Acute Airway Crisis in Mucopolysaccharidosis VI: Management Challenges

Objectives: Mucopolysaccharidosis type VI is rare lysosomal storage disorder due to arylsulfatase B enzyme deficiency, leading to progressive multisystem disease and complex airway. Acute respiratory infections can precipitate airway embarrassment. A structured treatment guideline is currently lacking. We present 7 years old MPS VI male with respiratory distress highlighting the challenges in management. Methods: Case review focusing on clinical presentation, imaging findings, multidisciplinary deci-sion making during acute deterioration. Results: A child diagnosed with MPS VI at age of 3.5 years old, due to low arylsulfatase B enzyme activity and homozygous for c.275C>A p.(Thr92Lys) variant in ARSB gene. At 7 years, he presented with dyspnoea, increased respiratory effort with bilateral crepitations, noisy breathing. Initial man-agement included facemask oxygen, nebulised adrenaline, corticosteroids, bronchodi-lators. Computer tomography scan of the neck, chest showed complex upper airway, multiple tracheal narrowing, tortuosity, extra loop of truncus brachiocephalicus from arch of aorta. Potential interventions carried substantial risks due to abnormal airway and multisystem disease. Following extensive multidisciplinary discussion after careful consideration of the significant risks associated with invasive airway interventions, a shared decision was reached with the family to adopt a comfort focused palliative care approach. Despite the best supportive care, the child unfortunately passed away after 3 months. The family were involved in every decision process, were fully supported. Conclusion: MPS VI is associated with complex airways, multisystem disease. Multi-disciplinary decision making with family is critical to safe and appropriate care. The rarity of the disease, lack of guidelines, complex airways, multiple comorbidities make management challenging.