A RARE CAUSE OF AORTIC STENOSIS IN A SIBLING - MORQUIO SYNDROME - A CASE REPORT

Abstract

Morquio syndrome is an uncommon variant of autosomal recessive disorder caused by the deficiency of N acetyl galactosamine 6 sulfatase (GALNS) - a lysosomal enzyme, causing dental, cardiac and skeletal abnormalities. A male patient, 29 years of age came with complaints of difficulty in breathing since one month. He was born of a second degree consanguineous marriage and has no mental retardation. On clinical examination he was short in stature, had corneal clouding, widely spaced teeth, genu valgum, joint hypermobility, pectus carinatum and kyphoscoliosis. He had an ejection systolic murmur in aortic area on cardiovascular examination. He has one 26 year old sister with similar physical appearance and cardiac abnormalities. In Echocardiography they both found to have aortic valve calcification with severe aortic stenosis with mild aortic regurgitation. X ray findings of the hand showed shortening of the metacarpal with hypoplasia of the carpal bones, platyspondly of the cervical and thoracic vertebra, genu valgum and coxa valga defect. So he was diagnosed as adult mucopolysaccharoidosis type IV-A (Morquio syndrome) which was confirmed after clinical examination and genetic analysis