A case of acute lymphoblastic leukaemia, associated with cells resembling Gaucher cells in the bone marrow, is reported. The patient had no evidence of inherited Gaucher's disease and the ultrastructural appearance of the cells was consistent with pseudo-Gaucher cells described in other haematological diseases. This is the first report of these cells in association with acute lymphoblastic leuk...

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Gaucher Disease (GD) is the most common type of Lysosomal Storage Disorder and it is divided into three distinct subtypes. The authors here report four different cases of Gaucher Disease, with varying clinical manifestations, and the diagnosis of each established by the low level of Beta-Glucosidase enzyme as well as genetic DNA testing. The study also highlights the importance of early diagnos...

background gaucher’s disease (g.d.) is an autosomal recessive disorder resulting from the accumulation of glucocerebrosidase in the cells of macrophage-monocyte system as a result of a deficiency in lysosomal glucocerebrosidase. this enzyme is encoded by a gene on chromosome-1. here we report a case of gaucher’s disease .g.d is rare in yazd. case reports we reported a patient that presented wit...

BACKGROUND The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential biomarkers of sphingolipidoses and Niemann-Pick type C in plasma. METHODOLOGY We developed a sensitive and specific method enabling the simultaneous quantification of lysosphingolipids by LC-MS...

Gaucher-like or pseudo-Gaucher cells have been noted in a variety of conditions including acute lymphoblastic leukemia, Hodgkin's disease, thalassemia, and multiple myeloma. They have an eccentric, lobulated nucleus, foamy cytoplasm but lack the tubular inclusions seen in Gaucher cells. The pseudo-Gaucher cells have distinct appearances on electron microscopy which distinguish them from true Ga...

Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficiency of the lysosomal enzyme glucocerebrosidase. Three clinical phenotypes, type 1, nonneuronopathic; and types 2 and 3, acute and subacute neuronopathic are recognized. The incidence of Gaucher disease in the Thai population is unknown, but likely under-diagnosed. We performed molecular analysis in four patients,...

Type I Gaucher disease, the subject of this article, was initially reported by Gaucher' in 1882 as a non-leukaemic splenic epithelioma. The biochemical defect, an autosomal recessively inherited lysosomal glucocerebrosidase enzyme deficiency, was delineated in 1965,2 3 and more recently the full length coding DNA sequence has been cloned and characterised.4 Gaucher disease is conventionally cla...

Patients with Gaucher disease, perhaps due to chronic storage of glycolipids, apparently harbor a subclinical or underlying inflammation. Quantification of a baseline inflammatory profile in patients with Gaucher disease is more impressive when compared with that of matched healthy controls in a systematic, automated fashion. A mean of 16 healthy controls was generated for each of 50 patients w...

BACKGROUND The variants of neuronopathic Gaucher disease may be viewed as a clinical phenotypic continuum divided into acute and chronic forms. The chronic neuronopathic form of Gaucher disease is characterized by a later onset of neurological symptoms and protracted neurological and visceral involvement. The first-choice treatment for nonneuronopathic Gaucher disease is enzyme replacement ther...