Discussion:
This case report describes a case of an 11 years old boy diagnosed with probable MPS II from the clinical correlations and radiological findings in a resource-limited setting where the confirmatory biochemical tests were not available. Since Infants with attenuated MPS appear pretty normal at birth, and early developmental milestones may also be typical. At the same time, some signs and symptoms overlap with common childhood complaints; often, MPS can stay undiagnosed until a later part of their childhood. 16 In our case, the patient showed a delay in reaching his early developmental milestones and developed characteristic coarse facial features with repeated visits at the primary care center with recurrent respiratory tract infection. The possibility of a rare and genetic disease could not be investigated even after the presence of multiple red flag signs16 that a single illness could explain otherwise.
The presentation of this case is consistent with the expression of MPS I & II in Table 1. However, he did not have any corneal change consistent with his MPS II diagnosis 16. Previous cases reported with tonsillitis, adenoids, polyp presence on the laryngeal inlet, polypoid lesions, supraglottic narrowing, thickening of tongue, oropharyngeal mucosa due to deposition of glycosaminoglycans (GAG) explained the rationality of the dysphagia and sleep apnea in our patient. 17 Structural involvement of his heart and brain couldn’t be detected as no echocardiography, computed tomography, and magnetic resonance imaging tests were done. A screening test to diagnose mucopolysaccharidosis biochemically (urine for GAG test) and enzyme assay was initially planned to do. Still, it couldn’t be implemented due to the unavailability and financial constraint of the family. After nine days of his hospital stay, the family was discharged against medical advice.
Even though this patient did not have the financial capability to afford the definite treatment of the disease and thus only received supportive care, still the rationality of treating this patient with ERT or HSCT remained open to debate since the efficacy of ERT and HSCT is presumably better in the early inception of the disease. 18However, studies denoted that MPS II patients, irrespective of the age of presentation and CNS involvement, should receive ERT that may attenuate the disease’s severity. 19
This case depicts a dilemma for the patient, his family members and the physicians. His family and the physician have faced that lack of testing facility led to delayed diagnosis at an older age, which hampers the capability of available treatment to work as the irreversible changes have already occurred. Therefore, improve disease recognition and early diagnosis through precise clinical evaluation, especially in resource-limited settings is at utmost necessity. The stakeholders at resource-limited stages can follow the guideline to categorize possible MPS patients into high-risk and low-risk groups so that screening tests at an early age can be implemented 11. In turn, this will help patients avail the novel therapeutics, hematopoietic stem cell transplantation, or enzyme replacement therapy that are likely to increase survival rates while significantly improving their quality of life. Moreover, initiatives should be taken to invest more in research to discover novel, cost-effective, and sustainable treatment approaches, which may act even in elder age.