GNAQ mutations are responsible for both isolated port-wine lesions and Sturge-Weber syndrome, the presence of a mutation does not predict the phenotype. (aap.org)
  • At least one mutation in the GNAQ gene has been found to cause Sturge-Weber syndrome. (medlineplus.gov)
  • The GNAQ gene mutation associated with Sturge-Weber syndrome changes a single building block (amino acid) in the Gαq protein. (medlineplus.gov)
  • Hos 90 % finner man en nyoppstått feil (mutasjon) i genet GNAQ. (helsenorge.no)
  • Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions? (hindawi.com)
  • The Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the phakomatosis pigmentovascularis have the facial port-wine stain in common. (hindawi.com)
  • Numerous pathophysiogenetic mechanisms have been suggested such as venous dysplasia of the emissary veins in the intracranial circulation, neural crest alterations leading to alterations of autonomic perivascular nerves, mutation of the GNAO gene in the Sturge-Weber syndrome, PIK3CA mutation in malformative/overgrowth syndromes such as the Klippel-Trenaunay syndrome, and the twin-spotting phenomenon in phakomatosis pigmentovascularis. (hindawi.com)
  • The Sturge-Weber syndrome (SWS) and Klippel-Trenaunay syndrome (KTS) were included in the phakomatoses together with neurofibromatosis, tuberous sclerosis, and von Hippel-Lindau syndrome in 1937 [ 1 ]. (hindawi.com)
  • Furukawa T , Igata A , Toyokura Y , Ikeda S. Sturge-Weber and Klippel-Trenaunay Syndrome With Nevus of Ota and Ito. (jamanetwork.com)
  • Klippel-Trenaunay syndrome and Sturge-Weber syndrome are rare disorders with neurologic and cutaneous signs of vascular origin. (pediatricneurosciences.com)
  • There will be three meeting rooms this year with presentations concerning hemangiomas, port wine stains, vascular malformations, venous malformations, lymphatic malformations, Klippel Trenaunay Syndrome and Sturge Weber Syndrome. (birthmark.org)
  • When a baby is born with a port-wine birthmark on the face, doctors will look for other signs to tell whether the baby has Sturge-Weber. (kidshealth.org)
  • The first sign that a baby might have Sturge-Weber is a birthmark on the face. (kidshealth.org)
  • In 1879, Sturge reported on a case with bilateral facial nevus, vascular deformity, and congenital glaucoma in the right eye and spasms affecting the patient's left side of the body [ 9 ]. (hindawi.com)
  • Sturge-Weber syndrome causes a capillary malformation called a port-wine nevus (or sometimes a stain or birth mark) typically on the forehead and upper eyelid in the distribution of the 1st and/or 2nd division of the trigeminal nerve. (msdmanuals.com)
  • Sturge-Weber Syndrome (SWS) (encephelotrigeminal angiomatosis) is characterized by a congenital facial birthmark and neurological abnormalities. (faces-cranio.org)
  • Sturge-Weber Syndrome (encephelotrigeminal angiomatosis) is a congenital, non-familial disorder of unknown incidence and cause. (sturge-weber.org)
  • Sturge-Weber syndrome (SWS) is a congenital disorder caused by the persistence of the transitory primordial sinusoidal plexus stage of vessel development. (medscape.com)
  • Sturge-Weber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. (medlineplus.gov)
  • In Sturge-Weber syndrome, there is usually abnormal formation and growth of blood vessels within the two thin layers of tissue that cover the brain and spinal cord. (medlineplus.gov)
  • Sturge-Weber syndrome is a problem with the way blood vessels grow in the skin, eyes, and brain. (kidshealth.org)
  • Sturge-Weber syndrome is with abnormal groups of blood vessels on the skin leading to a reddish color on one side of the face (port-wine birthmark, See figure 1) as well as groups of abnormal blood vessels in the brain. (aapos.org)
  • Sturge-Weber syndrome is a condition that affects the development of certain blood vessels and often leads to three major features: a red or pink birthmark called a port-wine birthmark, brain abnormalities, and increased pressure in the eye (glaucoma) or other eye problems. (medlineplus.gov)
  • Sturge-Weber syndrome (SWS) is the association of the facial port-wine birthmark with malformed leptomeningeal blood vessels and abnormal venous eye vessels. (johnshopkins.edu)
  • Sturge-Weber Syndrome (SWS) is a rare vascular malformation disorder characterized by abnormal blood vessels in the brain, skin, and eye. (johnshopkins.edu)
  • Ltd. successfully treated 21 months' old kid Alfa from Uganda who was unable to walk due to a rare neurological disorder called "Sturge-Weber Syndrome (SWS)"that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eye. (monvoyage.in)
  • Sturge-Weber syndrome is estimated to affect 1 in 20,000 to 50,000 individuals. (medlineplus.gov)
  • Sturge-Weber syndrome is a neurocutaneous syndrome that occurs in 1 in 50,000 people. (msdmanuals.com)
  • Sturge- Weber syndrome More Details More Details occurs sporadically with a frequency of 1 in 50,000. (pediatricneurosciences.com)
  • [1] This syndrome occurs sporadically with a frequency of approximately 1 in 50,000. (pediatricneurosciences.com)
  • The main clinical features of this syndrome are facial vascular cutaneous naevus, usually unilateral, which often follows the outline distribution of trigeminal nerve. (bvsalud.org)
  • Sturge-Weber syndrome is a mesodermal phakomatosis characterized by port-wine naevus covering face and cranium supplied by first division of trigeminal nerve along with atrophy and calcification of cerebral hemisphere homolateral to the skin lesion. (pediatricneurosciences.com)
  • Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research. (medlineplus.gov)
  • PTEN hamartoma tumor syndrome (PHTS) is a spectrum of disorders caused by mutations in the PTEN gene, which typically suppresses formation of tumors. (rarediseasesnetwork.org)
  • Unlike other neurocutaneous disorders (phakomatoses), Sturge-Weber occurs sporadically (i.e., does not have a hereditary cause). (wikipedia.org)
  • Tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS) are prototypical neurocutaneous disorders. (uspharmacist.com)
  • Tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS) are prototypical neurocutaneous disorders in which genetic mutations in pathways regulating cell growth cause developmental dysfunction of the brain, skin, and other organs. (uspharmacist.com)
  • While neurofibromatosis, tuberous sclerosis, and other neurocutaneous disorders have well-recognized inheritance patterns, port-wine nevi and Sturge-Weber syndrome occur sporadically. (aap.org)
  • These syndromes should also be differentiated from other primary headache disorders, such as stabbing headache, thunderclap headaches, hypnic headaches and hemicrania continua, and primary headache syndromes associated with physical activity (eg, exertional headaches, cough headaches, and headaches associated with sexual activity). (medscape.com)
  • 2021. https://nursing.unboundmedicine.com/nursingcentral/view/Tabers-Dictionary/762508/all/Sturge_Weber_syndrome. (unboundmedicine.com)
  • In Sturge-Weber syndrome, the mutation is thought to occur in a cell during early development before birth. (medlineplus.gov)
  • In 1987, Rudolf Happle suggested that the sporadic pattern of Sturge-Weber syndrome and other sporadic conditions could result from a post-conception somatic mosaic mutation. (aap.org)
  • The ophthalmologist van der Hoeve was the first to describe the phakomatoses as a clinical entity of diseases including tuberous sclerosis, neurofibromatosis, and von Hippel-Lindau and Sturge-Weber syndromes [ 11 ]. (hindawi.com)
  • Neurocutaneous syndromes are characterized by distinctive cutaneous stigmata and neurologic symptomology. (uspharmacist.com)
  • In addition to dermatologic, neurologic, and opthalmologic diagnostic evaluations, the Hunter Nelson Sturge-Weber Center provides other evaluation services including EEG, neuroradiologic, rehabilitative medicine and neuropsychologic evaluations. (kennedykrieger.org)
  • We report three new cases of patients with Sturge-Weber Syndrome and symptomatic retinal detachments from diffuse choroidal hemangiomas successfully treated with photodynamic therapy (PDT) and review medical literature on the available treatment options for choroidal hemangiomas. (northwestern.edu)
  • At the Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute, patient's visits are tailored to meet their individual needs and clinical services are coordinated accordingly. (kennedykrieger.org)
  • If you are interested in visiting the Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute, you may have questions about the services that we offer and the experience of the visit itself. (kennedykrieger.org)
  • Sturge-Weber is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal development. (wikipedia.org)
  • Some children with Sturge-Weber have learning problems or developmental delays. (kidshealth.org)
  • West syndrome is an age-dependent expression of a damaged brain, and most patients with infantile spasms have some degree of developmental delay. (medscape.com)
  • These providers include Dr. Comi (neurology and director of the Hunter-Nelson Sturge-Weber Center), Dr. Zabel (neuropsychology), Dr. Suskauer (medical rehabilitation), Teressa Reidy (Occupational Therapy) and Tracy Schneider (Physical Therapy). (kennedykrieger.org)
  • Comi AM. Sturge-Weber syndrome. (medlineplus.gov)
  • Non-penetrating deep sclerectomy for glaucoma associated with Sturge-Weber syndrome. (qxmd.com)
  • To report the results of non-penetrating deep sclerectomy (NPDS) in the treatment of glaucoma associated with Sturge-Weber syndrome (SWS). (qxmd.com)
  • citation needed] Sturge-Weber syndrome rarely affects other body organs. (wikipedia.org)
  • Treatment for Sturge-Weber syndrome is symptomatic. (wikipedia.org)
  • Patients are diagnosed with symptomatic infantile spasms if an identifiable factor is responsible for the syndrome. (medscape.com)
  • The most apparent indication of Sturge-Weber Syndrome is a facial birthmark or "Port Wine Stain" present at birth and typically involves at least one upper eyelid and the forehead. (sturge-weber.org)
  • I suspect he might have Sturge-Weber Syndrome,' the neurologist at BC Children's Hospital told us. (lovewhatmatters.com)
  • Sturge-Weber syndrome is a rare medical condition characterized by a facial Port Wine birthmark and varying degrees of glaucoma/and or seizure disorder. (sturge-weber.org)
  • Cite this: Sturge-Weber Syndrome - Medscape - Jan 01, 2008. (medscape.com)
  • In the September issue of Pediatrics in Review , Anna Poliner and colleagues provide a useful update of the management of port-wine vascular lesions and discuss the relationship of these lesions to Sturge-Weber syndrome . (aap.org)
  • Sturge-Weber syndrome is a systemic condition commonly affecting oral cavity through vascular lesions, therefore, dentists' knowledge is extremely important to provide an adequate dental treatment without complications. (bvsalud.org)
  • Infants affected with Sturge-Weber Syndrome are often monitored by a pediatrician, neurologist, ophthalmologist, and dermatologist. (sturge-weber.org)
  • These qualities have distinguished the Sturge-Weber Foundation (SWF) since 1987. (sturge-weber.org)
  • The SWF was incorporated in the USA in 1987 as an International 501(c)(3) non-profit organization for patients, parents, professionals, and others concerned with Sturge-Weber syndrome (SWS). (sturge-weber.org)
  • Multiple other body organs are rarely affected in Sturge-Weber syndrome. (sturge-weber.org)
  • Patients' ages ranged from 22 months to 71 years (median = 3.0 years) and included 5 cases of retinoblastoma, 1 case of idiopathic inflammatory pseudotumor, 1 case of T-cell lymphoma, and 1 case of Sturge- Weber syndrome. (omicsonline.org)
  • The incidence of glaucoma in patients with Sturge-Weber is approximately 70% and 40% for choroidal lesions. (sturge-weber.org)
  • What Are the Signs & Symptoms of Sturge-Weber Syndrome? (kidshealth.org)
  • When there are signs a baby may have Sturge-Weber syndrome, the doctor will do an exam and ask about symptoms. (kidshealth.org)
  • Other symptoms associated with Sturge-Weber can include eye and internal organ irregularities. (sturge-weber.org)
  • It is not a disease but a syndrome that is characterized by paroxysmal headache associated with other signs and symptoms. (medscape.com)
  • What are the symptoms of a neurocutaneous syndrome in a child? (uhhospitals.org)
  • Migraine variants should be differentiated from trigeminal autonomic cephalalgias, which include cluster headaches, paroxysmal hemicrania, and syndrome of neuralgiform conjunctival injection and tearing. (medscape.com)