# Endovascular treatment in Danon disease: a case report

**Authors:** Rayco Jiménez-Bolaños, Francisco Hernández-Fernández, Jorge García-García, Óscar Ayo-Martín, Laura del Rey Megias, Juan David Molina-Nuevo, Tomás Segura

PMC · DOI: 10.1186/s13256-024-04555-7 · 2024-05-12

## TL;DR

A 14-year-old boy with Danon disease had a stroke and was successfully treated with a procedure to remove the blood clot.

## Contribution

This is the first reported case of stroke in Danon disease treated with endovascular intervention.

## Key findings

- A 14-year-old male with Danon disease experienced an acute ischemic stroke.
- Mechanical thrombectomy successfully revascularized the affected area with a good outcome.
- Intraventricular thrombus was confirmed without arrhythmic events.

## Abstract

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.

## Linked entities

- **Diseases:** Danon disease (MONDO:0010281), ischemic stroke (MONDO:1060198)

## Full-text entities

- **Diseases:** myopathy (MESH:D009135), intellectual disability (MESH:D008607), arrhythmic events (OMIM:212500), hypertrophic cardiomyopathy (MESH:D002312), cerebral artery (MESH:D002539), atrial fibrillation (MESH:D001281), intraventricular thrombus (MESH:D013927), occlusion (MESH:D001157), Danon disease (MESH:D052120), Ischemic stroke (MESH:D002544), lysosomal storage disorder (MESH:D016464)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC11088769/full.md

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Source: https://tomesphere.com/paper/PMC11088769