1. INTRODUCTION
GD is a rare autosomal recessive disorder characterized by the defective function of the catabolic enzyme β-glucocerebrosidase (GBA), leading to an accumulation of its substrate, glucocerebroside, primarily in the liver, spleen, and bone marrow(1,2). A total or partial deficiency of this enzyme results in severe lysosomal dysfunction in addition to the accumulation of glucosylceramide (GC) in macrophages of the reticuloendothelial system(3). It is a most common lysosomal storage disease with highly variable clinical manifestations. It has 3 types, type 1(GD1) is the most common non neuropathic form that involves liver spleen, bone marrow or may also involve lungs and kidneys(1). Type 2(GD2) is an acute neuropathic form that manifests in early childhood with rapid neurological deterioration and children hardly survive beyond age 2. Type 3(GD3) is a subacute neuropathic form with slower neurological development(1). In type 3 GD, the most common neurological features are horizontal saccadic initiation failure (SIF) and saccadic slowing, however they are very hard to detect clinically due to uncooperativeness of children(4). Here we are going to present the case of a 2 year male child with saccadic eye movement finally being diagnosed as type 3 gaucher’s disease.