Brain Stem Infarctions
Differential Threshold
Down Syndrome
Metabolic Syndrome X
Plant Nectar
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.
Sturge-Weber syndrome
William Allen Sturge
Michael W. Berns
Frederick Parkes Weber
Alternating hemiplegia
Phakomatosis
Patricia Flint Borns
Nd:YAG laser
Susan Curtiss
Epilepsy
Heterochromia iridum
Parkes Weber syndrome
Port-wine stain
Tram track (medicine)
GNAQ
Anne Comi
Weber's syndrome
Spastic gait
Digital polymerase chain reaction
Developmental venous anomaly
Rudolf Schirmer
Oral mucosa
Frontal lobe epilepsy
Primary juvenile glaucoma
Temporal lobe epilepsy
Birthmark
Susceptibility weighted imaging
Human tooth
Dens evaginatus
Angiomatosis
Sturge-Weber syndrome - Wikipedia
Sturge-Weber syndrome: MedlinePlus Genetics
Sturge-Weber Syndrome (for Parents) - Primary Children's Hospital
Sturge-Weber Syndrome: Practice Essentials, Background, Pathophysiology
Neurocutaneous Disorders: Tuberous Sclerosis Complex and Sturge-Weber Syndrome
Sturge-Weber Syndrome - American Association for Pediatric Ophthalmology and Strabismus
Sturge-Weber Syndrome | FACES
Accelerated myelination in early Sturge-Weber syndrome: MRI-SPECT correlations
Technetium-99m-HMPAO SPECT in Sturge-Weber Syndrome | Journal of Nuclear Medicine
Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An...
Sturge-Weber Syndrome Types : New to SWF : The Sturge-Weber Foundation
Treatment Services at the Hunter Nelson Sturge-Weber Syndrome Center | Kennedy Krieger Institute
Port-wine Birthmarks and Sturge-Weber Syndrome: The Challenge of Diagnosis and Management | AAP Journal Blogs | American...
Sturge-Weber Syndrome
Sturge-Weber Syndrome | Encyclopedia MDPI
GNAQ gene: MedlinePlus Genetics
Sturge-Weber Syndrome<...
Sturge-Weber syndrome | Taber's Medical Dictionary
Sturge-Weber syndrome: a case report
Sturge-Weber Syndrome - Pediatrics - MSD Manual Professional Edition
Imaging in Sturge-Weber Syndrome: Overview, Radiography, Computed Tomography
Non-penetrating deep sclerectomy for glaucoma associated with Sturge-Weber syndrome. | Read by QxMD
Course 10: Diagnosis and Management of Sturge-Weber Syndrome - The VBF Educate E-Learning Center
Sturge-Weber and Klippel-Trenaunay Syndrome With Nevus of Ota and Ito | JAMA Dermatology | JAMA Network
Vasogenic leakage and the mechanism of migraine with prolonged aura in Sturge-Weber syndrome<...
Find a Doctor
Molecules | Free Full-Text | Use of Cannabidiol in the Treatment of Epilepsy: Efficacy and Security in Clinical Trials
Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge-Weber syndrome<...
1st case of Sturge Weber Syndrome in India to be treated using the cell based therapy - Mon Voyage
Juvenile Glaucoma: Background, Pathophysiology, Epidemiology
Individuals with Sturge-Weber sy7
- 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)
Causes Sturge-Weber sy2
- 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)
Encephalotrigeminal angiomatosis3
- 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)
20231
- Sturge-Weber Syndrome" Encyclopedia , https://encyclopedia.pub/entry/3911 (accessed December 07, 2023). (encyclopedia.pub)
Birthmarks7
- 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)
People with Sturge-Weber sy7
- 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)
Diagnosis10
- 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)
Seizures8
- 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)
GNAQ7
- 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)
Klippel-Trenauna7
- 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)
Birthmark on the face2
- 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)
Nevus2
- 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)
Congenital3
- 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)
Blood vessels8
- 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)
50,0004
- 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)
Trigeminal nerve2
- 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)
Gene2
- 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)
Disorders5
- 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)
20211
- 2021. https://nursing.unboundmedicine.com/nursingcentral/view/Tabers-Dictionary/762508/all/Sturge_Weber_syndrome. (unboundmedicine.com)
Mutation2
- 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)
Neurofibromatosis1
- 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)
Neurologic2
- 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)
Diffuse choroidal1
- 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)
Kennedy Krieger Institute2
- 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)
Developmental3
- 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)
Comi2
- 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)
Glaucoma associated2
Citation1
- citation needed] Sturge-Weber syndrome rarely affects other body organs. (wikipedia.org)
Symptomatic2
- 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)
Facial birthmark1
- 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)
Children's Hospital1
- I suspect he might have Sturge-Weber Syndrome,' the neurologist at BC Children's Hospital told us. (lovewhatmatters.com)
Disorder1
- 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)
Medscape1
- Cite this: Sturge-Weber Syndrome - Medscape - Jan 01, 2008. (medscape.com)
Pediatrics1
- 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)
Systemic1
- 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)
Neurologist1
- Infants affected with Sturge-Weber Syndrome are often monitored by a pediatrician, neurologist, ophthalmologist, and dermatologist. (sturge-weber.org)
19872
- 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)
Body organs1
- Multiple other body organs are rarely affected in Sturge-Weber syndrome. (sturge-weber.org)
Retinoblastoma1
- 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)
Lesions1
- The incidence of glaucoma in patients with Sturge-Weber is approximately 70% and 40% for choroidal lesions. (sturge-weber.org)
Symptoms5
- 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)
Migraine1
- 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)