Work

Wyburn-Mason disease: Management of a Spetzler-Martin grade 5 arteriovenous malformation with predominant thalamic involvement

Year: 2024

Type: article

Abstract: 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.

Source: Radiology Case Reports

DOI: 10.1016/j.radcr.2024.11.023

Authors: Jovan Dhatt, Karis Houser, Kathryn A Szymanski, Kelly Halderman, Michael Kuwabara

Institutions: Midwestern University, Phoenix Children's Hospital, Creighton University

Language: English

Topic: Vascular Malformations Diagnosis and Treatment

Subfield: Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $550