Sturge-Weber syndrome

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Sturge-Weber syndrome


Autonomic nervous system disorders

Horner syndrome

Orthostatic hypotension


Sturge-Weber syndrome


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USMLE® Step 1 questions

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High Yield Notes

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Sturge-Weber syndrome

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USMLE® Step 1 style questions USMLE

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A 2-year-old girl is brought to the emergency department because of a tonic-clonic seizure which lasted for about 3 minutes. The parents deny any previous history of seizure disorder. Vital signs are within normal limits. The patient is well-appearing and playful. On physical examination, she has a pink birthmark on the right side of her face extending from the forehead to the zygomatic arch. Which of the following findings is most likely to be found on brain imaging of this patient?  

External References

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Sturge-Weber syndrome p. 543

Glaucoma p. 555

Sturge-Weber syndrome p. 543

Nevus flammeus

Sturge-Weber syndrome p. 543

Sturge-Weber syndrome p. 543, 719


Sturge-Weber syndrome is a congenital neurocutaneous disorder named after William Sturge and Frederick Weber, the first physicians to describe it.

Neurocutaneous because it affects the brain and the skin.

In fact, Sturge-Weber syndrome is also called encephalotrigeminal angiomatosis; encephalo- refers to the brain, trigeminal refers to the trigeminal or fifth cranial nerve, and angiomatosis refers to a vascular malformation.

That’s because in Sturge-Weber syndrome there are too many capillaries in the meninges covering the brain, as well as in some areas of the face that are innervated by the trigeminal nerve, like the forehead and upper eyelid.

Finally, in Sturge-Weber syndrome there’s often a congenital mark - a birthmark - called a port-wine stain.

When the embryo is one week old, it has two layers of cells: a dorsal or outer epiblast layer and a ventral or inner hypoblast layer.

During week 3 of development the embryo undergoes gastrulation where the cells in the epiblast layer form a three layered trilaminar disc with an ectoderm, mesoderm and endoderm layer.

The ectoderm is the dorsal most germ layer, and through a process called neurulation forms the neural tube.

From the neural tube, neural crest cells migrate to help form the central and peripheral nervous systems, as well as the cornea of the eyes and the epidermis layer of the fetal skin.

During week 6 of development, as the cephalic portion of the neural tube grows, a network of tiny blood vessels called a vascular plexus develops, to better supply that neural tissue.

There’s a gene called the GNAQ gene which codes for a guanine nucleotide-binding protein, and that protein is involved in development of the vascular plexus.


Sturge-Weber syndrome (SWS) is a rare neurological disorder caused by a mutation of the GNAQ gene and is characterized by the abnormal development of many capillaries in the meninges covering the brain, as well as in some areas of the face innervated by the trigeminal nerve, like the forehead and upper eyelid. The eye on the affected side may also develop glaucoma, with increased pressure in the eye, causing reduced vision or even blindness. There may also be brain atrophy, seizures, and muscle weakness, as well as developmental delay. There is no known cure for SWS, but symptomatic treatment may include anticonvulsants, hemispherectomy to remove the affected portion of the brain, and drugs like latanoprost to manage glaucoma.


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