E-page Original Images: Gaucher’s disease with valvular, myocardial and aortic involvement in a patient with oculomotor apraxia

Gaucher disease (GD) is an autosomal recessive inherited defect of the lysosomal enzyme glucocerebrosidase, which leads to glucocerebroside accumulation in the reticuloendothelial system. We report here a case of a 20-year-old woman who had been diagnosed as a type 3 GD histopathologically after liver biopsy at 10- year of age. On her current physical examination oculomotor apraxia was detected. On transthoracic echocardiography the mitral and aortic valves were abnormally thickened and calcified (Fig. 1, 2).