Gaucher Disease Type IIIC, with Oculomotor Apraxia

Abstract

Four siblings with consanguineous parents, presenting with oculomotor apraxia in early childhood, were diagnosed with Gaucher disease (GD) at 10 years of age, at King Faisal Specialist Hospital, Riyadh, Saudi Arabia.

Keywords

• gaucher disease
• oculomotor apraxia
• cardiovascular calcification