CASE REPORT Gaucher cells finding in bone marrow aspiration

with normal β-glucosidase activity in Gaucher disease

1 2 1
Winra Pratita , Mars N. Abdullah , Damayanti R. Sjarif
1
Department of Child Health, Faculty of Medicine/Cipto Mangunkusomo Hospital, University of Indonesia, Jakarta, Indonesia
2
Department of Child Health, Faculty of Medicine/Zainal Abidin Hospital, University of Syahkuala, Banda Aceh, Indonesia

Objectives
Gaucher disease is a lysosomal storage disease caused by a To present a case
Background

mutation in GBA gene, with greatly reduced activity of β- with discrepancy in

glucosidase, resulting in the accumulation of glucocerebroside in bone marrow
tissues and organs causing the characteristic features of examination and
Gaucher disease. The commonest clinical manifestations of activity enzyme
Gaucher disease are thrombocytopenia, hepatosplenomegaly, analysis in
anemia and bone pain. Diagnosis of Gaucher disease is made diagnosis of
on clinical history, physical examination, bone marrow aspiration, Gaucher disease.
laboratory test and is confirmed by activity enzyme analysis and
genetic testing.

An 18 month-old girl, born to non consanguineous marriage, the fifth child of five siblings. The fourth
child of the family passed away with anemia and hepatosplenomegaly at 3 years-old. At 1 year-old,
she was admitted to the hospital with Dengue fever, anemia and thrombocytopenia with mild
hepatomegaly was found. Six months later, patient experienced epistaxis and her clinical findings
revealed abdominal enlargement, her
Case

laboratory findings revealed anemia and Splenomegaly

thrombocytopenia. In this patient,
Thalassemia and leukemia were Splenectomy? Non portal hypertensive
splenomegaly
No Ancillary information
to support a
excluded. The parents took the child to a suspicion of
Gaucher disease:
hospital in Penang, where they suspected PERFORM Platelets <150k +/- bone pain Platelets
History of
Gall stones
ENZYME
Gaucher disease. She came back to ASSAY
+/- MGUS/polygammopathy
in patient <30 yrs
<150k +
anemia
Abdominal
discomfort
FIRST
Zainal Abidin hospital and was then +/or bone
pain
Low cholesterol
Hyperferritinemia
reffered to Cipto Mangunkusumo hospital. Exclude malignancies +/or MGUS Splenic nodules
Examnine the biopsy for Pregnancy

ow a sp iration From anthropometric Gaucher cells associated

a r r thrombocytopenia
n e m assessment, weight for Post partum
bo No Gaucher No Gaucher hemorrhage
n age was Bone pain
”i

cells malignancy cells

ce

Gammopathies
underweight, length
ran
ea

for age was

app

Leucocyte acid β-glucosidase assay

nkled paper

stunted, and Figure 2. Diagnostic algorithm for Gaucher disease from Mistry et al (Am J Hematol 2011)
weight for length
was normal. We
“w ri

found isolated hepatomegaly with no splenomegaly. There has been another

e ll s
c

Gaucher disease case that was reported without splenomegaly in Sri Lanka.
h er
c

From laboratory examination, Haemoglobin was 8,8g/dL, white blood cells

au
.G

3 3
was 7770/mm , and platelets count was 61000/mm . We performed bone
1
re
i g u
F
marrow examination and Gaucher cells was found. We then sent the dried blood
spot sample abroad to perform β-glucosidase enzyme activity examination to confirm
Gaucher disease. However, the enzyme analysis was normal. Currently we are planning to perform
genetic testing due to doubtful.

Conclusion
Gaucher disease should be considered in any child or adult with an unexplained hepatosplenomegaly
and cytopenia. As far as we know, this is the first case with clinical manifestation according to Gaucher
disease, Gaucher cells was found in the bone marrow, but β-glucosidase activity was normal. In this
case, genetic testing is needed to confirm the diagnosis.

Key words: bone marrow, β-glucosidase, discrepancy, Gaucher cells, Gaucher disease