Sturge-Weber Syndrome


Article Author:
Achint Singh


Article Editor:
Michael Keenaghan


Editors In Chief:
Michael Labanowski


Managing Editors:
Orawan Chaigasame
Carrie Smith
Abdul Waheed
Frank Smeeks
Kristina Soman-Faulkner
Benjamin Eovaldi
Radia Jamil
Sobhan Daneshfar
Saad Nazir
William Gossman
Pritesh Sheth
Hassam Zulfiqar
Navid Mahabadi
Steve Bhimji
John Shell
Matthew Varacallo
Ahmad Malik
Mark Pellegrini
James Hughes
Beata Beatty
Hajira Basit
Phillip Hynes


Updated:
4/9/2019 7:31:11 PM

Introduction

Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome characterized by angiomas involving the face, choroid, and leptomeninges. The facial capillary vascular malformation is also known as "port wine stain" or "nevus flammeus" and usually is seen in the territory of the trigeminal nerve. Sturge-Weber syndrome is also called encephalotrigeminal angiomatosis. It is the third most common neurocutaneous syndrome after neurofibromatosis and tuberous sclerosis [1].

Etiology

Sturge-Weber syndrome is a sporadic developmental disorder caused by somatic mosaic mutations in the GNAQ gene which is located on the long arm of chromosome 9[2]. It has been postulated that the presence of facial and pial angiomas suggest the persistence of primordial sinusoidal vascular channels. Another possibility is that the superficial venous drainage of the brain never fully develops and the capillaries and small venous channels become dilated to compensate.

Epidemiology

The incidence of Sturge-Weber syndrome is not well known and estimated to be 1 in 20,000-50,000 live births.

Pathophysiology

Facial nevus is composed of multiple thin-walled vessels that resemble capillaries. The neuropathological finding is an angioma which consists of multiple capillaries and small venous channels and usually confined to the pia mater. There is a relative lack of superficial cortical veins, and the blood is shunted to the deep venous system by the enlarged medullary veins which result in stasis and ischemic changes.

History and Physical

A seizure is usually the first neurological manifestation of Sturge-Weber syndrome. Infantile spasms are seen in approximately 90% of affected patients in the first year of life followed by atonic, tonic, or myoclonic seizures. Increasing hemiparesis commonly accompanies seizures. Seizures progressively become refractory to medication [3]. Facial nevus (port wine stain) is another common finding and typically seen along the ophthalmic or maxillary segment of the trigeminal nerve (forehead, cheeks). It is typically unilateral, present at birth, and does not change with the age of the patient [4]. This appearance is in sharp contrast to the infantile hemangioma which is more common than port-wine stain; however, it is not present at birth. It slowly grows and is followed by involution. A child with a facial port wine stain has 10% to 35% risk of brain involvement. If there is involvement of both upper and lower eyelids, then the risk of glaucoma increases up to 50%. Glaucoma is almost always ipsilateral to the facial port-wine stain. Not all patients with port-wine stains have Sturge-Weber syndrome. Patients with Sturge-Weber syndrome may present with cerebral symptoms without facial findings. Ocular involvement in infancy may present with increased vascularity of the conjunctiva, eye enlargement, strabismus, and increased tearing. Other symptoms are mental retardation, early handedness, and gaze preferences. Diffuse choroidal hemangioma is seen in about 20% of patients with Sturge-Weber syndrome and is usually on the same side as a facial port-wine stain [5]. Choroidal hemangiomas grow slowly and usually do not cause any symptoms. Retina overlying the choroidal hemangioma may be normal; however, it may also show pathological changes such as epithelial atrophy/proliferation, drusen formation or detachment.

Evaluation

Diagnosis of Sturge-Weber syndrome is based on typical clinical symptoms, facial appearance, and brain MRI findings[6]. The ophthalmic examination is required to rule out glaucoma. Ocular ultrasound can demonstrate diffuse choroidal thickening which suggests choroidal hemangioma. Gyriform calcifications can be seen on the skull radiographs and classically described as "tram-track sign." CT is the best modality to detect calcifications and also show the other changes such as cortical atrophy and leptomeningeal enhancement on the post-contrast studies. However, CT uses ionizing radiation, and the routine use of CT in children is not recommended. Therefore, MRI of the brain with contrast is the recommended imaging modality of choice. The most common locations are occipital and posterior parietal/temporal lobes. The MRI findings depend on the stage of the disease. In the early phase, there is transient hyperperfusion with accelerated myelin maturation, leptomeningeal enhancement (seen as serpiginous enhancement along the sulci) and restricted diffusion if there is associated acute ischemic event. In the late phase, the increased T2 signal is seen in the region of gliosis with decreased pial enhancement and cortical atrophy. There is a lack of superficial cortical veins with prominent deep medullary/subependymal veins and enlarged choroid plexus. Gyriform calcifications are best seen on T2* or SWI (susceptibility weighted images) and appear as areas of signal loss along the gyri in a serpentine pattern. Patient with cutaneous and ocular manifestations with normal brain MRI at one year of age are unlikely to have brain involvement in the future. Choroidal angiomas can be seen on MRI as increased enhancement along the posterior choroid layer of the globe. FDG-PET may be a useful modality to study the cerebral metabolism in patients with Sturge-Weber syndrome. The affected area is usually hypermetabolic in the early stages with hypometabolism in the late stage [7]. PET may be useful in surgical planning when cortical resection is required for the treatment of intractable seizures.

Treatment / Management

There is no specific treatment for Sturge-Weber syndrome. The primary aim is to minimize seizures activity with anticonvulsive medications. Surgery may be considered in patients who fail the medical management and continue to have refractory seizures. The surgical procedures for Sturge-Weber syndrome include hemispherectomy or focal resection of the seizure focus. Patients with bilateral involvement are typically not good candidates for surgery [8]. Low-dose aspirin has also been shown to be effective in decreasing the frequency of seizures and stroke-like episodes [9]. An annual ophthalmologic examination is recommended even if the early evaluation does not detect glaucoma. The goal of glaucoma treatment is to reduce the intraocular fluid which decreases the intraocular pressure with subsequently decreased the risk of vision loss. The topical medication is considered first for late-onset glaucoma. The surgery is considered for patients with early-onset glaucoma and associated angle abnormalities and includes goniotomy or trabeculotomy. Further surgeries such as trabeculectomy or glaucoma drainage device may be considered for resistant patients [10]. The port-wine stain can be treated with laser photocoagulation which results in irreversible damage to the blood vessels without damage to the other skin components. 

Pearls and Other Issues

Differential diagnoses of Sturge-Weber syndrome are Klippel-Trenaunay-Weber syndrome, blue rubber bleb nevus syndrome, Wyburg-Mason syndrome, and PHACES (posterior fossa abnormalities, hemangiomas, arterial anomalies, cardiac, eye, and sternal anomalies). However, the Sturge-Weber syndrome can easily be differentiated from these conditions based on clinical history, physical examination, and brain MRI findings.

Enhancing Healthcare Team Outcomes

The management of Sturge-Weber syndrome is multidisciplinary with the involvement of a geneticist, pediatricians, pediatric ophthalmologists, pediatric radiologists, pediatric neurologists, nurse practitioner, and pediatric neurosurgeons. There is no cure for the syndrome and all treatments are symptom-based. Besides preventing seizures, the children need an ophthalmology follow up because of glaucoma. The skin lesions are managed by the dermatologist. The prognosis for these patients is guarded and depends on the severity of associated anomalies.[11] (Level V)


  • Image 5736 Not availableImage 5736 Not available
    Contributed by Achint Singh
Attributed To: Contributed by Achint Singh

Interested in Participating?

We are looking for contributors to author, edit, and peer review our vast library of review articles and multiple choice questions. In as little as 2-3 hours you can make a significant contribution to your specialty. In return for a small amount of your time, you will receive free access to all content and you will be published as an author or editor in eBooks, apps, online CME/CE activities, and an online Learning Management System for students, teachers, and program directors that allows access to review materials in over 500 specialties.

Improve Content - Become an Author or Editor

This is an academic project designed to provide inexpensive peer-reviewed Apps, eBooks, and very soon an online CME/CE system to help students identify weaknesses and improve knowledge. We would like you to consider being an author or editor. Please click here to learn more. Thank you for you for your interest, the StatPearls Publishing Editorial Team.

Sturge-Weber Syndrome - Questions

Take a quiz of the questions on this article.

Take Quiz
A 4-year-old male presents with progressive seizures. On examination, he is found to have a left homonymous hemianopsia with mild left hemiparesis. Head CT is obtained and reveals cerebral calcifications along the cortex in a railroad track pattern. What is the most likely diagnosis?



Click Your Answer Below


Would you like to access teaching points and more information on this topic?

Improve Content - Become an Author or Editor and get free access to the entire database, free eBooks, as well as free CME/CE as it becomes available. If interested, please click on "Sign Up" to register.

Purchase- Want immediate access to questions, answers, and teaching points? They can be purchased above at Apps and eBooks.


Sign Up
An 11-month-old has multiple angiomas involving the face and leptomeninges. What is the most likely diagnosis?



Click Your Answer Below


Would you like to access teaching points and more information on this topic?

Improve Content - Become an Author or Editor and get free access to the entire database, free eBooks, as well as free CME/CE as it becomes available. If interested, please click on "Sign Up" to register.

Purchase- Want immediate access to questions, answers, and teaching points? They can be purchased above at Apps and eBooks.


Sign Up
A 16-month-old has angiomas involving the leptomeninges and face. What is the most likely diagnosis?



Click Your Answer Below


Would you like to access teaching points and more information on this topic?

Improve Content - Become an Author or Editor and get free access to the entire database, free eBooks, as well as free CME/CE as it becomes available. If interested, please click on "Sign Up" to register.

Purchase- Want immediate access to questions, answers, and teaching points? They can be purchased above at Apps and eBooks.


Sign Up
Which of the following congenital syndromes commonly present with facial port-wine stain?



Click Your Answer Below


Would you like to access teaching points and more information on this topic?

Improve Content - Become an Author or Editor and get free access to the entire database, free eBooks, as well as free CME/CE as it becomes available. If interested, please click on "Sign Up" to register.

Purchase- Want immediate access to questions, answers, and teaching points? They can be purchased above at Apps and eBooks.


Sign Up
A 3-year-old female has persistent focal epilepsy, intellectual disability, homonymous hemianopsia, and hemiparesis. CT of the brain shows cerebral cortex calcifications in a pattern that resembles railroad tracks. What is the most likely diagnosis?



Click Your Answer Below


Would you like to access teaching points and more information on this topic?

Improve Content - Become an Author or Editor and get free access to the entire database, free eBooks, as well as free CME/CE as it becomes available. If interested, please click on "Sign Up" to register.

Purchase- Want immediate access to questions, answers, and teaching points? They can be purchased above at Apps and eBooks.


Sign Up
What is the inheritance of Sturge-Weber disease?



Click Your Answer Below


Would you like to access teaching points and more information on this topic?

Improve Content - Become an Author or Editor and get free access to the entire database, free eBooks, as well as free CME/CE as it becomes available. If interested, please click on "Sign Up" to register.

Purchase- Want immediate access to questions, answers, and teaching points? They can be purchased above at Apps and eBooks.


Sign Up
Which of the following is not typically associated with Sturge-Weber syndrome?



Click Your Answer Below


Would you like to access teaching points and more information on this topic?

Improve Content - Become an Author or Editor and get free access to the entire database, free eBooks, as well as free CME/CE as it becomes available. If interested, please click on "Sign Up" to register.

Purchase- Want immediate access to questions, answers, and teaching points? They can be purchased above at Apps and eBooks.


Sign Up
Which of the following statements is NOT true regarding Sturge-Weber Syndrome?



Click Your Answer Below


Would you like to access teaching points and more information on this topic?

Improve Content - Become an Author or Editor and get free access to the entire database, free eBooks, as well as free CME/CE as it becomes available. If interested, please click on "Sign Up" to register.

Purchase- Want immediate access to questions, answers, and teaching points? They can be purchased above at Apps and eBooks.


Sign Up
Which of the following statements about Sturge-Weber syndrome is false?



Click Your Answer Below


Would you like to access teaching points and more information on this topic?

Improve Content - Become an Author or Editor and get free access to the entire database, free eBooks, as well as free CME/CE as it becomes available. If interested, please click on "Sign Up" to register.

Purchase- Want immediate access to questions, answers, and teaching points? They can be purchased above at Apps and eBooks.


Sign Up
Which neurocutaneous syndrome is associated with lobar cerebral atrophy, pial enhancement, choroid plexus enlargement, and can be diagnosed on CT?



Click Your Answer Below


Would you like to access teaching points and more information on this topic?

Improve Content - Become an Author or Editor and get free access to the entire database, free eBooks, as well as free CME/CE as it becomes available. If interested, please click on "Sign Up" to register.

Purchase- Want immediate access to questions, answers, and teaching points? They can be purchased above at Apps and eBooks.


Sign Up
Which of the following is not characteristic of Sturge-Weber syndrome?



Click Your Answer Below


Would you like to access teaching points and more information on this topic?

Improve Content - Become an Author or Editor and get free access to the entire database, free eBooks, as well as free CME/CE as it becomes available. If interested, please click on "Sign Up" to register.

Purchase- Want immediate access to questions, answers, and teaching points? They can be purchased above at Apps and eBooks.


Sign Up
A patient with a port-wine stain from the upper eyelid to the hairline has delayed developmental milestones. What test should be ordered?



Click Your Answer Below


Would you like to access teaching points and more information on this topic?

Improve Content - Become an Author or Editor and get free access to the entire database, free eBooks, as well as free CME/CE as it becomes available. If interested, please click on "Sign Up" to register.

Purchase- Want immediate access to questions, answers, and teaching points? They can be purchased above at Apps and eBooks.


Sign Up
A patient has a port wine stain from the upper eyelid to the hairline and developmental delays. Which of the following specialists should be consulted?



Click Your Answer Below


Would you like to access teaching points and more information on this topic?

Improve Content - Become an Author or Editor and get free access to the entire database, free eBooks, as well as free CME/CE as it becomes available. If interested, please click on "Sign Up" to register.

Purchase- Want immediate access to questions, answers, and teaching points? They can be purchased above at Apps and eBooks.


Sign Up
A 14-year-old female comes to your clinic to discuss a birthmark on her face. It is located on her right forehead and cheek and has been present since birth. It is dark red and takes up a large portion of the affected areas. It has always annoyed her but now that she is in high school, she has become increasingly anxious about its presence. She asks, "Why it is there anyway?" What should she be told?



Click Your Answer Below


Would you like to access teaching points and more information on this topic?

Improve Content - Become an Author or Editor and get free access to the entire database, free eBooks, as well as free CME/CE as it becomes available. If interested, please click on "Sign Up" to register.

Purchase- Want immediate access to questions, answers, and teaching points? They can be purchased above at Apps and eBooks.


Sign Up
Which of the following is classic finding on skull radiograph in a patient with Sturge-Weber syndrome?



Click Your Answer Below


Would you like to access teaching points and more information on this topic?

Improve Content - Become an Author or Editor and get free access to the entire database, free eBooks, as well as free CME/CE as it becomes available. If interested, please click on "Sign Up" to register.

Purchase- Want immediate access to questions, answers, and teaching points? They can be purchased above at Apps and eBooks.


Sign Up
Which one of the following is not a feature of Sturge-Weber syndrome on MRI?



Click Your Answer Below


Would you like to access teaching points and more information on this topic?

Improve Content - Become an Author or Editor and get free access to the entire database, free eBooks, as well as free CME/CE as it becomes available. If interested, please click on "Sign Up" to register.

Purchase- Want immediate access to questions, answers, and teaching points? They can be purchased above at Apps and eBooks.


Sign Up
Which one of the following is true about Sturge-Weber syndrome (SWS)?



Click Your Answer Below


Would you like to access teaching points and more information on this topic?

Improve Content - Become an Author or Editor and get free access to the entire database, free eBooks, as well as free CME/CE as it becomes available. If interested, please click on "Sign Up" to register.

Purchase- Want immediate access to questions, answers, and teaching points? They can be purchased above at Apps and eBooks.


Sign Up
What is the most common location of pial angiomas?



Click Your Answer Below


Would you like to access teaching points and more information on this topic?

Improve Content - Become an Author or Editor and get free access to the entire database, free eBooks, as well as free CME/CE as it becomes available. If interested, please click on "Sign Up" to register.

Purchase- Want immediate access to questions, answers, and teaching points? They can be purchased above at Apps and eBooks.


Sign Up

Sturge-Weber Syndrome - References

References

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ., Shirley MD,Tang H,Gallione CJ,Baugher JD,Frelin LP,Cohen B,North PE,Marchuk DA,Comi AM,Pevsner J,, The New England journal of medicine, 2013 May 23     [PubMed]
Update on Sturge-Weber syndrome: diagnosis, treatment, quantitative measures, and controversies., Comi AM,, Lymphatic research and biology, 2007     [PubMed]
Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome., Pinto A,Sahin M,Pearl PL,, F1000Research, 2016     [PubMed]
Analysis of Sturge-Weber syndrome: A retrospective study of multiple associated variables., Maraña Pérez AI,Ruiz-Falcó Rojas ML,Puertas Martín V,Domínguez Carral J,Carreras Sáez I,Duat Rodríguez A,Sánchez González V,, Neurologia (Barcelona, Spain), 2016 Mar 7     [PubMed]
Sturge-Weber syndrome., Comi AM,, Handbook of clinical neurology, 2015     [PubMed]
Facial port-wine stains and Sturge-Weber syndrome., Enjolras O,Riche MC,Merland JJ,, Pediatrics, 1985 Jul     [PubMed]
Sturge-Weber syndrome: a study of cerebral glucose utilization with positron emission tomography., Chugani HT,Mazziotta JC,Phelps ME,, The Journal of pediatrics, 1989 Feb     [PubMed]
Sturge-Weber syndrome: indications and results of surgery in 20 patients., Arzimanoglou AA,Andermann F,Aicardi J,Sainte-Rose C,Beaulieu MA,Villemure JG,Olivier A,Rasmussen T,, Neurology, 2000 Nov 28     [PubMed]
Survey of aspirin use in Sturge-Weber syndrome., Bay MJ,Kossoff EH,Lehmann CU,Zabel TA,Comi AM,, Journal of child neurology, 2011 Jun     [PubMed]
Thavikulwat AT,Edward DP,AlDarrab A,Vajaranant TS, Pathophysiology and management of glaucoma associated with phakomatoses. Journal of neuroscience research. 2019 Jan     [PubMed]
Higueros E,Roe E,Granell E,Baselga E, Sturge-Weber Syndrome: A Review. Actas dermo-sifiliograficas. 2017 Jun;     [PubMed]

Disclaimer

The intent of StatPearls is to provide practice questions and explanations to assist you in identifying and resolving knowledge deficits. These questions and explanations are not intended to be a source of the knowledge base of all of medicine, nor is it intended to be a board or certification review of Clinical Neurology-Medical Student. The authors or editors do not warrant the information is complete or accurate. The reader is encouraged to verify each answer and explanation in several references. All drug indications and dosages should be verified before administration.

StatPearls offers the most comprehensive database of free multiple-choice questions with explanations and short review chapters ever developed. This system helps physicians, medical students, dentists, nurses, pharmacists, and allied health professionals identify education deficits and learn new concepts. StatPearls is not a board or certification review system for Clinical Neurology-Medical Student, it is a learning system that you can use to help improve your knowledge base of medicine for life-long learning. StatPearls will help you identify your weaknesses so that when you are ready to study for a board or certification exam in Clinical Neurology-Medical Student, you will already be prepared.

Our content is updated continuously through a multi-step peer review process that will help you be prepared and review for a thorough knowledge of Clinical Neurology-Medical Student. When it is time for the Clinical Neurology-Medical Student board and certification exam, you will already be ready. Besides online study quizzes, we also publish our peer-reviewed content in eBooks and mobile Apps. We also offer inexpensive CME/CE, so our content can be used to attain education credits while you study Clinical Neurology-Medical Student.