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Endovascular treatment in Danon disease: a case report
Rayco Jiménez-Bolaños1, Francisco Hernández-Fernández2, Jorge García-García3
1Department of Neurology, Complejo Hospitalario Universitario Insular-Materno Infantil de Canarias, Las Palmas, Spain.
Insights
This study details the first case of ischemic stroke in a patient with Danon disease treated successfully with mechanical thrombectomy. The successful endovascular treatment highlights a new therapeutic option for this rare complication.
Area of Science:
- Genetics and rare diseases
- Neurology
- Cardiology
Background:
- Danon disease is a rare X-linked lysosomal storage disorder.
- Classic symptoms include hypertrophic cardiomyopathy, myopathy, and intellectual disability.
- Ischemic stroke is an uncommon but serious complication.
Background:
Danon disease is a lysosomal storage disorder with X-linked inheritance. The classic triad is severe hypertrophic cardiomyopathy, myopathy, and intellectual disability, with different phenotypes between both genders. Ischemic stroke is an uncommon complication, mostly cardioembolic, related to intraventricular thrombus or atrial fibrillation, among others.
Case Report:
We report the case of a 14-year-old Caucasian male patient with Danon disease who suffered from an acute ischemic stroke due to occlusion in the M1 segment of the middle cerebral artery. He underwent mechanical thrombectomy, resulting in successful revascularization with satisfactory clinical outcome. We objectified the intraventricular thrombus in the absence of arrhythmic events.
Conclusion:
To our knowledge, we report the first case of ischemic stroke related to Danon disease treated with endovascular treatment.
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