Death due to Complication of Morquio Syndrome

Morquio Syndrome is an autosomal recessive disease, categorized as Type-IV Mucopolysaccharidosis. The Mucopolysaccharidosis are a group of syndromes that results from deficiencies of lysosomal enzymes involved in the degradation of mucopolysaccharides (glycosaminoglycans), resulting in their accumulation in various parts of the body. In case of Morquio syndrome, the glycosaminoglycan that accumulates in the connective tissue is Keratan sulphate. The disease can lead to various complications, out of which more risks are associated with cervical myelopathy, restrictive pulmonary disease and cardiac disease. We report a case of six year old male suffering from Morquio syndrome having classical features like pigeon chest, Knock-knee deformity, coarse facial features and hepatomegaly. The parents had consanguineous marriage and two out of their children were affected.The boy was suffering from recurrent chest infections and died as a result of bilateral pulmonary pneumonitis. The individuals having Morquio Syndrome should be considered as high risk cases for the chest infections and should be treated accordingly.