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%).
Assuntos
Opacidade da Córnea/etiologia , Insuficiência da Valva Mitral/etiologia , Estenose da Valva Mitral/etiologia , Mucopolissacaridoses/complicações , Hipertensão Ocular/etiologia , Atrofia Óptica/etiologia , Papiledema/etiologia , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Corantes , Opacidade da Córnea/diagnóstico , Opacidade da Córnea/epidemiologia , Creatinina/urina , Ecocardiografia Doppler em Cores , Egito/epidemiologia , Eletroforese/métodos , Eletroforese/normas , Feminino , Glicosaminoglicanos/urina , Humanos , Masculino , Insuficiência da Valva Mitral/diagnóstico por imagem , Insuficiência da Valva Mitral/epidemiologia , Estenose da Valva Mitral/diagnóstico por imagem , Estenose da Valva Mitral/epidemiologia , Mucopolissacaridoses/diagnóstico , Mucopolissacaridoses/urina , Hipertensão Ocular/diagnóstico , Hipertensão Ocular/epidemiologia , Oftalmoscopia , Atrofia Óptica/diagnóstico , Atrofia Óptica/epidemiologia , Papiledema/diagnóstico , Papiledema/epidemiologia , Cloreto de TolônioRESUMO
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%]