Morquio syndrome: a report of a rare disease and literature review

Abstract

Morquio syndrome is a rare multisystem disease that leads to severe functional impairment. Serious morbidities and potentially fatal conditions may be present following affectation of various organs. Musculoskeletal abnormalities, including short stature, spinal deformities, hip dysplasia, genu valgum, pectus carinatum, among other abnormalities, constitute the common mode of presentation. This is a case report of a 28-year old male Nigerian student with severe musculoskeletal deformities, who presented with a one- year history of right hip pain and inability to walk of 5 months duration. He was 1.16 metre (116cm) tall and weighed 27kg, with subluxed hips, absent femoral heads, spine deformities and dysplastic acetabula. All deformities observed in the patient fit into a clinical suspicion of Morquio syndrome.

Keywords: Morquio, Musculoskeletal deformities, Rare disease, Nigeria