Last updated:
9/17/2024
Years published: 1988, 1989, 2001, 2010, 2017, 2020, 2024
NORD gratefully acknowledges Gioconda Alyea, MD (FMG), MS, National Organization for Rare Disorders and Subahari Raviskanthan, MD, Neuro-Ophthalmology Fellow and Andrew G. Lee MD, Chair, Blanton Eye Institute, Houston Methodist Hospital, for assistance in the preparation of this report.
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Summary
Wyburn-Mason syndrome is a rare nonhereditary disorder that is present at birth (congenital). Affected infants have arteriovenous malformations (AVMs), which are developmental abnormalities affecting the blood vessels, specifically the arteries, veins and capillaries. Arteries typically carry oxygen-rich blood from the heart to body cells, while veins transport oxygen-deficient blood to the heart and lungs for the exchange of oxygen and carbon dioxide. The network of very tiny blood vessels (capillaries) that normally connect arteries and veins may be absent, and the arteries and veins may be directly linked together forming a malformation. Without the capillaries, there can be damage to the walls of the arteries and veins, causing abnormal and high blood flow and leakage, and lack of blood flow further downstream. Larger AVMs may consist of a tangled mass of abnormal or malformed blood vessels (the nidus). AVMs associated with Wyburn-Mason syndrome are usually found in the eyes (retina) and brain. The exact cause of Wyburn-Mason syndrome is unknown, although it is hypothesized that during early development, the precursor cells to blood vessels have abnormal movement (migration) causing abnormal development later.
Introduction
The disorder is named for Dr. R. Wyburn-Mason who extensively described the disease entity in 1943. It is also referred to as Bonnet-Dechaume-Blanc syndrome after 3 investigators who identified AVMs in the face, retina and brain in 1937.
Wyburn-Mason syndrome is sometimes grouped with the phakomatoses or neurocutaneous syndromes. This broad group of disorders is characterized by masses or tumors that may grow in the brain, spinal cord and other organs. In children, skin lesions are also prominent. Unlike other so-called phakomatoses, people with Wyburn-Mason syndrome rarely have skin abnormalities.
The symptoms associated with Wyburn-Mason syndrome vary greatly among affected individuals based upon the specific number and location(s) of associated arteriovenous malformations. Affected infants may have abnormalities affecting the eyes, central nervous system and, in rare cases, the skin.
In Wyburn-Mason syndrome, AVMs may range from absence of the capillaries to the presence of large masses of widened, twisted, tangled blood vessels known as a racemose hemangioma. Absence of capillaries results in the abnormal, direct connection of the arteries to the veins. This abnormal connection can result in excessive blood flow and subsequently inadequate blood flow (ischemia) further downstream.
AVMs in Wyburn-Mason syndrome often affect the thin layer of nerve cells that lines the back of the eyes (retina). In some people, an AVM may extend into the eye socket (orbit) or brain. The specific symptoms associated with an ocular AVM vary depending upon the exact location and extent of the abnormality.
Additional eye abnormalities may occur in some people with Wyburn-Mason syndrome including:
AVMs of the central nervous system may not cause any symptoms (asymptomatic) or can cause severe symptoms. Although AVMs are present at birth, in many people they may not cause symptoms until the second or third decade of life or even later. Neurological symptoms associated with Wyburn-Mason syndrome include:
Spontaneous bleeding (hemorrhaging) of these lesions can lead to the sudden onset of symptoms. If the bleeding is severe, it can cause partial or full paralysis of one side of the body (hemiparesis or hemiplegia) or even death.
Other problems may include:
The exact cause of Wyburn-Mason syndrome is unknown. It is considered a developmental abnormality characterized by AVMs. No specific genetic abnormality or hereditary tendencies have been identified. The specific, underlying mechanism(s) that cause AVMs in Wyburn-Mason syndrome are not known. However, they are thought to result from abnormalities of blood vessel development during embryonic or fetal growth.
Wyburn-Mason syndrome is an extremely rare disorder that appears to affect males and females in equal numbers. The incidence or prevalence rates of Wyburn-Mason syndrome in the general population are unknown, with less than 100 cases reported.
A diagnosis of Wyburn-Mason syndrome may be made based upon a thorough clinical evaluation, a detailed patient history, and identification of characteristic findings, especially ocular findings. Imaging studies such as a computed tomography (CT) scan or magnetic resonance imaging (MRI) may be performed to detect potentially dangerous central nervous system (CNS) malformations. During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures. An MRI uses a magnetic field to produce cross-sectional images of organs such as the brain. Dye (contrast) can be injected into blood vessels and X-ray images taken (cerebral angiogram) to see AVMs in the brain, or photos can be taken of the back of the eye (fluorescein angiogram) to detect the AVM in the eye. The combination of AVM in the brain and eye makes the diagnosis of Wyburn Mason syndrome.
Treatment
Wyburn-Mason syndrome is a rare condition for which there is no specific treatment, and care is focused on managing symptoms as they appear. In some people, the arteriovenous malformations (AVMs) associated with the condition may not require any treatment, especially if they are stable and don’t cause any problems, such as in the retina.
If the AVMs in the eyes cause bleeding in the retina or the clear gel in the center of the eye (vitreous), treatments like laser therapy or cryosurgery (using extreme cold to destroy abnormal tissue) can be used to control the bleeding. In cases where the bleeding continues, a surgery called vitrectomy, which removes the vitreous, might be considered, though it is a controversial option.
For managing symptoms like vision loss from macular edema (swelling in the retina), a medication called bevacizumab (an anti-VEGF drug) has been shown to help in the short term. However, more studies are needed to understand the best treatments for advanced cases of Wyburn-Mason syndrome, including whether intravenous bevacizumab might be effective.
Other treatment options, like endovascular techniques, surgery, or radiosurgery, may also be considered, especially for AVMs in the brain or other areas. However, conservative treatment (observation) is sometimes preferred due to the high risk of the AVM coming back after treatment.
Arteriovenous malformations (AVMs) inside the skull (known as intracranial AVMs) can be treated in three main ways: surgery, radiation, or embolization. Many AVMs can be completely removed through surgery, which is often the preferred option if the AVM is in an accessible part of the brain. However, some AVMs are in areas of the brain that make surgery too risky. In those cases, radiation treatment is a better option.
Radiation is delivered directly to the AVM through a process called radiosurgery. Different types of stereotactic radiosurgery can be used, such as Linac, Gamma Knife, or Cyberknife, all of which target the AVM with high precision.
Another option, endovascular embolization, involves using a catheter to block off the abnormal blood vessels. This can help reduce the blood flow to the AVM and may be used alone or in combination with surgery or radiation.
Consulting with a neurosurgeon is important to determine the best treatment approach for each individual AVM.
Regular monitoring is important to detect any new lesions or involvement of the other side of the body, but more research is needed to determine how often and in what way this monitoring should be done.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
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Email: [email protected]
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com
For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialregister.eu/
TEXTBOOKS
Shields JA. NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:667.
JOURNAL ARTICLES
Barros LL, Lima PLGSB, de Oliveira Júnior PH, Dias DA, Santos CF, Braga-Neto P, Nóbrega PR. Peculiar aetiology for orbital apex syndrome: Wyburn-Mason syndrome as orbital apex lesion. BMJ Neurol Open. 2024 Jan 18;6(1):e000559. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10806852/
Skorin L, Jr., Simmons DK. Wyburn-Mason syndrome. Mayo Clin Proc. 2008;83:135.
Dayani PN, Sadun AA. A case report of Wyburn-Mason syndrome and review of the literature. Neuroradiology. 2007;49:445-56.
Reck SD, Zacks DN, Eibschitz-Tsimhoni M. Retinal and intracranial arteriovenous malformations: Wyburn-Mason syndrome. J Neuroophthalmol. 2005;25:205-8.
Ponce FA, Han PP, Spetzler RF, Canady A, Feiz-Erfan I. Associated arteriovenous malformation of the orbit and brain: a case of Wyburn-Mason syndrome without retinal involvement. Case Report. J Neurosurg. 2001;95:346-9.
Patel U, Gupta SC. Wyburn-Mason syndrome. A case report and review of the literature. Neuroradiology. 1990;31:544-46.
Wyburn-Mason R. Arteriovenous aneurysm of mid-brain and retina, facial naevi and mental changes. Brain. 1943;66:163-203.
INTERNET
Lee AG and Ryu BU. Wyburn-Mason Syndrome. Medscape. Updated: Jun 19, 2019. Available at: https://emedicine.medscape.com/article/1219502-clinical Accessed Sept 17, 2024.
Arteriovenous Malformations Information Page. National Institute of Neurological Disorders and Stroke. Updated: July 19, 2024. Available at: https://www.ninds.nih.gov/Disorders/All-Disorders/Arteriovenous-Malformation-Information-Page Accessed Sept 17, 2024.
So JM, Mishra C, Holman RE. Wyburn-Mason Syndrome. [Updated 2023 Jun 26]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK493218/ Accessed Sept 17, 2024.
S T, Tripathy K. Retinal Vascular Anomalies (VHL, Cavernous Hemangioma, Wyburn-Mason) [Updated 2024 May 2]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK603735/ Accessed Sept 17, 2024.
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