4. DISCUSSION
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder due to pathogenic variants in gene GBA1 , resulting in a deficiency of the enzyme glucocerebrosidase. Deficiency of glucocerebrosidase leads to accumulation of glucocerebrosides and other glycolipids within the lysosome of macrophages, which are called Gaucher cells. The disease mainly affects the liver, spleen and bone marrow. GD is a universal disease, with a worldwide prevalence of around 1/75,000 new-borns, but it’s much more frequent in populations such as Ashkenazi Jews (prevalence between 1/400 −½/500)(3). The frequency of the neuronopathic form is estimated to be 1 per 40,000 live births. It occurs much more frequently in the Ashkenazi population, with an incidence being 1 per 1,000 live births, where N370S (57–70%) and 84GG (10%) are the most frequent mutations(5). Based on neurological involvement, it has been classified into 3 types, type 1 (GD1, non-neuropathic), type 2 (GD2, acute neuropathic) type 3 (GD2, chronic neuropathic).
Clinical presentation of GD is highly variable depending upon the type and age of the patients. However the major clinical presentations in all types of gaucher disease are splenomegaly, hepatomegaly, thrombocytopenia, anemia, bleeding, osteopenia, growth retardation, bone pain and fracture(6). The most common signs and symptoms in children with GD1 are splenomegaly, hepatomegaly, thrombocytopenia, epistaxis, bruising, anemia, delayed growth, delayed puberty, and acute and chronic pain with bone disorders(7–9). Children with neuronopathic GD (GD2) generally present perinatally or within the first year of life and are characterized by rapid neurological decline and die in infancy(9–11). Patients with GD3 often present during the first year of life with massive organomegaly, anemia or thrombocytopenia, and a horizontal supranuclear gaze palsy(10). The most common manifestation is horizontal supranuclear gaze palsy, and in some individuals, this is the only neurological symptom(4,12,13). In our case this child was initially presented with features of anemia, hepatosplenomegaly and later presented with horizontal saccadic initiation failure. Since the presentation was vague and initial evaluation was normal, only his eye moment problem got our attention.
In a rare subset of patients with GD3, severe cardiac valve involvement may develop. The diagnosis of GD3 is frequently made by a neuro-ophthalmologist when abnormal eye movements are noted(10). Careful ocular examination and investigation are crucial to find any ocular abnormalities. It involves clinical ocular assessment, saccadometry by video-oculography and optical coherence tomography(OCT)(14). In our case due to limited resources we were unable to perform the above mentioned investigations.
There are various treatment goals for pediatric patients with GD to manage clinical manifestations have been proposed in literature, such as anemia, thrombocytopenia, hepatosplenomegaly, growth retardation and bone disease(9). Prevention, early detection and management of complications is the primary goal of treatment to make their life better. The only approved curative option that is recommended for all symptomatic pediatric populations is enzyme replacement therapy(ERT)(9). However due to the financial problem of the child we were unable to treat his condition with ERT. However, we managed his anemia and counselling is done regarding possible complications and management.