Wyburn-Mason Syndrome Research Articles

Wyburn-Mason Syndrome Associated with Thyroid Arteriovenous Malformation: A First Case Report

A 31-year-old woman with a prior history of Wyburn-Mason syndrome, complicated previously by a left thalamic intracerebral hemorrhage at age 21, complained of sudden left vision loss due to a central retinal vein occlusion. Angiography revealed a left thyroid arterio-venous malformation (AVM) in addition to ones found intracerebrally. The pathogenesis and embryogenesis of this finding including the management of AVMs in Wyburn-Mason syndrome are discussed.

A case report of Wyburn-Mason syndrome and review of the literature

Wyburn-Mason syndrome is a distinct congenital neurocutaneous entity comprised of ipsilateral arteriovenous malformations (AVMs) of the midbrain, vascular abnormalities affecting the visual pathway, and facial nevi. We report a case and review of the literature of all other reported cases of Wyburn-Mason syndrome (n = 26) in the English literature since 1973. In this review, we report on a 4(1/2)-year-old boy with Wyburn-Mason syndrome who presented with left retinal and orbital AVMs and a ruptured thalamic AVM. The patient did not respond to light in the left eye and demonstrated a left afferent pupillary defect. He did not have any cutaneous lesions. We also characterize other reported cases of Wyburn-Mason syndrome. The presentation of patients with Wyburn-Mason syndrome can vary greatly according to the site and the extent of vascular lesions. Intracranial AVMs occasionally hemorrhage with significant morbidity. Treatment is controversial, and patients are typically managed conservatively by observation.

Craniofacial Vascular Malformations in Wyburn-Mason Syndrome

Wyburn-Mason syndrome (WMS) is a rare syndrome associated with multiple arteriovenous malformations (AVMs) involving the orbit, brain and/or face. The purpose of this study was to analyze the imaging spectrums of craniofacial vascular malformations in 14 patients with WMS. The medical records of 14 patients with the diagnosis of WMS who underwent neuroimaging studies (computed tomography [CT], 8; magnetic resonance imaging [MRI], 12; conventional angiography, 14) were reviewed, emphasizing the location, extension and type of facial, orbital and brain vascular malformations. Complete WMS was defined as vascular malformations involving all the 3 zones of the face, orbit and brain, while partial WMS was considered as vascular malformation distributed in 2 zones. The craniofacial vascular malformations were confined on the left side in 7 patients, 2 were found on the right side, while the remaining other 5 patients had midline brain AVMs involving both sides. All but 1 of these 14 patients had orbital and/or brain AVMs; facial vascular malformations were documented in 5 patients. The most common site of involvement was the optic nerve (n = 12), followed by the retina (n = 10), optic chiasma/hypothalamus (n = 9), thalamus (n = 7), basal ganglion (n = 5), midbrain (n = 2), occipital lobe (n = 1), temporo-occipital lobe (n = 1) and fronto-temporo-parieto-occipital lobe (n = 1). The complete form of WMS was found in 2 patients and the partial form in 12. CT, MRI and conventional angiography have the capacity to demonstrate the extent of intracranial AVMs. However, MRI is superior to both CT and angiography for detecting the size, extent of AVMs and the effects of AVMs on adjacent brain. Conventional angiography is superior to both CT and MRI in determining the detailed angioarchitecture of AVMs. WMS has a wide spectrum of multiple AVMs involving unilateral or bilateral craniofacial regions. The most common involved site is the orbit, followed by the brain. WMS should be considered in patients with ocular AVMs associated with brain AVMs.

Retinal and Intracranial Arteriovenous Malformations: Wyburn-Mason Syndrome

A 7-year-old girl who failed a vision screening examination was found to have a retinal arteriovenous malformation (AVM) in her right eye along with a small angioma of her right lower lip. Magnetic resonance imaging and cerebral angiography revealed a large AVM involving the thalamus and basal ganglia as well as a small AVM involving the right ophthalmic artery. The combination of retinal and intracranial AVMs is known as Wyburn-Mason syndrome. The retinal AVMs of this syndrome do not grow or bleed. Visual loss is usually the result of optic neuropathy from associated orbitocranial AVMs. The natural course of the intracranial AVMs of this syndrome is poorly documented. However, they tend to be extensive and inaccessible and therefore difficult to treat.

Wyburn-Mason Syndrome

Wyburn-Mason syndrome is an uncommon condition in which arteriovenous malformations coexist in the visual brain area, in the retina, and in some cases, in the face. As a consequence, it has recently been defined as a brain-retino-facial angiomatosis. The syndrome results from an embryonary insult in the development of the optic nerve path and the related vessels from its origin in the mesencephalon all the way to the projection to the retina where it usually causes unilateral manifestations. Here the authors present an interesting case of this ailment and a review of the literature.

Retinal Vascular Tumors

Retinal vascular tumors can be classified into four distinct clinical entities, which include retinal capillary hemangioma, retinal cavernous hemangioma, retinal arteriovenous communications (Wyburn-Mason syndrome), and retinal vasoproliferative tumor.

Wyburn-Mason syndrome. Case report of unusual ipsilateral hemiparesis following subarachnoid hemorrhage

The Wyburn-Mason syndrome (WMS), also known as Bonnet-Dechaume-Blanc syndrome, is a rare phacomatosis with ipsilateral retinal, cerebral, and, less frequently, facial angiomas.WMS presents a high risk of subarachnoid hemorrhage (SAH). We discuss the case of a 22-year-old, mentally normal woman with right-sided WMS and unexpected ipsilateral hemiparesis following recurrent SAH. Magnetic resonance studies revealed angiomas in the right orbit, in the posterior cranial fossa, close to right hippocampal formation, and above the basal cistern, supplied by right internal and external carotid arteries. The mechanism of ipsilateral pyramidal deficit in our patient originating from the unaffected hemisphere remains unclear.

Wyburn-Mason or Bonnet-Dechaume-Blanc as Cerebrofacial Arteriovenous Metameric Syndromes (CAMS)

The diagnosis of Bonnet-Dechaume-Blanc or Wyburn-Mason syndrome encompasses a spectrum of phenotypic expression. Features of the syndrome as originally described, and common to all, include arteriovenous malformations of the brain and orbit (with retinal and/or retrobulbar lesions). A portion of these patients manifest the complete expression of the disease with additional high-flow arteriovenous malformations of the maxillofacial or mandibular regions. These present the distinct and additional risks of lifethreatening epistaxis or gingival haemorrhage. We suggest new diagnostic criteria for the syndrome. Applying insights from modern developmental biology to our series of 15 patients (the largest to date), together with a review of the literature, we have recognised metameric patterns of involvement in what we believe to be a disease of the neural crest or adjacent cephalic mesoderm. This allows us to propose a new rational classification reflecting the putative, underlying disorder and to suggest a new name: Cerebrofacial Arteriovenous Metameric Syndrome (CAMS).

Wyburn–Mason Syndrome Variant Treated with Stereotactic Radiosurgery

Classical Wyburn–Mason syndrome consists of unilateral arteriovenous malformations affecting the retina, midbrain, and visual pathways in the brain, and the facial structures. An unusual case of Wyburn–Mason syndrome with bilateral manifestations and without retinal involvement is described. A 19-year-old girl presented at the age of 5 with a left hemiparesis and aphasia following intracerebral hemorrhage in the right internal capsule and basal ganglia. Angiography demonstrated left sylvian, right frontoparietal, and right thalamic arteriovenous malformations (AVMs). In addition to multiple intracranial AVMs, she had multiple telangiectatic lesions scattered over her body. Ophthalmological examination was normal except for left orbital bruit. Two years later, with moderate clinical improvement, she had proton beam radiosurgery for her multiple AVMs. Due to lack of beneficial effect, repeat radiosurgery with more appropriate dose is under consideration. A review of the literature revealed that our presenting case represents one of the few reported cases of atypical Wyburn–Mason syndrome with bilateral manifestations and without retinal involvement. To our knowledge, ours represent the first reported case for which radiosurgery had been offered as a treatment modality.

On “Wyburn–Mason Syndrome Variant Treated with Stereotactic Radiosurgery” (Abdelaziz et al., This Issue)

On “Wyburn–Mason Syndrome Variant Treated with Stereotactic Radiosurgery” (Abdelaziz et al., This Issue)

Branch retinal vein obstruction secondary to retinal arteriovenous communication

PURPOSE: To document a branch retinal vein obstruction secondary to a congenital arteriovenous communication.METHOD: Case report of a young patient with retinal arteriovenous communication.RESULTS: A 12-year-old girl had a grade 2 retinal arteriovenous communication in her right eye. She was asymptomatic and was subsequently followed up. Magnetic resonance imaging of the brain was normal and disclosed no signs of Wyburn-Mason syndrome. Nine years later, she developed a branch retinal vein obstruction in the area of the arteriovenous communication. Six months later, the patient was free of secondary complications of branch retinal vein obstruction; however, she is being followed up to detect any retinal or iris neovascularization.CONCLUSION: Awareness of retinal vascular obstruction associated with arteriovenous communication may help its timely recognition, as well as prompt treatment of potential complications, such as retinal and iris neovascularization.

Retinocephalic vascular malformation: case report

A 12-year-old boy who presented with unilateral blindness and exophthalmos was found to have retinocephalic vascular malformations (Bonnet-Dechaumme-Blanc syndrome or Wyburn-Mason Syndrome). The ophthalmic, neurological and radiological findings of this rare syndrome are discussed.

Osteocalcin in male patients with rheumatoid arthritis

Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumours] and the central and peripheral nervous system [with congenital abnormalities and/or tumours]. In a number of such disorders, the skin abnormalities can assume a mosaic patterning (usually arranged in archetypical patterns). Alternating segments of affected and unaffected skin or segmentally arranged patterns of abnormal skin often mirror similar phenomena occurring in extra-cutaneous organs/tissues [eg, eye, bone, heart/vessels, lung, kidney and gut]. In some neurocutaneous syndromes the abnormal mosaic patterning involve mainly the skin and the nervous system configuring a (true) mosaic neurocutaneous disorder; or an ordinary trait of a neurocutaneous disorder is sometimes superimposed by a pronounced linear or otherwise segmental involvement; or, lastly, a neurocutaneous disorder can occur solely in a mosaic pattern. Recently, the molecular genetic and cellular bases of an increasing number of neurocutaneous disorders have been unravelled, shedding light on the interplays between common intra- and extra-neuronal signalling pathways encompassing receptor-protein and protein-to-protein cascades (eg, RAS, MAPK, mTOR, PI3K/AKT and GNAQ pathways), which are often responsible of the mosaic distribution of cutaneous and extra-cutaneous features. In this article we will focus on the well known, and less defined mosaic neurocutaneous phenotypes and their related molecular/genetic bases, including the mosaic neurofibromatoses and their related forms (ie, spinal neurofibromatosis and schwannomatosis); Legius syndrome; segmental arrangements in tuberous sclerosis; Sturge-Weber and Klippel-Trenaunay syndromes; microcephaly/megalencephaly-capillary malformation; blue rubber bleb nevus syndrome; Wyburn-Mason syndrome; mixed vascular nevus syndrome; PHACE syndrome; Incontinentia pigmenti; pigmentary mosaicism of the Ito type; neurocutaneous melanosis; cutis tricolor; speckled lentiginous syndrome; epidermal nevus syndromes; Becker’s nevus syndrome; phacomatosis pigmentovascularis and pigmentokeratotica; Proteus syndrome; and encephalocraniocutaneous lipomatosis.

Wyburn-Mason syndrome: Report of a rare case with computed tomography and angiographic evaluations

A case of Wyburn-Mason syndrome comprising unilateral retinocephalic vascular malformations is reported in a 7-year-old girl presenting with proptosis of the left eye associated with injection of the bulbar conjunctiva. This rare congenital vascular disorder is reviewed in the literature, and in particular the neuroradiological findings are detailed in the presented case.

Facial hemangioma with cerebrovascular anomalies and cerebellar hypoplasia

A 5-year-old female patient with a left facial strawberry nevus, ipsilateral optic atrophy and cerebellar signs was observed. Computed tomography and cerebral angiography confirmed left cerebellar hypoplasia and cerebrovascular abnormalities such as internal carotid arterial stenosis, basilar artery occlusion, and a saccular aneurysm of left carotid siphon, all of which are presumed to develop congenitally. This case may represent a new variety of neurocutaneous syndrome which is different from other syndromes associated with facial hemangioma, such as the Sturge-Weber syndrome and the Wyburn-Mason syndrome.

Wyburn-Mason syndrome. Report of two cases without retinal involvement.

Two patients with unilateral optic atrophy had both suprasellar and intraorbital arteriovenous malformations. The first had associated vascular lesions of the ipsilateral mandible and maxilla, while the second had an ipsilateral facial vascular lesion. To our knowledge, these are the first reported cases of the Wyburn-Mason syndrome in which retinal arteriovenous malformations are absent despite extensive intraorbital involvement with the malformation.