Endovascular treatment in Danon disease: a case report

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, relat...

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Published inJournal of medical case reports Vol. 18; no. 1; pp. 244 - 4
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 Journal Article
LanguageEnglish
Published London BioMed Central 12.05.2024
BioMed Central Ltd
BMC
Subjects
Adolescent
Apixaban
Atrial fibrillation
Blood clot
Blood coagulation factors
Cardiomyopathy
Case Report
Danon
Endovascular Procedures
Family Medicine
General Practice
Glycogen Storage Disease Type IIb - complications
Humans
Infarction, Middle Cerebral Artery - diagnostic imaging
Infarction, Middle Cerebral Artery - surgery
Internal Medicine
Ischemia
Ischemic Stroke - diagnostic imaging
Ischemic Stroke - surgery
Lysosomal
Male
Medicine
Medicine & Public Health
Primary Care Medicine
Public Health
Stroke
Surgical Oncology
Thrombectomy
Thrombosis
Treatment Outcome
Stroke
Case report
Danon
Cardiomyopathy
Lysosomal
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ISSN1752-1947
1752-1947
DOI10.1186/s13256-024-04555-7

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Summary: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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ISSN:1752-1947
1752-1947
DOI:10.1186/s13256-024-04555-7