1/262. Different phenotypic expression in relatives with fabry disease caused by a W226X mutation.Two male relatives with fabry disease presented striking differences in clinical symptoms and age of onset. The propositus had retarded statural growth and skeletal dysplasia while his nephew suffered mainly from aggravating acroparesthesia and celiac disease. fabry disease is an X-linked inborn error of glycosphingolipid metabolism resulting from deficient activity of the lysosomal hydrolase alpha-galactosidase A (alpha-Gal A) enzyme. The alpha-Gal A gene is located at Xq22.1. Efforts to establish genotype-phenotype correlations have been limited because most patients have private mutations. In previous clinical studies performed in families with fabry disease, marked differences in phenotype are described between affected relatives. This family also demonstrates the difficulty in predicting the clinical phenotype in patients and relatives with the same alpha-Gal A mutation. Furthermore, in the absence of a family history, the diagnosis may be easily missed.- - - - - - - - - - ranking = 1keywords = disease (Clic here for more details about this article) |
2/262. Histopathology and electron and immunofluorescence microscopy of gingivitis granulomatosa associated with glossitis and cheilitis in a case of Anderson-fabry disease.A 17-year-old white boy with signs, symptoms, and family history of angiokeratoma corporis diffusum universale, Anderson-fabry disease (AFD), developed recurrent and then persistent swelling of both lips, erythematous hyperplastic gingivae, and a pebbled tongue. Positive blood findings were raised serum IgE, decreased T-cell level, and increased B-cell level. Histopathology of the gingiva showed noncaseating granulomas with multinucleate giant cells containing Schaumann bodies and large plasma-cell infiltrates in which immunofluorescence demonstrated immune globulins of several classes. Electron microscopy and histochemistry demonstrated ceramide in the vasculature. No glycolipid was found in the macrophages or giant cells of the granulomas which, in contrast, resembled sarcoid reactions. plasma cells with Russell bodies and immune reaction-induced degranulation of mast cells were also identified. The pathogenesis of the oral findings possibly relates to altered immune reactivity associated with damage to the microvasculature analogous to that in melkersson-rosenthal syndrome.- - - - - - - - - - ranking = 0.625keywords = disease (Clic here for more details about this article) |
3/262. Cardiac variant of Fabry's disease mimicking hypertrophic cardiomyopathy.A case of cardiac variant of Fabry's disease mimicking hypertrophic cardiomyopathy is reported. The diagnosis was obtained by biventricular endomyocardial biopsy showing severely hypertrophied myocardiocytes with large periodic acid-Schiff and sudan black positive perinuclear vacuoles, shown at electromicroscopy to consist of lamellated cytoplasmic figures highly suggestive of Fabry's disease, and confirmed by diagnostic low activity of alpha-galactosidase A in the peripheral lymphocytes. Invasive approach was suggested by the occurrence of a long-standing atrial fibrillation that failed to determine deterioration of cardiac function. Differential diagnosis between hypertrophic cardiomyopathy and the cardiac variant of Fabry's disease is relevant for prognostic and therapeutic implications including the perspective of an enzyme replacement therapy.- - - - - - - - - - ranking = 0.875keywords = disease (Clic here for more details about this article) |
4/262. Fifteen-year follow-up of a heterozygous Fabry's disease patient associated with pre-excitation syndrome.A 47-year-old woman with heterozygous Fabry's disease with pre-excitation syndrome has been followed up for 15 years. diagnosis was confirmed by the typical electron microscopic feature of the endomyocardial specimen and a decreased plasma alpha-galactosidase activity. As the disease progressed, the interventricular septum thickened from 11 to 17 mm as measured by echocardiography, while the AH interval was prolonged from 80 to 140 msec. In Fabry's disease, the PR interval has been reported to be variable from short PR to AV block. Therefore, this case may be helpful to understand the time course in the AV conduction abnormalities with the progression of Fabry's disease.- - - - - - - - - - ranking = 1keywords = disease (Clic here for more details about this article) |
5/262. Fabry's disease. Report of the case diagnosed on the basis of routine ultrastructural examination of the renal biopsy.A 45-year-old man who developed proteinuria was diagnosed as having Fabry's disease on the basis of renal histological findings and prominent decreases in alpha-galactosidase A activity in blood leukocytes.- - - - - - - - - - ranking = 0.625keywords = disease (Clic here for more details about this article) |
6/262. The ultrastructural changes in renal biopsy compatible with Fabry's disease. Case report.The authors reported the accumulation of osmiophilic myelin-like bodies typical for Fabry's disease in the rebiopsied 19-year-old woman clinically presenting with intermittent mild microhematuria and trace proteinuria. The light microscopy examination of the first kidney biopsy specimen (10 years ago) showed the presence of vacuolated cells in glomeruli, but electron microscopy study was not performed. The family history was negative for renal diseases. A biochemical enzymatic assay for alpha-galactosidase A was not performed. It is concluded that electron microscopy examination of kidney biopsy specimen is important for the investigation of storage diseases.- - - - - - - - - - ranking = 0.875keywords = disease (Clic here for more details about this article) |
7/262. Dynamic left ventricular arterial pressure gradient and sick sinus syndrome with heterozygous Fabry's disease improved following implantation of a dual chamber pacemaker.A 63-year-old woman with heterozygous Fabry's disease, sick sinus syndrome, sinus pauses, congestive heart failure, syncope, and a dynamic pressure gradient between the left ventricle and systemic arteries underwent implantation of a dual chamber (DDD) pacemaker. Following pacemaker implantation, the pressure gradient has been reduced and congestive heart failure controlled for the past 3 years.- - - - - - - - - - ranking = 0.625keywords = disease (Clic here for more details about this article) |
8/262. biopsy-proven cardiomyopathy in heterozygous Fabry's disease.A 23-year-old woman with heterozygous Fabry's disease who had acroparesthesia was admitted to hospital for precise examination of the disease before childbearing. She had no cardiac-related symptoms and no abnormality on physical examination. The alpha-galactosidase A activity in her leukocytes was present, but lower than normal. However, the endomyocardial biopsy showed specific changes for Fabry's disease. As Fabry's disease is a rare X-linked recessive inborn error of glycosphingolipid metabolism, heterozygous females are usually asymptomatic, but rarely can be affected as severely as hemizygous males. This is an isolated case of heterozygous Fabry's disease in a female in whom cardiac involvement was detected by endomyocardial biopsy, although she had no cardiac abnormality on physiological examinations. In conclusion, endomyocardial biopsy is useful for evaluation of the cardiac involvement of Fabry's disease even in an asymptomatic case.- - - - - - - - - - ranking = 1.25keywords = disease (Clic here for more details about this article) |
9/262. A case of symptomatic heterozygous female Fabry's disease without detectable mutation in the alpha-galactosidase gene.We report a case of symptomatic heterozygous female Fabry's disease with low alpha-galactosidase blood activity. We could not find any mutations in the coding regions of either the signal peptide or the enzyme subunit in our case.- - - - - - - - - - ranking = 0.625keywords = disease (Clic here for more details about this article) |
10/262. Induced sputum examination: diagnosis of pulmonary involvement in Fabry's disease.Fabry's disease is a rare inherited metabolic disorder caused by a deficiency in the enzyme alpha-galactosidase A. It can affect almost every organ, including the lungs. Confirmation of lung involvement has depended on invasive bronchial biopsy specimens or brushings to confirm the presence of typical lamellar inclusion bodies within bronchial epithelial cells. We report a patient with known Fabry's disease in whom these inclusion bodies were identified by examination of induced sputum.- - - - - - - - - - ranking = 0.75keywords = disease (Clic here for more details about this article) |
| | Next -> |