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.