Mucopolysaccharidoses (MPS) are rare, metabolic lysosomal storage disorders caused by the deficiency of enzymes required for the stepwise breakdown of glycosaminoglycans (GAGs). We report a case that was discovered to be Mucopolysaccharidosis Type II and was presented to the hospital with signs and symptoms of congenital diaphragmatic hernia. The hernia was repaired, and the patient was discharged on BiPAP and High-flow Oxygen.
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