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.