Challenges of Care in Mucopolysaccharidosis IVa (Morquio Syndrome Type A) in a Resource-Constrained Setting: A Case Report

Abstract

Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio syndrome type A, is a rare inherited metabolic disorder resulting from the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme. A 5-year-old boy was referred to the Paediatric Endocrinology Clinic for evaluation and possible growth hormone therapy due to concerns about short stature. The patient was initially seen by the Orthopaedic Surgery team, who noted significant growth impairment and skeletal abnormalities. On examination, he had an abnormal gait. Radiological assessment revealed short and broad metacarpals, tapering phalanges, and hypoplastic, irregular carpal bones, which are classical features of mucopolysaccharidosis type IVA (MPS IVA). Enzyme analysis showed a markedly reduced level of N-acetylgalactosamine-6-sulfatase, confirming the diagnosis of MPS IVA. This case report highlights the challenges faced in diagnosing and managing this rare condition in a resource-constrained setting. This report underscores the importance of early diagnosis and access to enzyme replacement therapy (ERT), particularly in resource-limited regions.