1.
(East. Mediterr. health j).
em Inglês
| WHO IRIS
| ID: who-119116
RESUMO
Cardiac and ocular manifestations were evaluated in 21 patients clinically suspected of mucopolysaccharidosis. After electrophoresis analysis of urinary glycoaminoglycans, 3 patients were excluded because their results did not correlate with any known type of mucopolysaccharidosis. Echocardiography revealed abnormal findings in 11 patients [61.1%]. The mitral valve was the most commonly affected valve; 7 patients [38.9%] had thickened mitral valve and 6 had mitral regurge. Corneal opacities were found in 3 patients [16.7%] and progressive increase in intraocular pressure in 1 patient [5.6%], while fundus examination showed early optic atrophy in 1 patient [5.6%] and bilateral papilloedema in 2 patients [11.1%]