title: Cardiac and ocular manifestations in Egyptian patients with mucopolysaccharidoses.
abstract: 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%).
authors.affiliation: Genetics Unit, Department of Paediatrics, Ain Shams University, Cairo, Egypt.
authors.forename: R M
authors.initials: RM
authors.lastname: Shawky
authors.forename: M T
authors.initials: MT
authors.lastname: Abd el-Monim
authors.forename: A A
authors.initials: AA
authors.lastname: el-Sebai
authors.forename: S M
authors.initials: SM
authors.lastname: el-Sayed
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004396:Coloring Agents; D003318:Corneal Opacity / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology*; D003404:Creatinine / Q000652:urine; D018618:Echocardiography, Doppler, Color; D004534:Egypt / Q000453:epidemiology; D004586:Electrophoresis / Q000379:methods / Q000592:standards; D005260:Female; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D008297:Male; D008944:Mitral Valve Insufficiency / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000209:etiology*; D008946:Mitral Valve Stenosis / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000209:etiology*; D009083:Mucopolysaccharidoses / Q000150:complications* / Q000175:diagnosis / Q000652:urine; D009798:Ocular Hypertension / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology*; D009887:Ophthalmoscopy; D009896:Optic Atrophy / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology*; D010211:Papilledema / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology*; D014048:Tolonium Chloride
chemical_list: D004396:Coloring Agents; D006025:Glycosaminoglycans; D014048:Tolonium Chloride; D003404:Creatinine