Gaucher Disease

Gauchers Disease: A Case Report

“…Gauchers disease(GD) is the commonest lysosomal storage disease seen in India and world wide.GD results from deficiency of a lysosomal enzyme glucocerebrosidase(also known as acid beta-glucosidase, GBA).Its frequency differs with different populations-being most prevalent-1:450 birth incidence in individuals of Ashkenazi Jewish descent [3,4].Although GD disease is well known in adult patients but about twothirdsof the patients present before the age of 20 and onset in childhood is predictive of severe and progressive phenotype. The most common signs and symptoms noted in GD are splenomegaly (95%), hepatomegaly (87%), radiological bone disease (81 %), thrombocytopenia(50%), anemia (40%), growth retardation (34%), bone pain (27%), and bone crisis (9%) [5].…”

“…GD2 is the acute neuronopathic and GD3 is the chronic neuronopathic type. GD3 is further subdivided in to 3subtypes a, b and c depending on the clinical features [3,6].…”

“…The symptoms of adultGaucher's disease arising as a result of this metabolic defect include bone pain and anaemia leading to tiredness. Bruising and bleeding also occur due to thrombocytopenia, both as a result of bone marrow infiltration and splenomegaly [1].Fatigue, nose bleeds, and easy bruising are a manifestation of the cytopenia [3]. Pathological fractures and bone pain occur if there is extensive expansion of marrow space.…”

“…Longitivity is shortened but not markedly [8].GD 2 is a neuronopathic from of disease with severe neurological disease and is usually fatal by 2 years of age.GD3 is the chronic neuronopathic formof GD and has a later onset than GD2.GD3 is characterized by a milder neurological involvement compared to that seen in GD2, in addition to the visceral and bone marrow involvement as in GD1. Neurologic progression is marked by severe hypertonia, rigidity, arching (opisthotonus), swallowing impairment, and seizures [3].…”

Actual reason for bone fractures in the case of a patient followed-up with the osteogenesis imperfecta: Gaucher�s Disease

“…Due to a series of mutations at the GBA (Glucosylceramide Beta) gene, which is localized at the chromosome 1q21., patients develop a lack of β-glucocerebroside (acid-β-glucosidase) enzyme coded by the gene. Because of this lack, patients exhibit an excessive accumulation of lypid glucocerebroside at the lysosomes of their macrophages (2,3). The disease is divided into three clinical types.…”