Wyburn-Mason disease: Management of a Spetzler-Martin grade 5 arteriovenous malformation with predominant thalamic involvement
Wyburn-Mason disease (WMD) is a rare congenital phakomatosis known for its complex arteriovenous malformations (AVMs) predominantly affecting the brain and ocular structures. We present the case of a 19-year-old female with an unruptured Spetzler-Martin grade 5 left thalamic AVM, who initially exhib...
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| Language: | English |
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Elsevier
2025-03-01
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| Series: | Radiology Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043324012937 |
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| author | Jovan Dhatt, BS Karis Houser Kathryn A Szymanski, BS Kelly Halderman, BS Michael Kuwabara, MD |
| author_facet | Jovan Dhatt, BS Karis Houser Kathryn A Szymanski, BS Kelly Halderman, BS Michael Kuwabara, MD |
| author_sort | Jovan Dhatt, BS |
| collection | DOAJ |
| description | Wyburn-Mason disease (WMD) is a rare congenital phakomatosis known for its complex arteriovenous malformations (AVMs) predominantly affecting the brain and ocular structures. We present the case of a 19-year-old female with an unruptured Spetzler-Martin grade 5 left thalamic AVM, who initially exhibited progressive visual impairment and migraines. Following diagnosis, she was treated with trametinib, a MEK inhibitor; however, nine months later, she developed acute complications, including left monocular blindness and right hemisensory loss. Imaging revealed narrowing of the left internal carotid artery and ischemia, leading to the discontinuation of trametinib. Her condition stabilized with gabapentin and supportive therapies. This case emphasizes the potential therapeutic role and risks of MEK inhibitors in managing high-grade AVMs in WMD and highlights the need for individualized management and careful monitoring in such cases. |
| format | Article |
| id | doaj-art-fb8e2f4aca98456bb1dc59feacdccd13 |
| institution | OA Journals |
| issn | 1930-0433 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj-art-fb8e2f4aca98456bb1dc59feacdccd132025-08-20T01:49:51ZengElsevierRadiology Case Reports1930-04332025-03-012031323132710.1016/j.radcr.2024.11.023Wyburn-Mason disease: Management of a Spetzler-Martin grade 5 arteriovenous malformation with predominant thalamic involvementJovan Dhatt, BS0Karis Houser1Kathryn A Szymanski, BS2Kelly Halderman, BS3Michael Kuwabara, MD4Midwestern University – Arizona College of Osteopathic Medicine, 19555 59th Ave, Glendale, AZ 85308, USA; Corresponding author.Phoenix Children's Hospital, Department of Radiology, 1919 E Thomas Rd, Phoenix, AZ 85016, USACreighton University, School of Medicine, 3100 N Central Ave, Phoenix, AZ 85012, USACreighton University, School of Medicine, 3100 N Central Ave, Phoenix, AZ 85012, USAPhoenix Children's Hospital, Department of Radiology, 1919 E Thomas Rd, Phoenix, AZ 85016, USAWyburn-Mason disease (WMD) is a rare congenital phakomatosis known for its complex arteriovenous malformations (AVMs) predominantly affecting the brain and ocular structures. We present the case of a 19-year-old female with an unruptured Spetzler-Martin grade 5 left thalamic AVM, who initially exhibited progressive visual impairment and migraines. Following diagnosis, she was treated with trametinib, a MEK inhibitor; however, nine months later, she developed acute complications, including left monocular blindness and right hemisensory loss. Imaging revealed narrowing of the left internal carotid artery and ischemia, leading to the discontinuation of trametinib. Her condition stabilized with gabapentin and supportive therapies. This case emphasizes the potential therapeutic role and risks of MEK inhibitors in managing high-grade AVMs in WMD and highlights the need for individualized management and careful monitoring in such cases.http://www.sciencedirect.com/science/article/pii/S1930043324012937Wyburn-Mason diseaseArteriovenous malformationTrametinibThalamusSpetzler-Martin Grade 5Ischemia |
| spellingShingle | Jovan Dhatt, BS Karis Houser Kathryn A Szymanski, BS Kelly Halderman, BS Michael Kuwabara, MD Wyburn-Mason disease: Management of a Spetzler-Martin grade 5 arteriovenous malformation with predominant thalamic involvement Radiology Case Reports Wyburn-Mason disease Arteriovenous malformation Trametinib Thalamus Spetzler-Martin Grade 5 Ischemia |
| title | Wyburn-Mason disease: Management of a Spetzler-Martin grade 5 arteriovenous malformation with predominant thalamic involvement |
| title_full | Wyburn-Mason disease: Management of a Spetzler-Martin grade 5 arteriovenous malformation with predominant thalamic involvement |
| title_fullStr | Wyburn-Mason disease: Management of a Spetzler-Martin grade 5 arteriovenous malformation with predominant thalamic involvement |
| title_full_unstemmed | Wyburn-Mason disease: Management of a Spetzler-Martin grade 5 arteriovenous malformation with predominant thalamic involvement |
| title_short | Wyburn-Mason disease: Management of a Spetzler-Martin grade 5 arteriovenous malformation with predominant thalamic involvement |
| title_sort | wyburn mason disease management of a spetzler martin grade 5 arteriovenous malformation with predominant thalamic involvement |
| topic | Wyburn-Mason disease Arteriovenous malformation Trametinib Thalamus Spetzler-Martin Grade 5 Ischemia |
| url | http://www.sciencedirect.com/science/article/pii/S1930043324012937 |
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