it is caused by the defective activity of acid -glucosidase , which results in the accumulation of lipid glucocerebroside in macrophages throughout the body [ 3 , 4 ] . there are many manifestations of gaucher disease , such as hepatosplenomegaly , anemia , thrombocytopenia and bone marrow infiltration with characteristic storage cells , gaucher cells and bony lesions . the most common form is type 1 , characterized by a lack of primary neurological involvement but with involvement of the visceral organs to varying degrees . however , neurological involvement occurs early during disease progression in type 2 disease and later in type 3 disease . in fact types 2 and 3 have been termed acute and subacute neuronopathic , respectively , based on the rapidity of progression of central nervous system deterioration and at onset . the patient , an 18-year - old woman , came under our observation due to the persistence , for more than six months , of widespread articular pain , especially during the night , easy fatigue and the occasional occurrence of thrombocytopenia . for these reasons she had already been to another hospital and a not better specified diagnosis of  autoimmune - based illness had been formulated , for which cyclosporine therapy was prescribed , pending a probable splenectomy . during the stay in our hospital the patient complained of bone pain , particularly articular and in the lower limbs , although to a lesser degree than before beginning the previously mentioned immunosuppressive therapy , and easy fatigue . no signs worth noting emerged from anamnesis . on objective examination the patient was found to be in a reasonably good general condition , alert and well oriented in time and space , with normal facies , negligible decubitus and no signs of bilateral peripheral edemas . the skin had a normal blood supply and was normally hydrated , and the subcutaneous panniculus adiposus was normally represented and distributed . the muscular mass was normotonic and normotrophic and the superficial lymph node system was undamaged . the results of the hematochemical examinations carried out were normal except for a slight enzymatic cholestasis ( -gt < 2 ) and a slight hypertriglyceridemia . protein electrophoresis showed an insignificant increase in alpha-2 globulin and a slight reduction in beta-2 globulin . blood count showed hemoglobin equal to 10 g / dl , hematocrit equal to 29.4% , a red blood cell count of 3,720,000 , a white blood cell count of 5,270 , mcv equal to 79.1 fl and a platelet count of 115,000 . blood coagulation tests showed a pt of 68.4% and an aptt of 37.80 s. abdominal nuclear magnetic resonance imaging ( nmri ) showed :  a considerably enlarged liver ( cranio - caudal diameter 24 cm ) ; splenomegaly ( cranio - caudal diameter 22 cm , transverse diameter 11 cm ) with dilation of the spleen vein. for a more in - depth diagnostic analysis the patient was subjected to a hepatic biopsy with the diagnosis of hepatic tissue characterized by marked hypertrophy of kupffer cells ( pgm-1 positive to immunohistochemistry ) with extensive cytoplasm with a wrinkled appearance , eosinophilic with pas diastase staining : morphological report indicative of gaucher disease. based on these results we carried out an analysis of the glucocerebrosidase gene through amplification of a dna sequence ( pcr ) , detecting the presence of the n370s mutation in both alleles . the overall picture was within the norm except for the presence of structural alterations in the proximal metaphyseal and diaphyseal region of the right tibia , compatible with gaucher disease , and a dexa study showed  particularly low bmd compared to normal limits for the same gender and age. nmri of the cranium was negative . on completion of the diagnostic procedure , as a result , the patient was discharged with enzymatic replacement therapy . the follow - up of this patient after a year of therapy indicates that her present condition is good , she has neither cholestasis nor hypertriglyceridemia and there is satisfactory reduction in splenomegaly , hypersplenism and articular pain . certainly , apart from the general ( fatigue , bone pain , etc . ) or laboratory ( anemia , thrombocytopenia , etc . ) signs and suspected pathology detected by nmri , as in this case , the diagnosis of gaucher disease is established histologically by examining bone marrow or tissue from liver or spleen biopsies . however histological diagnosis of gaucher disease is not always reliable because it is not easy to differentiate the abnormal macrophages , in fact other similar cells are present in hemorrhagic disorders , leukemia , lymphoma , osteomyelitis and legg - calv - perthes disease , in fact , finally the histological diagnosis of gaucher requires an invasive procedure such as a bone marrow biopsy and only occasionally and unfortunately a liver or spleen biopsy is enough for diagnosis . an alternative approach used by us is that of dna analysis . of more than 200 different mutations identified in gaucher disease patients , only five have any general frequency . the n370s and l444p mutations have some predictive value and these mutant alleles account for about half of identified gaucher disease patients of european descent . the n370s mutation is the most common mutation in the ashkenazi jewish variant of type 1 gaucher disease and is the most frequent mutation found in such patients in north america and europe . the presence of a single n370s allele predicts non - neuronopathic disease , whereas n370s allele in conjunction with another mutant allele predicts more severe disease ; the l444p homozygous state has a very high association with the neuronopathic variants such as type 2 or 3 gaucher disease [ 10 , 11 , 12 ] . to classify or characterize patients with this pathology , a physical and neurological examination is necessary to exclude the presence of strabismus , saccadic initiation abnormalities of the eye , opisthotonic posturing and bulbar palsy / paresis . this case is a case of type 1 gaucher disease because there is a lack of primary neurological involvement but we have , instead , an age - independent involvement of the visceral organs . symptomatic children designated as type 1 can experience variably progressive hepatosplenomegaly and/or hematologic abnormalities ; in fact thrombocytopenia is often an early finding and anemia is somewhat less common and usually mild . growth retardation is a common and often unappreciated sign without concordance with progression of hepatosplenomegaly , but our patient showed regular growth . hepatomegaly can be severe and splenomegaly is present in most patients and may be marked , as in our case . osteopenia and osteoporosis have become increasingly diagnosed in recent years , especially in children , but osteoporosis by dexa during puberty is very important . the skeletal involvement of gaucher disease is characterized by the infiltration of bone marrow   with possible edema or ischemia , osteopenia with an abnormal decrease in mineral bone density and bone mass , localized or diffuse , erlenmeyer flask deformity , osteonecrosis with bone death caused by chronic ischemic events and associated with acute pain , bone crisis that is a severe weakening episodic manifestation with a high fever , pathological fractures , general bone pain and asymptomatic growth retardation . the development of skeletal involvement in gaucher disease is present in several ethnic groups as ashkenazi jewish , dutch and japanese . for the treatment of gaucher disease physicians were faced with the difficulty of treating patients before enzyme replacement therapy became available by ensuring the patients with high quality of life . splenectomy is a possible measure for correcting thrombocytopenia , but today it is generally deferred as long as possible because of the suspicion that it accelerates the deposition of glycolipid at other sites , but the evidence is anecdotal , and also because the response to therapy in this sense is good and splenectomy is carried out much less frequently , but if thrombocytopenia does not respond quickly to enzyme replacement therapy , splenectomy may be in order . recently the history of enzyme replacement therapy has been reviewed and there is no question that the therapy is effective , although it is extremely costly and the issue of dosage is often controversial . other studies , especially with chemical inhibitors of glucosylceramide synthase , are still in progress . although gaucher disease is a rare disorder , today many specialists , especially pediatricians , identify and will continue to identify patients with this pathology in their practice , so it is very important to classify or characterize these patients in a precise manner , make a complete diagnosis with the help of the many diagnostic resources now at our disposal , especially with genetics , radiology and new techniques of advanced microscopy , also because gaucher disease requires a long and complex management from early life to adulthood .
gaucher disease is the most common lysosomal storage disease . 
 it is caused by the defective activity of acid -glucosidase , which results in the accumulation of lipid glucocerebroside in macrophages throughout the body . in this case report 
 we describe the case of a young adult woman with splenomegaly as the primary manifestation of this pathology . 
 this is a case of type 1 gaucher disease because there is a lack of primary neurological involvement but we have , instead , an age - independent involvement of the visceral organs . 
 it is very important to classify or characterize these patients in a precise manner and to make a complete diagnosis with the help of the many diagnostic resources now at our disposal , especially with genetics , radiology and new techniques of advanced microscopy , also because gaucher disease requires a long and complex management from early life to adulthood .