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Wyburn Mason's Syndrome

Wyburn-Mason Syndrome


Presentation

  • At the age of 5 years, he presented with sudden onset of headache, followed by a loss of consciousness, vomiting, and, subsequently, visual disturbances.[ncbi.nlm.nih.gov]
  • Methods : An 11-year-old boy was referred for evaluation of strabismus present since birth.[pubfacts.com]
  • In the present case both internal and carotid arteries were involved in this vascular dysplasia.[ijo.in]
  • (Etiology) The exact cause of development of Wyburn-Mason Syndrome is not known at the present time.[dovemed.com]
Euthyroid
  • Her thyroid function tests were normal, and she has remained clinically euthyroid. Fig 1. DSA of the left internal carotid artery, lateral view.[ajnr.org]
Goiter
  • Indications for treatment of a thyroid AVM include disturbances of thyroid function or the development of a painful enlarging goiter indicating intrathyroid hemorrhage, resulting in a painful enlarging goiter.[ajnr.org]
Skin Discoloration
  • A person showing signs of the syndrome may display faint skin discoloration, nevi, or angiomas of the skin. [3] Some patients with this disorder also present with high-flow AVMs in the maxillofacial or mandibular (jaw) regions. [8] Another facial indicator[en.wikipedia.org]
Cutaneous Manifestation
  • Unlike other phakomatoses that involve the eyes, Wyburn-Mason does not commonly cause cutaneous manifestations. [1] [2] [3] [4] Etiology Wyburn-Mason syndrome is thought to be a congenital, nonhereditary, sporadic disorder.[ncbi.nlm.nih.gov]
  • In contrast to other phakomatoses, Wyburn-Mason syndrome does not commonly cause cutaneous manifestations.[emedicine.medscape.com]
Hemianopsia
  • At the age of 7 years, he developed acute hemianopsia and right hemiplegia. Angiography revealed large bilateral arteriovenous malformations involving the midbrain thalamic area and the right optic nerve.[ncbi.nlm.nih.gov]
  • Subject Blindness; Fluorescein Angiography; Hemianopsia; Humans; Intracranial Arteriovenous Malformations; Male; Middle Aged; optic Chiasm; Optic Disk; Retinal Vessels; Visual Fields Abstract We report a 56-year-old female with a 50-year history of a[collections.lib.utah.edu]
Hemianopsia
  • At the age of 7 years, he developed acute hemianopsia and right hemiplegia. Angiography revealed large bilateral arteriovenous malformations involving the midbrain thalamic area and the right optic nerve.[ncbi.nlm.nih.gov]
  • Subject Blindness; Fluorescein Angiography; Hemianopsia; Humans; Intracranial Arteriovenous Malformations; Male; Middle Aged; optic Chiasm; Optic Disk; Retinal Vessels; Visual Fields Abstract We report a 56-year-old female with a 50-year history of a[collections.lib.utah.edu]
Retinal Vascular Anomaly
  • A similar eye examination performed 1 year ago had revealed congenital retinal vascular anomalies, but no further investigation was arranged.[neurology.org]
Hearing Impairment
  • […] symptoms in 30-79% of the cases: Cerebral palsy Facial asymmetry Global developmental delay Headache Hemiparesis Visual loss Occasionally present symptoms in 5-29% of the cases: Abnormality of eye movement Cerebral hemorrhage Epistaxis Gingival bleeding Hearing[dovemed.com]
Epistaxis
  • The first patient had recurrent epistaxis during early childhood. At the age of 7 years, he developed acute hemianopsia and right hemiplegia.[ncbi.nlm.nih.gov]
  • […] abnormality Frequently present symptoms in 30-79% of the cases: Cerebral palsy Facial asymmetry Global developmental delay Headache Hemiparesis Visual loss Occasionally present symptoms in 5-29% of the cases: Abnormality of eye movement Cerebral hemorrhage Epistaxis[dovemed.com]
  • Extracranial AVMs may manifest as potentially life-threatening oral hemorrhages or epistaxis. Similarly, neuro-ophthalmic signs symptoms due to retinal AVM are related to AVM size, extent, and location.[emedicine.medscape.com]
  • (Chaudhuri & Kathikeyan, 2012) Vascular malformations in the area of the maxilla, mandible, nasopharynx, buccal mucosa or palate can cause epistaxis and hemorrhage. (Brown, 1999, Wessing, 2007).[eye-pix.com]
Cesarean Section
Headache
  • At the age of 5 years, he presented with sudden onset of headache, followed by a loss of consciousness, vomiting, and, subsequently, visual disturbances.[ncbi.nlm.nih.gov]
  • Case 3: A 9-year-old boy suffered from headache, anorexia and lethalgia. A huge AVM was demonstrated in the chiasmatic region, extending to the bilateral hypothalamus, the basal ganglia, and the right orbit.[jstage.jst.go.jp]
  • Affected individuals may have no symptoms or may experience headaches, problems with vision, seizures, or partial paralysis ( hemiparesis ).[rarediseases.info.nih.gov]
  • Affected individuals may have no symptoms or may experience headaches, problems with vision, seizures, or partial paralysis (hemiparesis). Treatment usually consists of periodic visits to the doctor to see if the AVMs are changing over time.[malacards.org]
Intracranial Hemorrhage
  • Her past history was significant for a left thalamic intracranial hemorrhage at age 21 years requiring a prolonged intensive care admission. She had no other neurologic symptoms.[ajnr.org]
  • hemorrhage and lead to decreased visual acuity, proptosis, pupillary defects, optic atrophy, congestion of bulbar conjunctiva, and visual field defects. [4] [5] Retinal lesions can be unilateral and tortuous, and symptoms begin to appear in the second[en.wikipedia.org]

Workup

  • Her topic of discussion was “The Uveitis Workup: What Not to Miss!” Posted on: Mar 26 2019 By: Lisa Mitchell-Galloy Dr. Sohail Hasan, current President of ISEPS, introduced and led many talks at the recent Annual ISEPS/COS meeting. Dr.[illinoisretina.com]

Treatment

  • What Are Treatments For Wyburn–Mason Syndrome? There is no definitive treatment to cure Wyburn-Mason Syndrome and treatment is aimed at controlling the symptoms and preventing any complications that may arise due to Arteriovenous Malformations.[epainassist.com]
  • He developed a central retinal vein occlusion complicated by macular edema and received treatment with intravitreal bevacizumab, which led to resolution of the edema.[scholars.northwestern.edu]
  • Treatment [ edit ] The treatment for Bonnet–Dechaume–Blanc syndrome is controversial due to a lack of consensus on the different therapeutic procedures for treating arteriovenous malformations. [9] The first successful treatment was performed by Morgan[en.wikipedia.org]

Prognosis

  • (Outcomes/Resolutions) The prognosis of Wyburn-Mason Syndrome is dependent upon the severity of the signs and symptoms and their age of onset The prognosis is guarded, if neurological signs and symptoms are manifested at an early age Additional and Relevant[dovemed.com]
  • Prognosis Prognosis depends on the extent and location of the lesions. Lesions may remain static, enlarge, or spontaneously regress. [3, 4] Bonnet P, Dechaume J, Blanc E. L'aneurysme cirsoide de la retine (aneurysme vasemeaux).[emedicine.medscape.com]
  • The long term prognosis is controversial. Some authors report ocular lesions stability and others report progressive visual loss. Keywords : Angiomatosis; Retina [abnormalities]; Arteriovenous malformations [diagnosis]; Syndrome.[scielo.br]
  • Prognosis is best when lesions are less than 3 cm in length. Most complications occur when the lesions are greater than 6 cm in size. [2] Surgical intervention for intracranial lesions has been done successfully.[en.wikipedia.org]

Etiology

  • The first chapter stresses the etiology and pathophysiology of childhood stroke as the basis for evaluations and treatment.[books.google.com]
  • Wyburn-Mason syndrome is caused by an anomaly in organogenesis, however the etiology and risk factors are unknown.[atlasrleye.com]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Unlike other phakomatoses that involve the eyes, Wyburn-Mason does not commonly cause cutaneous manifestations. [1] [2] [3] [4] Etiology Wyburn-Mason syndrome is thought to be a congenital, nonhereditary, sporadic disorder.[ncbi.nlm.nih.gov]
  • (Etiology) The exact cause of development of Wyburn-Mason Syndrome is not known at the present time.[dovemed.com]

Epidemiology

  • Epidemiology [ edit ] The syndrome was first described in 1943 and believed to be associated with racemose hemangiomatosis of the retina and arteriovenous malformations of the brain.[en.wikipedia.org]
Sex distribution
Age distribution

Pathophysiology

  • The first chapter stresses the etiology and pathophysiology of childhood stroke as the basis for evaluations and treatment.[books.google.com]
  • Pathophysiology Vision loss from Wyburn-Mason syndrome occurs secondary to the location of the arteriovenous malformations in the retina or the orbit.[ncbi.nlm.nih.gov]
  • Pathophysiology Although the exact etiology and risk factors associated with Wyburn-Mason syndrome are unknown, recent studies have suggested a role for genetic factors in the pathogenesis of retinal AVMs.[emedicine.medscape.com]

Prevention

  • Therefore, no preventive methods or guidelines are available Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders Regular medical screening at periodic intervals[dovemed.com]
  • There is no definitive treatment to cure Wyburn-Mason Syndrome and treatment is aimed at controlling the symptoms and preventing any complications that may arise due to Arteriovenous Malformations.[epainassist.com]
  • […] embolization, radiation therapy, and continued observation. [5] When pursuing treatment, it is important to consider the size of the malformations, their locations, and neurological involvement. [7] Because it is a congenital disorder, there are no preventative[en.wikipedia.org]

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