In resource-constrained settings, mucopolysaccharidosis (MPS) is a rare hereditary metabolic illness that frequently remains undiagnosed. We present a scenario that illustrates the challenges in diagnosing and managing MPS because of test inaccessibility, and we propose potential approaches to minimize the hurdles. We recommend that physicians anticipate a rare genetic disease, such as MPS, based on the clinical history findings from routine radiological investigations. Additionally, stakeholders should perform risk stratification and implement screening tests as soon as possible to ensure that patients are effectively enrolled in treatment programs.
Keywords: Hunter syndrome; Mucopolysaccharidosis; early diagnosis; resource-limited setting; risk stratification; screening.