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KMID : 0357920060400000199
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Korean Journal of Pathology
2006 Volume.40 No. 0 p.199 ~ p.199
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Type 1 Gaucher Disease, Adult Onset (Nonneuronopathic Form) - A Case Report -
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Kim DH
Lee HJ/Kim EK/Lee WM/Joo JE
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Abstract
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Gaucher disease is a relatively common, autosomal recessive lysosomal disorder. It is caused by a deficiency of activity of the enzyme glucocerebrosidase (β-glucosidase) and consequent storage of the substrate gluco-cerebroside in cells of monocyte/ macrophage lineage. These cells become enlarged, long-lived and numerous, infiltrate and may damage and impair function of various tissues and organs. It resulting in hepatosplenomegaly, pancytopenia, growth retardation and skeletal involvement. Based on the presence and rate of progression of neurological symptoms, Gaucher disease is classified into three distinct variants- types 1, 2 and 3. In type 1 Gaucher disease, the most common form, patients have no neurological manifestations and a chronic clinical course. A clinical hallmark of type 1 Gaucher disease is variability in age of onset, severity and progression. The diagnosis can be established in infancy, adolescence or adult. We report a case of nonneuropathic form adult onset type 1 Gaucher disease in a 45 year old woman. The patient was admitted because of right femoral neck fracture. She has the past history of splenectomy due to splenomegaly twenty years ago. She suffered from 20 year history of chronic anemia. In family history, she has seven brothers and sisters, and her elder brother has the history of splenectomy due to splenomegaly, femoral neck fracture and chronic anemia. Other brothers and sisters, her parents and grandparents are unremarkable. Laboratory data showed a low hemoglobin level, high ferritin level, thrombocytopenia, increased AST/ALT level, and increased γ-GTP/ALP level. Radiologic examinations revealed right femoral neck fracture and multiple osteolytic lesions. Microscopical examination revealed massive infiltration of the marrow space by large histiocytes. These Gaucher cells have a characteristic crumpled- or wrinkled-paper appearance of the cytoplasm.
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