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BACKGROUND Gaucher’s disease is one of the most common lysosomal storage diseases characterized by hematologic abnormalities, organomegaly, and skeletal involvement. It is caused by reduced activity of the enzyme acid β-glucosidase which is encoded by a gene on chromosome 1q21-q311. There are 3 clinical subtypes distinguished by the presence or absence and progression of neurologic manifestations: type 1 or the adult, non neuronopathic form; type 2, the infantile or acute neuronopathic form; and type 3, the juvenile or subacute neuronopathic form3. Here we report a case of Gaucher’s disease that presented with pancytopenia and splenomegaly. We present this case to emphasize the importance of considering storage disorders like Gaucher’s disease when evaluating a case of unexplained pancytopenia and organomegaly even in adults CASE PRESENTATION A 20 year old female presented with generalised weakness and easy fatigability, menorrhagia and dragging sensation in the left upper quadrant of abdomen. On physical examination, She had massive splenomegaly with firm consistency, regular margin and smooth surface and a non tender, mild hepatomegaly. Lab investigations showed pancytopenia. Bone marrow biopsy was done which revealed hypercellular marrow with clusters of ovoid macrophages with abundant fibrillary cytoplasm and round eccentric nucleus (gaucher cells). To confirm the diagnosis of Gaucher’s disease (Type 1), β-glucosidase enzyme assay by fluorometry method was done which showed β-glucosidase level of 0.51 nmol/hour/ml (normal value >2 nmol/hour/ml). Final diagnosis was G.D (type-1). CONCLUSIONS This case emphasises the importance of considering storage disorders like Gaucher’s disease in patients presenting with pancytopenia and organomegaly even in adulthood. A high index of suspicion is needed for early diagnosis so that timely and appropriate treatment can be administered. |
