Charcot–Marie–Tooth features and maculopathy in a patient with Danon disease

Abstract

Danon disease is a rare X-linked disorder caused by a primary deficiency of lysosome-associated membrane protein-2 (LAMP-2).1,2⇓ The pathologic hallmark of the disease is intracytoplasmic vacuoles containing autophagic material and glycogen in skeletal muscle fibers with complete absence of LAMP-2 staining on immunohistochemistry. The characteristic clinical features in male patients include cardiomyopathy in all cases, skeletal myopathy (85%), and mental retardation (70%). Myopathy is usually mild, affecting proximal limb and neck muscles, with moderate muscle atrophy in rare cases.3 We report the case of a patient with mild neuromuscular manifestations mimicking Charcot–Marie–Tooth disease and associated with retinal abnormalities leading to severe visual impairment. A 24-year-old man was followed for a hypertrophic cardiomyopathy diagnosed in childhood during a systematic examination performed because of four cardiac deaths in the family (three uncles died at ages 7, 29, and 34 years, and his maternal grandmother died at age 32 years). Atrial tachycardia and second-degree atrioventricular block subsequently occurred. …