Annals of Medicine and Surgery · 6 authors, 3 centres
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A 15-year-old male presented with clinical and radiological features consistent with Hurler-Scheie syndrome (MPS I), including facial dysmorphism, skeletal abnormalities, corneal clouding, and cognitive impairment, but confirmatory enzyme testing could not be performed due to unavailability. The case illustrates the diagnostic and therapeutic challenges of managing MPS I in a low-middle-income setting where standard treatments such as HSCT and ERT are largely inaccessible.
This case report describes a 15-year-old male who presented with lower respiratory tract infection and a history of facial dysmorphism, skeletal abnormalities, corneal clouding, and below-normal cognitive function consistent with Hurler-Scheie syndrome, the intermediate form of mucopolysaccharidosis type I. Radiological findings included inverted J-shaped sella turcica, bullet-shaped phalanges, thoracolumbar kyphosis, and acetabular dysplasia. The diagnosis was based on clinical and radiological findings, as confirmatory enzyme assays and urine glycosaminoglycan testing were unavailable. The authors discuss HSCT as the gold standard when performed before age 2 years and before cognitive impairment, and laronidase enzyme replacement therapy as another option, noting that in resource-limited settings treatment remains primarily symptomatic.
