SPLENOMEGALY (GAUCHER)

Gaucher Splenomegaly: Diagnosed by Spleen Puncture before Operation

Splenomegaly, Cardiomegaly, and Osteoporosis in a Child with Gaucher Disease

A 15-month-old girl, born to the consanguineous parents, was referred with the sign of massive splenomegaly associated with thrombocytopenia and anemia. Plasma Chitotriosidase estimation was carried out as a screening test and was found to be normal with reduced activity of β-glucosidase in leucocytes suggestive of Gaucher disease. At the age of 4 years, severe osteoporosis and cardiomegaly wit...

Chronic myeloid leukemia with marked splenomegaly and pseudo-Gaucher cells

which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. A 17-year-old boy with no specific medical history presented with abdominal distension. A complete blood analysis revealed a leukocyte count of 151.6×10 9 /L. A contrast-enhanced abdominal computed tomography image showed marked splenomegaly (A) and mildly e...

Splenomegaly as a Primary Manifestation of Gaucher Disease in a Young Adult Woman

Gaucher disease is the most common lysosomal storage disease. It is caused by the defective activity of acid β-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 becaus...

Splenomegaly, hypersplenism, and hereditary disorders with splenomegaly

Splenomegaly, sometimes of massive extent, occurs in a large number of hereditary diseases, some relatively prevalent and others, rare to ultra-rare. Because physicians are often unfamiliar with the less common disorders, patients may suffer because of diagnostic delay or diagnostic error and may undergo invasive, non-innocuous procedures such as splenectomy that are potentially avoidable were ...