Morquio’s Syndrome: A Rare Case.
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Date
2014-11
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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.
Description
Keywords
Morquio’s syndrome, MPS, mucopolysaccharidoses type IV
Citation
Patil Kiran S, Patil Mahantesh Y, Kaladagi Deepak, Gupta Srinath M, Gunjalli Vinay K. Morquio’s Syndrome: A Rare Case. Indian Journal of Clinical Practice. 2014 Nov; 25(6): 568-571.