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Sturge-Weber Syndrome

Updated : July 27, 2022



Background

SWS is a rare neurological disorder with characterized by choroid, face, and leptomeninges angiomas.

Epidemiology

SWS has a very low incidence with only 1 case out of 20,000-50,000 births. There is no race bias in this condition, and both genders are affected equally.

Anatomy

Pathophysiology

The facial nevus is formed of many capillary-like vessels with thin walls. Typically restricted to the pia mater, the neuropathological feature is an angioma composed of numerous capillaries and tiny venous channels. Blood is diverted to the deep venous system by the larger medullary veins, leading to stasis and ischemic alterations.

Etiology

SQS is a developmental disorder which is the result of somatic mosaic mutations of the GNAQ gene. Angiomas of the facial region and pial region indicate that primordial sinusoidal vascular channels persist.

Another hypothesis is that small venous channels and capillaries of the brain become dilated to compensate for the partial development of the brain’s superficial venous drainage.

Genetics

Prognostic Factors

The prognosis of this condition is dependent on the severity of conditions associated with it.

Clinical History

Physical Examination

Age group

Associated comorbidity

Associated activity

Acuity of presentation

Differential Diagnoses

Laboratory Studies

Imaging Studies

Procedures

Histologic Findings

Staging

Treatment Paradigm

by Stage

by Modality

Chemotherapy

Radiation Therapy

Surgical Interventions

Hormone Therapy

Immunotherapy

Hyperthermia

Photodynamic Therapy

Stem Cell Transplant

Targeted Therapy

Palliative Care

Medication

Media Gallary

References

https://www.ncbi.nlm.nih.gov/books/NBK459163/

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Sturge-Weber Syndrome

Updated : July 27, 2022


SWS is a rare neurological disorder with characterized by choroid, face, and leptomeninges angiomas.

SWS has a very low incidence with only 1 case out of 20,000-50,000 births. There is no race bias in this condition, and both genders are affected equally.

The facial nevus is formed of many capillary-like vessels with thin walls. Typically restricted to the pia mater, the neuropathological feature is an angioma composed of numerous capillaries and tiny venous channels. Blood is diverted to the deep venous system by the larger medullary veins, leading to stasis and ischemic alterations.

SQS is a developmental disorder which is the result of somatic mosaic mutations of the GNAQ gene. Angiomas of the facial region and pial region indicate that primordial sinusoidal vascular channels persist.

Another hypothesis is that small venous channels and capillaries of the brain become dilated to compensate for the partial development of the brain’s superficial venous drainage.

The prognosis of this condition is dependent on the severity of conditions associated with it.

https://www.ncbi.nlm.nih.gov/books/NBK459163/

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Founded in 2014, medtigo is committed to providing high-quality, friendly physicians, transparent pricing, and a focus on building relationships and a lifestyle brand for medical professionals nationwide.

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CONTACT INFORMATION

ADDRESS

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North Adams, MA 01247

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Opp Kiosk Koffee,
Shirole Lane, Off FC Road,
Pune 411004, Maharashtra

 

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