Morquio’s Syndrome: A Rare Case.

ABSTRACT

Morquio’s syndrome is an autosomal recessive disorder due to deficiency of N-acetylgalactosamine-6 sulfate. Presented here is the case of a 4-year-old girl with complaints of deformity of bilateral lower limbs since 6 months. Examination revealed widely spaced teeth, corneal opacity, pectus carinatum, bilateral genu valgum and flat feet. X-rays of femur showed minimal metaphyseal widening, widened carpal bones and pointing metacarpals and beaking of the thoracic and lumbar vertebrae. She was diagnosed to be suffering from Morquio’s syndrome. Mucopolysaccharidoses (MPS) are a rare group of metabolic disorders due to deficiency of enzymes responsible for degradation of glycosaminoglycans. Treatment is mainly symptomatic.