ABSTRACT
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
ABSTRACT
The study was undertaken to assess the risk of development of rheumatic heart disease [RHD] in patients with initial isolated rheumatic arthritis [RA] and to identify the risk factors behind it. Clinical data of 100 patients with initial RA, who met the revised Jones criteria for acute rheumatic fever [ARF], diagnosed at the Alexandria University Children's Hospital, and their diagnoses dated back at least one year were retrospectively reviewed. Age at diagnosis was 7.9 +/- 3.29 years [mean +/- SD, range 3-16 years]. Echocardiographic findings at the initial episode were obtained from the hospital charts. The average duration of follow up of our patients was 7.5 +/- 4.42 years [range 1-21 years], and age at the time of enrollment was 15.4 +/- 5.09 years [mean +/- SD, range 7-31 years]. Complete clinical and echocardiographic examinations were done for all patients to detect the presence and severity of cardiac involvement [if any]. Our results showed that 23 patients had got one or more recurrences during the period of follow-up with a total of 39 episodes of recurrent rheumatic activity. Migratory polyarthritis constituted 66.7% of these episodes, carditis 17.9%, and 15.4% were in the form of chorea. Twelve of the 23 patients had definite valve lesions, although 6 of them did not experience carditis during recurrences. Seventeen patients had no clinical evidence of recurrent rheumatic activity, still developed RHD. So, a total of 29 of our patients [29%] developed RHD at the end of follow- up period. About 60% of them developed RHD within the first 5 years of the acute episode. Mitral regurgitation was the commonest valve lesion. Echo proved to be of great value in detecting cases with abnormal valve regurgitation in the absence of clinically audible murmur [silent murmur]. Patients with initial isolated RA should be carefully monitored, undergone frequent echo examinations for early detection of valve lesion which will influence the prognosis of these patients. Development of RHD in these patients should be considered while deciding the duration of secondary prophylaxis in these patients