Morquio syndrome or something cryptic: think!
Keywords:Mucopolysaccharidosis, Dyggve-Melchior-Clausen syndrome, Rhizomelia, Intellectual disability
Morquio syndrome (MS) or mucopolysaccharidosis type IV A is an autosomal recessive lysosomal storage disorder caused by deficiency of N-acetylgalactosamine-6-sulfate sulfatase. The disorder is marked by characteristic physical features, skeletal abnormalities and normal intellect. We report a nine year old boy who presented with coarse facial features, barrel shaped chest, rhizomelic limb shortening and intellectual disability. Along with facial features, the initial radiological survey pointed to the diagnosis of MS. However when the urinary glycosaminoglycans came to be negative, the radiographs and clinical features were reviewed which led us to a rare syndrome with significantly different treatment and prognosis. A pediatrician should keep a high index of suspicion to pick up mimics of mucopolysaccharidosis as the variable prognosis and management protocol might be life saving in some cases.
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