Sturge–Weber syndrome: Difference between revisions
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[[File:Sturge-Weber_CT.jpg|Sturge-Weber CT| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Sturge–Weber syndrome | |||
| image = [[File:Sturge-Weber_CT.jpg|alt=CT scan showing Sturge-Weber syndrome]] | |||
| caption = CT scan showing Sturge-Weber syndrome | |||
| synonyms = Encephalotrigeminal angiomatosis | |||
| pronounce = | |||
| specialty = [[Neurology]], [[Dermatology]] | |||
| symptoms = [[Port-wine stain]], [[seizures]], [[glaucoma]], developmental delay | |||
| complications = [[Epilepsy]], [[hemiparesis]], [[cognitive impairment]] | |||
| onset = [[Congenital]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Somatic mutation]] in the [[GNAQ gene]] | |||
| risks = | |||
| diagnosis = [[Clinical diagnosis]], [[MRI]], [[CT scan]] | |||
| differential = [[Klippel–Trénaunay syndrome]], [[Parkes Weber syndrome]] | |||
| prevention = None | |||
| treatment = [[Anticonvulsants]], [[laser therapy]], [[eye drops]] for glaucoma | |||
| medication = | |||
| prognosis = Variable, depends on severity | |||
| frequency = 1 in 20,000 to 50,000 live births | |||
| deaths = | |||
}} | |||
'''Sturge–Weber syndrome''' ('''SWS''') is a rare congenital [[neurocutaneous disorder]] characterized by a distinctive facial [[port-wine stain]], neurological abnormalities, and eye problems. It is also known as '''encephalotrigeminal angiomatosis'''. The condition is named after [[William Allen Sturge]] and [[Frederick Parkes Weber]], who first described it in the 19th century. | |||
== Clinical Features == | == Clinical Features == | ||
Sturge–Weber syndrome is typically identified by the presence of a facial [[port-wine stain]] (nevus flammeus), which is a type of [[capillary malformation]]. This birthmark is usually located on the forehead and upper eyelid of one side of the face and follows the distribution of the [[trigeminal nerve]]. | Sturge–Weber syndrome is typically identified by the presence of a facial [[port-wine stain]] (nevus flammeus), which is a type of [[capillary malformation]]. This birthmark is usually located on the forehead and upper eyelid of one side of the face and follows the distribution of the [[trigeminal nerve]]. | ||
=== Neurological Manifestations === | === Neurological Manifestations === | ||
Individuals with SWS often experience neurological symptoms due to the presence of leptomeningeal angiomas, which are abnormal blood vessels on the surface of the brain. These symptoms can include: | Individuals with SWS often experience neurological symptoms due to the presence of leptomeningeal angiomas, which are abnormal blood vessels on the surface of the brain. These symptoms can include: | ||
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* [[Intellectual disability]] | * [[Intellectual disability]] | ||
* [[Migraines]] | * [[Migraines]] | ||
=== Ocular Manifestations === | === Ocular Manifestations === | ||
Eye problems associated with SWS can include: | Eye problems associated with SWS can include: | ||
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* [[Buphthalmos]] (enlarged eyeball) | * [[Buphthalmos]] (enlarged eyeball) | ||
* [[Choroidal hemangioma]] | * [[Choroidal hemangioma]] | ||
== Pathophysiology == | == Pathophysiology == | ||
The exact cause of Sturge–Weber syndrome is not fully understood, but it is believed to result from a somatic mutation in the [[GNAQ gene]]. This mutation leads to abnormal blood vessel development in the affected areas. | The exact cause of Sturge–Weber syndrome is not fully understood, but it is believed to result from a somatic mutation in the [[GNAQ gene]]. This mutation leads to abnormal blood vessel development in the affected areas. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of SWS is primarily clinical, based on the characteristic facial port-wine stain and neurological symptoms. Imaging studies such as [[MRI]] and [[CT scan]] can help identify leptomeningeal angiomas. [[Ophthalmologic]] examination is essential to detect glaucoma and other eye abnormalities. | Diagnosis of SWS is primarily clinical, based on the characteristic facial port-wine stain and neurological symptoms. Imaging studies such as [[MRI]] and [[CT scan]] can help identify leptomeningeal angiomas. [[Ophthalmologic]] examination is essential to detect glaucoma and other eye abnormalities. | ||
== Treatment == | == Treatment == | ||
There is no cure for Sturge–Weber syndrome, and treatment is symptomatic and supportive. Management strategies include: | There is no cure for Sturge–Weber syndrome, and treatment is symptomatic and supportive. Management strategies include: | ||
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* [[Surgery]] for glaucoma | * [[Surgery]] for glaucoma | ||
* [[Physical therapy]] and [[occupational therapy]] for developmental delays | * [[Physical therapy]] and [[occupational therapy]] for developmental delays | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with SWS varies widely depending on the severity of symptoms. Early intervention and comprehensive management can improve the quality of life for affected individuals. | The prognosis for individuals with SWS varies widely depending on the severity of symptoms. Early intervention and comprehensive management can improve the quality of life for affected individuals. | ||
== See also == | |||
== | |||
* [[Neurocutaneous syndromes]] | * [[Neurocutaneous syndromes]] | ||
* [[Port-wine stain]] | * [[Port-wine stain]] | ||
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* [[Glaucoma]] | * [[Glaucoma]] | ||
[[Category:Neurocutaneous conditions]] | [[Category:Neurocutaneous conditions]] | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
[[Category:Ophthalmology]] | [[Category:Ophthalmology]] | ||
{{Neurocutaneous-stub}} | {{Neurocutaneous-stub}} | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 18:23, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Sturge–Weber syndrome | |
|---|---|
| |
| Synonyms | Encephalotrigeminal angiomatosis |
| Pronounce | |
| Specialty | Neurology, Dermatology |
| Symptoms | Port-wine stain, seizures, glaucoma, developmental delay |
| Complications | Epilepsy, hemiparesis, cognitive impairment |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Somatic mutation in the GNAQ gene |
| Risks | |
| Diagnosis | Clinical diagnosis, MRI, CT scan |
| Differential diagnosis | Klippel–Trénaunay syndrome, Parkes Weber syndrome |
| Prevention | None |
| Treatment | Anticonvulsants, laser therapy, eye drops for glaucoma |
| Medication | |
| Prognosis | Variable, depends on severity |
| Frequency | 1 in 20,000 to 50,000 live births |
| Deaths | |
Sturge–Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by a distinctive facial port-wine stain, neurological abnormalities, and eye problems. It is also known as encephalotrigeminal angiomatosis. The condition is named after William Allen Sturge and Frederick Parkes Weber, who first described it in the 19th century.
Clinical Features[edit]
Sturge–Weber syndrome is typically identified by the presence of a facial port-wine stain (nevus flammeus), which is a type of capillary malformation. This birthmark is usually located on the forehead and upper eyelid of one side of the face and follows the distribution of the trigeminal nerve.
Neurological Manifestations[edit]
Individuals with SWS often experience neurological symptoms due to the presence of leptomeningeal angiomas, which are abnormal blood vessels on the surface of the brain. These symptoms can include:
- Seizures
- Hemiparesis (weakness on one side of the body)
- Developmental delay
- Intellectual disability
- Migraines
Ocular Manifestations[edit]
Eye problems associated with SWS can include:
- Glaucoma
- Buphthalmos (enlarged eyeball)
- Choroidal hemangioma
Pathophysiology[edit]
The exact cause of Sturge–Weber syndrome is not fully understood, but it is believed to result from a somatic mutation in the GNAQ gene. This mutation leads to abnormal blood vessel development in the affected areas.
Diagnosis[edit]
Diagnosis of SWS is primarily clinical, based on the characteristic facial port-wine stain and neurological symptoms. Imaging studies such as MRI and CT scan can help identify leptomeningeal angiomas. Ophthalmologic examination is essential to detect glaucoma and other eye abnormalities.
Treatment[edit]
There is no cure for Sturge–Weber syndrome, and treatment is symptomatic and supportive. Management strategies include:
- Anticonvulsant medications for seizures
- Laser therapy for port-wine stains
- Surgery for glaucoma
- Physical therapy and occupational therapy for developmental delays
Prognosis[edit]
The prognosis for individuals with SWS varies widely depending on the severity of symptoms. Early intervention and comprehensive management can improve the quality of life for affected individuals.
See also[edit]
