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Gaucher’s disease (GD) is the most common hereditary lysosomal storage disorder, with a prevalence of 1:57 000 in the general population.1 The disease results from mutations in the glucocerebrosidase (GBA) gene, localised in chromosome 1 (the most frequent mutation is N370S) and has an autosomal recessive pattern of transmission. As a result of such mutations, there is decreased activity of the enzyme and subsequent glucocerebroside accumulation in cells of the macrophage-monocyte system. This process may lead to hepatosplenomegaly, bone disease, and pancytopenia.
GD is classically divided into three types, according to the presence of neurological symptoms and the dynamics of the developing clinical picture.2 Type 1 GD is the most common, affects mainly Ashkenazi Jews, and until recently was considered non-neuronopathic. It may present at any age and its course and presentation are variable. Many type 1 GD patients remain virtually asymptomatic, being diagnosed during evaluation for a non-related disorder or familial screening of a symptomatic relative.
In juvenile GD (type 3), movement disorders are frequently found, but there is growing evidence that neurological symptoms, particularly parkinsonism, may also occur as a late complication of type 1 GD.
The following case report illustrates such situation. …
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