Gaucher's Disease - A case report

Abstract

Gaucher's Disease (GD) is an autosomal recessive systemic lysosomal storage disorder which is characterized by glucocerebroside deposition in cells of the macrophage-monocyte system as a result of a deficiency in lysosomal P-glycosidase (glucocerebrosidase). GD is a rare genetic disorder. It is the most common amongst the lysosomal storage disorders. GD has been categorised into three types based on the presence of central nervous involvement1. Type 1 is a non-neuronopathic form that presents in childhood or early adulthood. Type 2 is acute neuronopathic form that presents in childhood. It progresses rapidly and is fatal. Type 3 is chronic non-neuronopathic form that presents in childhood but is slowly progressive. Here we describe a case of a three and a half year old male child in whom a diagnosis of Gaucher's disease was made based on bone marrow biopsy and later confirmed by glucocerebrosidase levels estimation.

Full text

MVP Journal of Medical Sciences, Vol 2(2), 130-131, July-December 2015 DOI:
*Author for Correspondence
1. Introduction
GD, a lysosomal storage disorder is caused by a defect
in the housekeeping gene lysosomal glucocerebrosidase
which is present on the rst chromosome (1q22)3. It was
rst described by a French physician, Philippe Charles
Ernest Gaucher in a 32-year-old woman whose liver and
spleen were enlarged. e incidence of GD worldwide is
approximately 1/57,000 to 1/75,000 births. In Ashkenazi
Jews, the incidence is 1/800 births. In India, GD is believed
to be extremely rare and has been reported only in a few
case reports4. Out of the three types of GD, Type 1 is the
most common type, which represents 95% of all cases. It is
generally characterised by hepatosplenomegaly, bone and
lung disease, hematologic abnormalities such as anemia,
thrombocytopenia and coagulation abnormalities.
Central nervous system is not involved. It occurs most
commonly among Ashkenazi Jews. Type 2 has a severe
progression with onset prior to 2 years, with neurologic
disease, hepatosplenomegaly and lung disease. Death
usually occurs between 2 and 4 years of age due to lung
failure. Patients with Type 3 may have onset prior to 2
years of age, but the progression is not as severe. ese
individuals may survive into the third and fourth decade.
Apart from this, a perinatal lethal and a cardiovascular
form of GD also exist.
2. Case Presentation
A three and a half year old male child, Hindu by
religion, born to parents of non-consanguineous
marriage was admitted to a tertiary care hospital with
predominant clinical presentation of bicytopenia and
hepatosplenomegaly. e child had delayed milestones.
On examination, the child was pale. Liver was 5cm
palpable below the right costochondral margin. e
spleen was 10 cm palpable below the le costochondral
margin. Peripheral blood smear examination revealed
bicytopenia. Haemoglobin was 7.2g/dl and Platelet count
was 70,000/μL. Bone marrow biopsy was done. Bone
marrow biopsy showed sheets of Gaucher cells (Figure
1 & 2) seen as histiocyes with abundant granular and
Gaucher’s Disease- A case report
Preeti Bajaj1*, Jyoti Kasture2 and Balbir Singh Shah3
1Professor & HOD, Department of Pathology, Dr. Vasantrao Pawar Medical College, Hospital & Research Centre,
Nashik-422013, India; dr.prbajaj@gmail.com
2Assistant Professor, Department of Pathology, Dr. Vasantrao Pawar Medical College,
Hospital & Research Centre, Nashik - 422013, India
3Medical Director, Shri Guru Teg Bahadur Hospital, Ludhiana Formerly Medical Superintendent & Professor,
Department of Pathology, Dayanand Medical College & Hospital, Ludhiana - 141001, India
Keywords: Gaucher’s Disease, Glucocerebroside
Abstract
Gaucher’s Disease (GD) is an autosomal recessive systemic lysosomal storage disorder which is characterized by
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Case Report
Preeti Bajaj, Jyoti Kasture and Balbir Singh Shah
Vol 2 (2) | July-December 2015 | www.mvpjms.org MVP Journal of Medical Sciences | Print ISSN: 2340–263X | Online ISSN: 2348–2648
131
brillar cytoplasm. ese cells had small eccentrically
placed nuclei were noted. e gaucher cells had a
crumpled tissue paper appearance. e diagnosis of
Gaucher’s disease was given on bone marrow biopsy.
Enzyme β-glucocerebrosidase levels were outsourced.
β-glucocerebrosidase levels in peripheral leucocytes
were reported to be 0.31 nmol/h/mg protein. Values <
8.7 nmol/h/mg protein are consistent with a diagnosis of
Gaucher disease.
3. Discussion
GD is usually diagnosed by the demonstration of
characteristic “Gaucher cells” in the bone marrow.
Pseudo-Gaucher cells have occasionally been described
in various hematologic malignancies including multiple
myeloma, myelodysplastic syndrome, lymphomas,
chronic myelogenous leukemia and thalassemia5.
erefore, detection of reduced or absent β-glucosidase
(glucocerebrosidase) enzyme activity is the gold standard
for the diagnosis of all the variants of GD1. Absent or
reduced activity of this enzyme results in accumulation
of undigested materials (primarily in the lysosomes) and
interferes with the normal functioning of cells. e excess
accumulation of the glucocerebroside (glucosylceramide)
in the macrophages is the main manifestation in the
various visceral organs6. GD has a varied and multiorgan
presentation. Diagnosing GD may pose a challenge7.
Serum β-glucosidase levels < 15% of mean normal activity
conrms the diagnosis2.
Treatment is available in the form of enzyme
replacement therapy. For types 1 and 3, substrate
inhibition therapy represents a viable alternate approach
to enzyme therapy in the treatment of visceral pathology
in GD8. Bone marrow transplantation may benet Type
3 individuals. Currently, only supportive therapy is
available for Type 2.
Dierential diagnosis of GD must be kept while dealing
with patients having massive hepatosplenomegaly9.
Figure 1. Bone marrow biopsy, low power view: sheets of
histiocytes ( Gaucher’s cells) seen H &E, (x100).
Figure 2. Bone marrow biopsy, high power view: sheets of
histiocytes, with the abundant, granular and brillar cytoplasm
resembling a crumpled tissue paper. Most of them had single
nucleus with eccentrically placed nuclei- consistent with “Gau-
cher cells” H&E, (x400).
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