Related Experiment Video
Updated: Aug 2, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
Cardiac and ocular manifestations in Egyptian patients with mucopolysaccharidoses
R M Shawky1, M T Abd el-Monim, A A el-Sebai
1Genetics Unit, Department of Paediatrics, Ain Shams University, Cairo, Egypt.
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%).
Related Concept Videos
Lysosomal Hydrolases
Proteoglycans
Glycosaminoglycans
GAGS are found in the extracellular matrix of vertebrates, invertebrates, and bacteria. Due to their polar nature they attract water, and serve as excellent lubricants or shock absorbers in an animal body.
Hyaluronic...
Hyperosmolar Hyperglycemic State
Diabetic Retinopathy
Cirrhosis I: Introduction

