ABSTRACT
CLINICAL INTRODUCTION: A previously healthy 12-year-old boy presented with chest pain and dyspnoea. ECG (figure 1), echocardiogram (figure 2) and myocardial MRI (figure 3) were performed.Electromyography revealed mild proximal weakness. Blood tests showed creatine kinase 997â UI/L, aspartate transaminase 398â UI/L, alanine transaminase 293â UI/L and lactate deshidrogenase 1730â UI/L. Ophthalmology test showed diffuse loss of pigment in the retinal pigment epithelium. Myocardial biopsy was performed (figure 4). A cardiomyopathy was suspected. LAMP2 gene was sequenced, and a stop mutation was identified. QUESTION: What is the most likely diagnosis suggested based on the patient's tests and history? Danon's disease.Fabry's disease.Hypertrophic cardiomyopathy.Noonan's syndrome.Pompe's disease.