Key Clinical Message
Gaucher disease is a rare autosomal recessive disorder due to deficiency of β-glucocerebrosidase enzyme with various clinical manifestations. It has three types of which, type 3 GD(GD3) with slower neurological manifestation. The most common neurological features of GD3 are saccadic initiation failure and saccadic slowing of eyes. We reported the case of a 2 years old male who was initially treated as iron deficiency anemia later developed saccadic slowness of gaze. This highlights the importance of history and physical examination to find serious underlying conditions in children with eye movement problems. Though treatment is expensive, prevention, recognition and management of complications of underlying gaucher disease is crucial.
Keywords:- Saccadic eye movement, Gaucher Disease, Inborn error of metabolism, lysosomal storage disease,