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Paper text:
gaucher 's disease is a progressive , debilitating , and some times life threatening disease .
symptoms of gaucher 's disease can appear at any age , often at a very late age .
it is the most common lysosomal storage disorder , gene defect leads to deficiency or decreased activity glucocerebrosidase followed by accumulation of glucosylceramide .
this being a genetic disorder and is transmitted from parent to child , both parents must be carriers ; the carrier rate in general population is approximately 1 in 100 .
there is autosomal recessive transmission leading to varied clinical manifestations and may present with various clinical symptoms , often with some uncommon features .
therefore , it is very important to diagnose the disease early so as to give the best treatment and prevent further progress of the disease , as early onset of clinical symptoms and signs predispose patients to severe phenotype with irreversible complications .
here we have reported two cases with unusual presentations  case 1 was nonneuropathic ( type 1 ) , which has the highest prevalence and also the greatest variability . the signs and symptoms of type 1 disease demonstrated marked heterogeneity .
a one and half years old boy presented with weakness , pallor gradually increasing abdominal girth , and a swelling in the right axilla . there was no neurological manifestation . on examination , there was hepatomegaly and huge splenomegaly .
the axillary swelling appeared like an enlarged lymph node , but there was no other nodal enlargement , sternal tenderness was also absent .
blood examination revealed a total leukocyte count of 3,200 cells / m ; a normal differential count ; platelets were reduced ( 1 lakh / m ) ; hemoglobin was 7.6 gm / dl , abnormal cells were not detected in peripheral blood and liver function test was within normal limits .
fine needle aspiration cytology ( fnac ) was done from the axillary mass and smears showed sheets of mature lymphocytes , immature mononuclear cells and occasional megakarycytes along with few large histiocyte like cells [ figure 1 ] .
the smears were stained with periodic acid schiff ( pas ) and positivity of the histiocyte like cells with pas stain suggested our diagnosis to be gaucher 's disease with extra medullary hematopoiesis .
fine needle aspiration cytology from axillary mass showing gaucher 's cells ( h and e,400 ) final confirmation was done by doing the liver biopsy and demonstrating sheets of gaucher 's cells with abundant crumpled tissue paper like cytoplasm .
a five - year - old boy from bihar presented with low grade fever , increasing pallor and weakness . on examination
blood examination revealed a normal picture except that the erythrocyte sedimentation rate ( esr ) was very high108 mm in the first hour .
bone marrow examination revealed very low cellularity with m : e ratio within normal limits .
all cell lines showed normal maturation except erythroid series , which showed partial megaloblastic change and plasma cells were increased .
most important finding was presence of extra and intra cellular leishmania donovan ( l.d ) bodies .
serological tests were performed , the aldehyde test was positive , rk-39 was also positive , and the patient was diagnosed and treated for kala azar .
a splenic puncture was then performed , the smears from which showed plenty of gaucher 's cells .
a one and half years old boy presented with weakness , pallor gradually increasing abdominal girth , and a swelling in the right axilla . there was no neurological manifestation . on examination , there was hepatomegaly and huge splenomegaly .
the axillary swelling appeared like an enlarged lymph node , but there was no other nodal enlargement , sternal tenderness was also absent .
blood examination revealed a total leukocyte count of 3,200 cells / m ; a normal differential count ; platelets were reduced ( 1 lakh / m ) ; hemoglobin was 7.6 gm / dl , abnormal cells were not detected in peripheral blood and liver function test was within normal limits .
fine needle aspiration cytology ( fnac ) was done from the axillary mass and smears showed sheets of mature lymphocytes , immature mononuclear cells and occasional megakarycytes along with few large histiocyte like cells [ figure 1 ] .
the smears were stained with periodic acid schiff ( pas ) and positivity of the histiocyte like cells with pas stain suggested our diagnosis to be gaucher 's disease with extra medullary hematopoiesis .
fine needle aspiration cytology from axillary mass showing gaucher 's cells ( h and e,400 ) final confirmation was done by doing the liver biopsy and demonstrating sheets of gaucher 's cells with abundant crumpled tissue paper like cytoplasm .
a five - year - old boy from bihar presented with low grade fever , increasing pallor and weakness . on examination
blood examination revealed a normal picture except that the erythrocyte sedimentation rate ( esr ) was very high108 mm in the first hour .
bone marrow examination revealed very low cellularity with m : e ratio within normal limits .
all cell lines showed normal maturation except erythroid series , which showed partial megaloblastic change and plasma cells were increased .
most important finding was presence of extra and intra cellular leishmania donovan ( l.d ) bodies .
serological tests were performed , the aldehyde test was positive , rk-39 was also positive , and the patient was diagnosed and treated for kala azar . but even after adequate therapy there was only mild reduction in splenic size .
a splenic puncture was then performed , the smears from which showed plenty of gaucher 's cells .
the type i gaucher 's disease may present in infancy , typically showing anemia , thrombocytopenia , splenomegaly , and bone lesions .
extramedullary hematopoiesis ( emh ) generally occurs in patients with deficient bone marrow hematopoiesis secondary to either peripheral red cell destruction or marrow replacement .
rarely emh presents as a solitary mass posing a diagnostic dilemma . in the first case we saw the child presenting with axillary mass mimicking lymphadenopathy , but ultimately diagnosed as a case of emh in gaucher 's disease .
aspirated smears demonstrate tri lineage hematopoisis and in the present case the authors also found gaucher 's cells in the aspirate .
the second case of gaucher 's disease had another type of pathology , kala azar , which masked the typical clinical features .
splenomegaly was the most important clinical feature in both the cases and pancytopenia in the first one . although gaucher 's disease is well known in adult patients but about two - thirds of the patients present before the age of 20 and onset in childhood is predictive of severe and progressive phenotype .
the authors have emphasized the early diagnosis high lighting the uncommon presentations so that early treatment by enzyme replacement therapy can be started delaying the complications .
however , confirmation for the typing of the cases can only be done by studying the genetic mutations and development of gene therapy ( reintroduction of missing dna sequence ) hints the real causal therapy of the disease .
gaucher 's disease is the most common lysosomal storage disorder gene defect , which leads to deficiency or decreased activity of glucocerebrosidase , followed by accumulation of glucosylceramide . 
 there is autosomal recessive transmission leading to varied clinical manifestations . 
 this disease has three main types : type i  nonneuronopathic ; type ii  acute neuronopathic ; and type iii  chronic neuronopathic . 
 the nonneuronopathic type has the highest prevalence and also the greatest variability . 
 the authors here report two cases of gaucher 's disease with uncommon presentations in early childhood , highlighting the importance of early diagnosis of the disease , as now - a - days enzyme replacement therapy may arrest further progress of disease .