Endovascular treatment in Danon disease: a case report

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 intra...

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Published in:Journal of medical case reports 2024-05, Vol.18 (1), p.244-244, Article 244
Main Authors: Jiménez-Bolaños, Rayco, Hernández-Fernández, Francisco, García-García, Jorge, Ayo-Martín, Óscar, Del Rey Megias, Laura, Molina-Nuevo, Juan David, Segura, Tomás
Format: Article
Language:English
Subjects:
Adolescent
Apixaban
Atrial fibrillation
Blood clot
Blood coagulation factors
Cardiomyopathy
Case Report
Danon
Endovascular Procedures
Glycogen Storage Disease Type IIb - complications
Humans
Infarction, Middle Cerebral Artery - diagnostic imaging
Infarction, Middle Cerebral Artery - surgery
Ischemia
Ischemic Stroke - diagnostic imaging
Ischemic Stroke - surgery
Lysosomal
Male
Stroke
Thrombectomy
Thrombosis
Treatment Outcome
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container_end_page 244
container_issue 1
container_start_page 244
container_title Journal of medical case reports
container_volume 18
creator Jiménez-Bolaños, Rayco
Hernández-Fernández, Francisco
García-García, Jorge
Ayo-Martín, Óscar
Del Rey Megias, Laura
Molina-Nuevo, Juan David
Segura, Tomás
description 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. 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. To our knowledge, we report the first case of ischemic stroke related to Danon disease treated with endovascular treatment.
doi_str_mv 10.1186/s13256-024-04555-7
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subjects Adolescent
Apixaban
Atrial fibrillation
Blood clot
Blood coagulation factors
Cardiomyopathy
Case Report
Danon
Endovascular Procedures
Glycogen Storage Disease Type IIb - complications
Humans
Infarction, Middle Cerebral Artery - diagnostic imaging
Infarction, Middle Cerebral Artery - surgery
Ischemia
Ischemic Stroke - diagnostic imaging
Ischemic Stroke - surgery
Lysosomal
Male
Stroke
Thrombectomy
Thrombosis
Treatment Outcome
title Endovascular treatment in Danon disease: a case report
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