Morquio' s Syndrome Accompanied by Respiratory Failure

ABSTRACT

Authors experienced a case of Morquio' s syndrome accompanied by respiratory failure in a aged fifteen year old boy. Patient showed normal intelligence, but stunted growth with short trunk and unproportionately large head, pectus carinatum, kyposcoliosis, muscular weakness, paralysis and genu valgum. No other member of family was affected with this syndrome. There were radiological findings of subluxation between first and second cervical vertevrae, central beaking with thoracolumbar vertebra plana, wine glass appeared pelvis and shortening of carpal & metacarpal bones of both hands. There were biochemical findings of large proportion of chondroitin sulfate (87%) on urinary mucopolysaccharides examination. Resipratory failure occurred due to compression of cervical spinal cord by subluxation between first and second cervival vertebra. He was maintanied by ventilator, discharged. And he died.