RESUMEN
Gaucher disease is the most prevalent lysosomal storage disease which results from inherited deficiency in the glucocerebrosidase enzyme. Three main clinical forms have been described, type I non-neurophatic, type II acute neuropathic and type III subacute neuropathic [1]. In this study, we present specific characteristics, as well as our experience in diagnosing the cardiac abnormalities in a group of Egyptian patients with this disease. The study included 22 patients with Gaucher disease attending Children's Hospital, Alexandria University. The recombinant enzyme imiglucerase [cerezyme] was given in a dose of 60 IU/kg/2 weeks [2]. Hemoglobin, plasma chitotriosidase and abdominal ultrasound were assessed before starting therapy and every 6 months. Molecular analysis was done to 17 patients. At presentation, the mean age was 7.94 +/- 6.26 years. 6 patients [27.2%] had type I, 16 patients had type III Gaucher disease [72.7%]. The commonest genotype was homozygous L444P which was present in 11 patients [50%] followed by homozygous D409H found in three patients [13.6%]. Gaucher's disease leads to deposition of glucocerebrosides in various organs. Recently, type IIIC Gaucher's disease, homozygous for the D409H mutation, has been identified; this is an ultra-rare cardiac variant with progressive calcification of aortic and/or mitral heart valves[3]. In this study the cardiac evaluation through clinical examination and investigations of the cases revealed that [50%] had positive cardiac findings