A rare case of Morquio syndrome Type A: Its diagnostic and management hurdles

Morquio syndrome Type A is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in N-acetylgalactosamine-6-sulfate sulfatase. Multisystem involvement is a usual presentation but early onset of the disease can only have isolated skeletal involvement which may mimic spondyloepiphyseal dysplasia (SED). We report a rare Morquio syndrome Type A case with clinical and radiological findings similar to SED. Ultimate diagnosis can be confirmed by gene mutational analysis. After confirmation of the diagnosis, many challenges are witnessed as treatment is not readily available and is limited by its high cost. Multidisciplinary team involvement is required for the overall management of the patient.