Case Report: A Rare Presentation Of Mucopolysaccharidosis IVA (Morquio Syndrome)

Abstract

Mucopolysaccharidosis IVA (MPS IVA), or Morquio Syndrome, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency of galactosamine-6-sulfatase due to mutations in the GALNS gene. This enzyme deficiency leads to the accumulation of glycosaminoglycans, primarily affecting the skeletal system. We report a 13-year-old male presenting with progressive skeletal abnormalities, growth retardation, and characteristic dysmorphic features, yet normal cognitive function. Radiological findings and genetic testing confirmed MPS IVA. Management involved enzyme replacement therapy with elosulfase alfa, physiotherapy, pain management, and genetic counseling. This case underscores the importance of early recognition and a multidisciplinary approach to improve outcomes and quality of life in patients with Morquio Syndrome. This case report details the clinical journey of a 13-year-old male diagnosed with MPS IVA, highlighting diagnostic challenges and emphasizing the importance of early intervention and a multidisciplinary approach.