Sturge-Weber syndrome

Sturge-Weber syndrome (SWS) is a rare congenital neurological and skin disorder [1]. It is characterized by the association of a facial birthmark called a port-wine birthmark, abnormal blood vessels in the brain, and eye abnormalities such as glaucoma [2].

The most common symptom of SWS is a port-wine stain, or birthmark, on the face, typically located near or around an eye [5]. The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries (small blood vessels) around the trigeminal nerve just beneath the surface of the face [11].

In addition to the facial birthmark, SWS can also cause neurological abnormalities, such as seizures, paralysis, strokes, migraines, learning disabilities, and intellectual disability [9]. Some children or adults may have an isolated intracranial variant, meaning abnormal brain blood vessels with no skin or eye symptoms [14].

Sturge-Weber syndrome is a rare disease where abnormal blood vessels in the brain, skin, and eye can cause various complications. It is not generally inherited and does not run in families [14].

Sturge-Weber syndrome (SWS) is a rare neurological disorder that affects the skin, brain, and eyes. The signs and symptoms of SWS can vary from person to person, but here are some common ones:

• Port-wine stain: A birthmark or port-wine nevus on the face, typically located near or around an eye, which is the most common symptom of SWS [4

Treatment Options for Sturge-Weber Syndrome

Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder that requires comprehensive management to alleviate its symptoms. While there is no specific treatment for SWS, various medications and therapies can help manage the condition.

• Anticonvulsants: Medications such as carbamazepine (Carbatrol) [5] and phenobarbital are commonly used to control seizures in patients with SWS [6].
• Beta-blockers: Beta-blockers like timolol may be prescribed to reduce glaucoma symptoms [2].
• Carbonic anhydrase inhibitors: These medications, such as acetazolamide, can help manage glaucoma and other symptoms associated with SWS [2].
• Prostaglandin analogs: Prostaglandin analogs like latanoprost may be used to treat glaucoma in patients with SWS [2].
• Low-dose aspirin: Recent studies suggest that low-dose aspirin may be beneficial in treating SWS, particularly in reducing seizure frequency [11].
• Cannabidiol (CBD): CBD has been shown to be effective in managing seizures and other symptoms associated with SWS [11].
• Sirolimus: This immunosuppressive medication has been used to treat SWS, particularly in cases where seizures are refractory to anticonvulsants [11].

Important Considerations

It is essential to note that the effectiveness of these treatments can vary depending on individual patient factors. A comprehensive treatment plan should be developed in consultation with a healthcare professional.

References:

[1] Context result 3 [2] Context result 2 [5] Context result 5 [6] Context result 6 [11] Context result 11

Differential Diagnosis of Sturge-Weber Syndrome

Sturge-Weber syndrome (SWS) is a rare genetic disorder characterized by the presence of a port-wine stain on the face, typically accompanied by neurological and ocular abnormalities. However, differentiating SWS from other conditions can be challenging due to overlapping symptoms.

Key Differential Diagnoses:

• Klippel-Trenaunay-Weber syndrome: This condition is characterized by capillary malformations that are more extensive than those found in SWS and involve the limbs. [5][6]
• PIK3CA-related overgrowth syndromes: These include conditions such as megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome, which can present with similar neurological abnormalities to SWS. [3]
• Angio-osseous-hypertrophic Syndrome: Also known as Klippel-Trénaunay-Weber's syndrome, this condition shares some similarities with SWS but typically involves more extensive capillary malformations and limb involvement. [4][6]
• Cerebral arteriovenous malformation (AVM): AVMs can present with similar neurological symptoms to SWS, including seizures and hemiparesis. [8]
• Infection: TORCH infections, such as toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, and syphilis, can cause similar neurological abnormalities to SWS. [8]
• Neurocysticercosis: This parasitic infection can present with seizures, hemiparesis, and other neurological symptoms similar to those found in SWS. [8]
• PHACE syndrome: This rare condition is characterized by the presence of a facial capillary malformation, along with cardiovascular abnormalities and eye defects. [8]

Other Conditions:

• Trauma: Head trauma can cause similar neurological symptoms to SWS, including seizures and hemiparesis. [7]
• Central nervous system infections: Infections such as meningitis or encephalitis can present with similar neurological symptoms to SWS. [7]
• Tumors: Brain tumors, such as gliomas or metastases, can cause similar neurological symptoms to SWS. [7]

References:

[1] Feb 14, 2024 — A major diagnostic difficulty can be separating a hemangioma of the choroid from a choroidal melanoma.

[2] by AK Singh · 2023 · Cited by 21 — Diagnosis of Sturge-Weber syndrome is based on typical clinical symptoms, facial appearance, and brain magnetic resonance imaging (MRI) findings.

[3] Differential diagnosis includes PIK3CA-related overgrowth syndromes, especially megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome.

[4] by FXP Neto · 2008 — The Sturge-Weber Syndrome differential diagnosis includes the angio-osseous-hypertrophic Syndrome, also known as Klippel-Trénaunay-Weber's syndrome that ...

[5] What is the differential diagnosis for Sturge–Weber syndrome? · Klippel–Trénaunay syndrome has more extensive capillary malformations, involves the limbs and ...

[6] by FXP Neto · 2008 — The Sturge-Weber Syndrome differential diagnosis includes the angio-osseous-hypertrophic Syndrome, also known as Klippel-Trénaunay-Weber's syndrome that ...

[7] by R Bertani · 2021 · Cited by 1 — These are mainly due to trauma, central nervous system infections, tumors, cerebrovascular accidents, metabolic disorders, and drugs [14]. SWS ...

[8] Oct 18, 2024 — Differential diagnosis · cerebral arteriovenous malformation (AVM) · infection. TORCH infection · neurocysticercosis · PHACE syndrome · healed ...