Wyburn-Mason Syndrome

Ruggieri, Martino; Konez, Orhan; Rocco, Concezio Di

doi:10.1007/978-3-211-69500-5_14

Cited by 2 publications

(21 citation statements)

References 12 publications

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“…This patient exhibits a combination of neurological, ocular, and cutaneous lesions that are characteristic of WMS. [1][2][3][4]11,15 He was found to have a deep cerebral and an orbital AVM during workup for severe right temporal headaches 30 years prior to the current presentation. This is consistent with the natural history of the syndrome, in which neurological symptoms related to the size and location of the underlying lesions are the primary presenting symptoms.…”

Section: Characterization Of Wsmmentioning

confidence: 99%

“…The cutaneous symptoms are often subtle and only present in a minority of cases. 1,4 When present, they vary in coloration and size. 1,4 Neurological presentation is variable but related directly to the lesion size and location.…”

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confidence: 99%

“…1,4 Neurological presentation is variable but related directly to the lesion size and location. 4 The most common symptom is visual deterioration, with headache, hemiplegia, and homonymous hemianopsia relatively common as well. 2,3,6,7 Onset generally occurs in adolescence.…”

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confidence: 99%

“…4 As such, the natural history of the syndrome is patient-and lesion-specific and generally unpredictable. 4 Further, in contrast to typical AVMs, those associated with WMS have often been noted to be dynamic and change over the patient's lifetime. [8][9][10][11] This remodeling is likely related to the high-flow nature of the AVMs with hemodynamic changes that can lead to spontaneous thrombosis and decompensation.…”

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confidence: 99%

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Pituitary macroadenoma causing vision loss in Wyburn-Mason syndrome: illustrative case

Hug¹,

Purger²,

Moss

et al. 2022

Journal of Neurosurgery: Case Lessons

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BACKGROUND Wyburn-Mason syndrome (WMS) is a neurocutaneous disorder consisting of vascular malformations of the brain, eye, and skin. These include characteristically high-flow intracranial and intraorbital arteriovenous malformations (AVMs) that present commonly with visual deterioration, headache, and hemiplegia. Complete removal of these lesions is challenging. Most patients are followed closely, and intervention occurs only in the setting of worsening symptoms secondary to AVM growth or hemorrhage. Here the authors present the first known case of a patient with WMS and a pituitary macroadenoma. OBSERVATIONS A 62-year-old man with a 30-year history of WMS with right basal ganglia and orbital AVMs and right eye blindness presented for new-onset left-sided vision loss. A pituitary adenoma was identified compressing the optic chiasm and left optic nerve. Magnetic resonance imaging and digital subtraction angiography studies were obtained for surgical planning, and the patient underwent an endoscopic transnasal transsphenoidal resection, with significant postoperative vision improvement. LESSONS Given the variable presentation and poor characterization of this rare syndrome, patients with WMS presenting with new symptoms must undergo evaluation for growth and hemorrhage of known AVMs, as well as new lesions. Further, in patients undergoing intracranial surgery, extensive preoperative imaging and planning are crucial for safe and successful procedures.

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Section: Characterization Of Wsmmentioning

confidence: 99%

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confidence: 99%

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confidence: 99%

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confidence: 99%

See 2 more Smart Citations

Pituitary macroadenoma causing vision loss in Wyburn-Mason syndrome: illustrative case

Hug¹,

Purger²,

Moss

et al. 2022

Journal of Neurosurgery: Case Lessons

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“…Another explanation for visual loss is glaucoma as a result of elevated vascular pressure, neovascularization resulting from ischemia, which might lead to vitreous hemorrhage [5]. Archer et al, staged the disease into three groups [6][7][8]: Group 1 (AVM cannot be detected clinically). Group 2 (Clinically seen as edema and hemorrhage due to direct AVM, i.e., no capillary network between them).…”

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confidence: 99%

Bilateral Wyburn–Mason Syndrome Presenting with Macular Edema

Abdullah¹

2020

SJM

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The Wyburn-Mason or Bonnet-Dechaume-Blanc syndrome is a sporadic illness which is a type of phakomatosis, usually present as unilateral arteriovenous malformations (AVM), for the first defined by Magnus in 1874 as retinal AVM later in 1932 another description gave by Yates and Payne; as an AVMs of the retina and cerebral vasculature, while in 1937 Bonnet, Dechaume and Blanc defined as AVM involving facial, retinal and brain blood vessels, then in 1943 all literature revised by Wyburn-Mason to put together to his case reports, therefore, the name of Bonnet-Dechaume-Blanc syndrome given in France, but in English articles entitled as Wyburn-Mason syndrome [1]. At that time, due to a deficiency in diagnostic imaging techniques, all the diagnosis were performed by clinical findings, operation, or autopsy [2]. Usually, it is a unilateral disorder comprising of three distinct components: orbit, brain (ipsilateral to the retina) and face, in the face; the sensory region of the trigeminal nerve distribution involved, that takes the shape of naevi which might be wholly formed and illness, is complete, or the naevi might be faint or absent, the latter regarded as an incomplete disease [1, 3] but rarely a bilateral involvement encountered with an asymmetrical grade of malformation [4]. The pathology starts in the early embryonic period, and if vascular dysgenesis encountered can lead to a wide range of neurocutaneous vascular defects in the cerebrum or ocular or both [2]. When the disorder reaches the last stage, the AVM can compress the optic nerve causing impaired perfusion, ischemia eventually optic atrophy [2]. Another explanation for visual loss is glaucoma as a result of elevated vascular pressure, neovascularization resulting from ischemia, which might lead to vitreous hemorrhage [5]. Archer et al., staged the disease into three groups [6][7][8]: Group 1 (AVM cannot be detected clinically). Group 2 (Clinically seen as edema and hemorrhage due to direct AVM, i.e., no capillary network between them). Group 3 (Clinically, it is impossible to distinguish arteries from veins due to severely dilated blood vessels all over retina). We present a 41-year-old male presented with a gradual decrease in his visual acuity in both eyes.

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Wyburn-Mason Syndrome

Cited by 2 publications

References 12 publications

Pituitary macroadenoma causing vision loss in Wyburn-Mason syndrome: illustrative case

Pituitary macroadenoma causing vision loss in Wyburn-Mason syndrome: illustrative case

Bilateral Wyburn–Mason Syndrome Presenting with Macular Edema

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