RESUMEN
Gauchers disease is a rare hereditary metabolic disorders, in which there is deficiency of glucosylceramide I3 glucosidase with accumulation of enzyme substrate, glucosulceramide in reticuloendothelial cells and presence of Gaucher cells in the reticuloendothelial system [1,2]. Regardless of the basic mechanism, the tissues likely to be the most seriously affected are those in whichlipid turnover is high either because of normal metabolic requirement as in developing nervous system or when lipid catabolism is a major cell function as a result of phagocytosis and scavengering activity as in the monocytes-macrophage system.[3]. It is well known as an autosomal recessive disorder, occasional dominant transmission with incomplete pemntrance has been suggested evidence indicated that the various forms of the disease represent allelic disorders with different mutations in the structural gene for the enzyme.the glucocerbrosidase structural gene was .found to be located on the long arm of chromosome one at Iq 21. [4] Three clinical variants of gaucher s disease have been defined. Type 1 [chronic non-neuropathic, adult], is characterized by hepatosplenomegaly, anemia, thrombocytopenia and bone paintype 2 [acute neuropathic] is characterized by rapidly progressive central nervous system disease, onset of symptoms is usually sudden, severe and occurs before the age of 6 months which results in death by 3 years of age.type 3 [subacute neuropathic, juvenile]. have systemic symptoms similar to those of type 1 and 2 but the neurological manifestations appear during childhood or adolescence.[5,6]. A definitive diagnose has been established by the demonstration of the enzyme deficiency in leukocytes or cultured skin fibroblast. [7, 8]. The proper diagnosis of the affected cases and detection of heterozygous relatives are very important for proper genetic counseling. [9]