To describe the case of a patient who presents retinal racemose hemangioma wyburn mason syndrome and his 10 years followup. Wyburnmason syndrome is a rare syndrome associated with multiple arteriovenous malformations avms involving the orbit, brain and face. The median stability of the primary trabeculectomy 7cases was 22. Junctional visual field loss in a case of wyburnmason. Wyburnmason syndrome wms, also known as bonnetdechaumeblanc syndrome or retinoencephalofacial angiomatosis, is a rare condition. Wyburn mason syndrome wms, also known as the bonnetdechaumeblanc syndrome, is a rare phakomatosis characterized by congenital ipsilateral retinal, brain usually midbrain, and, less frequently, facial angiomas 1. Androgen insensitivity syndrome ieuan a hughes, john d davies, trevor i bunch, vickie pasterski, kiki mastroyannopoulou, jane macdougall androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Wyburn mason syndrome, also known as bonnetdechaumeblanc syndrome, is a rare phacomatosis characterized by the development of arteriovenous malformations avms in the central nervous system, skin, and retina. Tenner, md, new york two patients with unilateral optic atro phy had both suprasellar and intraorbital arteriovenous malformations.
Bonnetdechaumeblanc syndrome, also known as wyburnmason syndrome, is a rare. The clinic files with diagnosis of glaucoma associated to sturgeweber syndrome with a follow up greater to 1. Links to pubmed are also available for selected references. Grange syndrome is a rare condition that primarily affects the blood vessels. Ten years after the disease diagnosis, the ophthalmologic exam had no changes, as well as the campimetry and the retinography. Wyburnmason syndrome or bonnetdechaumeblanc syndrome is characterized by the association of. When the syndrome affects the brain, people can experience severe. The vascular abnormalities and tumours of the spinal cord and its membranes.
This condition is classified as one of the phakomatoses, a group of disorders featuring. An integrated software solution for multimodal mapping of morphological and functional ocular data article in conference proceedings. The first records of this syndrome date from 1887, described by dreschfeld, and this was followed by many other reports. Wyburnmason syndrome astakhov ophthalmology journal. Wyburnmason syndrome wyburnmason syndrome is a rare nonhereditary congenital disease characterized by abnormal arteriovenous anastomoses involving both the retina and midbrain. Annual international conference of the ieee engineering. Conduction of pain o superficial pain a fibers, myelinated, receptors within the skin o deep pain cfibers, unmyelinated, pain receptors in deep and superficial. Wyburnmason syndrome nord national organization for rare. Um caso e apresentado, sendo comentadas suas particularidades pelas.
It is characterized by narrowing stenosis or blockage occlusion of arteries that supply blood to various organs and tissues, including the kidneys, brain, and heart. Browse az genetic and rare diseases information center. Wyburnmason syndrome, also known as racemose angioma, is a rare nonhereditary. Isaacs syndrome synonyms, isaacs syndrome pronunciation, isaacs syndrome translation, english dictionary definition of isaacs syndrome. However, the clinical characteristics of this syndrome were only fully described in 1948, from a series of 6. Wyburnmason syndrome is a rare disease in which vascular dysgenesis affects the retina and brain. It is currently classified as a craniofacial arteriovenous metameric syndrome cams 34 pathology. Windburn definition of windburn by medical dictionary. Wyburnmason syndrome, also known as bonnetdechaumeblanc syndrome, is a rare phacomatosis characterized by the development of arteriovenous malformations avms in the central nervous system, skin, and retina. Pdf the diagnosis of bonnetdechaumeblanc or wyburnmason syndrome encompasses a spectrum of phenotypic expression. However, the clinical characteristics of this syndrome were only fullydescribedin1948,fromaseriesof6casesreported by parsonage and turner. The first had associated vascular lesions of the ipsilateral mandible and maxilla, while the second had an ipsilateral facial vascular lesion. It can cause visual symptoms depending on its localization and extension.
Arteriovenous aneurysm of midbrain and retina, facial naevi and mental changes. The vascular malformations are not hereditary and are generally unilateral highflow systems. The vascular abnormalities and tumours of the spinal cord and its membrane. Sin embargo, sullivan y colaboradores 1 encontraron. 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. What links here related changes upload file special pages permanent link page.
Jun 19, 2019 wyburn mason syndrome wms, also known as bonnetdechaumeblanc syndrome or retinoencephalofacial angiomatosis, is a rare condition. Retinal malformations are the most common 81% of cases. Wyburn mason syndrome, also known as bonnetdechaumeblanc syndrome, is a rare disorder with 3 essential elements. Wyburnmason syndrome genetic and rare diseases information. The causation of rheumatoid disease and many human cancers by roger wyburn mason, m. A case of rhegmatogenous retinal detachment in a patient with wyburn mason syndrome is described. In my case, it involves the optic disc, retina and the midbrain, which is important to the movements of the eye and visual processing. Bonnetdechaumeblanc syndrome, also known as wyburn mason syndrome, is a rare congenital disorder characterized by arteriovenous malformations of the brain, retina or facial nevi. These malformed blood vessels are called arteriovenous malformations avm.
Wyburnmason3 1941, burnard4 1942 and spillane5 1943. Search genetic and rare diseases information center gard. It is considered one of the nonhereditary congenital phakomatoses and is characterized by arteriovenous malformations avms that affect the retina, visual pathways, midbrain, and facial structures. Isaacs syndrome definition of isaacs syndrome by the free. Wyburn mason s syndrome is a condition in which blood vessels do not form. For language access assistance, contact the ncats public information officer. Wyburn mason syndrome is a rare disease associated with multiple arteriovenous malformations of the brain, orbit, and face resulting from an insult occurring during embryonic development.
Feinberg1 1897, bramwell and struthers2 1903, wyburn mason3 1941, burnard4 1942 and spillane5 1943. Trigeminal neuralgia and arteriovenous aneurysm of the. It is a congenital, nonhereditary condition, without. Arteriovenous aneurysm of midbrain and retina, facial nevi and mental changes. Arteriovenous aneurysm of midbrain and retina facial naevi and mental changes. The first had associated vascular lesions of the ipsilat eral mandible and maxilla, while the sec ond had an ipsilateral facial. A case report of wyburnmason syndrome in a 7 year old public wyburn mason syndrome is characterized as a neurooculocutaneous syndrome in which the development of arteriovenous malformations avm are identified not only in the retina, but in the brain as well. It is a congenital, nonhereditary condition, without gender or race predilection.
It is believed that the development of vascular disorders initiates at the seventh week of gestation, leading to avms in the eyeball and midbrain 27. Wyburn mason syndrome is an extremely rare congenital disorder with approximately 150 reported cases. Pdf wyburnmason or bonnetdechaumeblanc as cerebrofacial. Blood diseases genetic and rare diseases information. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree.
Search genetic and rare diseases information center. Wyburn mason3 1941, burnard4 1942 and spillane5 1943. If you have problems viewing pdf files, download the latest version of adobe reader. Wyburn mason syndrome is a nonhereditary condition that affects the vascular system, causing arteriovenous malformation avm of the eye and brain. Wyburn mason s syndrome is present from birth congenital and the cause is unknown.
Wyburnmason syndrome is a neurocutaneous disorder which typically presents with unilateral vascular abnormalities involving the facial structures, orbits and. We report a case of this rare syndrome with subarachnoid. Get a printable copy pdf file of the complete article 2. Wyburnmason syndrome is an extremely rare nonhereditary disorder that is present at birth congenital. Vitreous and intraretinal hemorrhage and neovascular glaucoma have been previously described. Full text full text is available as a scanned copy of the original print version. Pdf rhegmatogenous retinal detachment in wyburnmason. The syndrome has a number of possible symptoms and can, more rarely, affect the skin, bones, kidneys, muscles, and gastrointestinal tract. Colitis ulcerosa complicated by malignant lymphoma. Cervical epidural arteriovenous malformation occurring. An avm is a tangle of abnormal and poorly formed blood vessels. Similar arteriovenous malformations can also occur in the orbit, and less commonly in the face, skin, maxilla, or mandible.
A 27 yearold woman previously diagnosed with wyburn mason syndrome, sought attendance with sudden low vision in right eye 3 months before. A statistical study and historical retrospect of 200 recorded cases, with autopsy, of stenosis or obliteration of the descending arch in subjects above the age of two years. Sindromes raras editado por joziane albina brunelli 04122012 2. Spinal cord compression by an intramedullary aneurysm in. Wyburn mason syndrome report of two cases without retinal involvement dennis g. An integrated software solution for multimodal mapping of. 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.
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