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.