{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T12:51:20Z","timestamp":1774615880598,"version":"3.50.1"},"reference-count":23,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T00:00:00Z","timestamp":1774569600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background and Clinical Significance: Mucopolysaccharidosis type VI is a 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 a 7-year-old MPS VI male with respiratory distress, highlighting the challenges in management. Case Presentation: Case review focusing on clinical presentation, imaging findings, and multidisciplinary decision-making during acute deterioration. A child diagnosed with MPS VI at the age of 3.5 years old, due to low arylsulfatase B enzyme activity and homozygous for c.275C&gt;A p.(Thr92Lys) variant in the ARSB gene. At 7 years of age, he showed the signs of dyspnoea, increased respiratory effort with bilateral crepitations, and noisy breathing. Initial management included facemask oxygen, nebulised adrenaline, corticosteroids, and bronchodilators. Computer tomography scan of the neck and chest showed a complex upper airway, multiple tracheal narrowing, tortuosity, and an extra loop of truncus brachiocephalicus from the arch of the 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 was involved in every decision process and was fully supported. Conclusions: MPS VI is associated with complex airways and multisystem disease. Multidisciplinary decision-making with family is critical to safe and appropriate care. The rarity of the disease, lack of guidelines, complex airways, and multiple comorbidities make management challenging.<\/jats:p>","DOI":"10.3390\/diagnostics16071009","type":"journal-article","created":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T11:32:47Z","timestamp":1774611167000},"page":"1009","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Acute Airway Crisis in Mucopolysaccharidosis VI: Management Challenges"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0639-8879","authenticated-orcid":false,"given":"Assel","family":"Tulebayeva","sequence":"first","affiliation":[{"name":"Paediatric Department,  Asfendiyarov Kazakh National Medical University, Almaty 050012, Kazakhstan"},{"name":"Scientific Center of the Pediatrics and Pediatric Surgery JSC, Almaty 050060, Kazakhstan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9495-7764","authenticated-orcid":false,"given":"Chaitanya","family":"Gadepalli","sequence":"additional","affiliation":[{"name":"Salford Care Organisation, Northern Care Alliance NHS Foundation Trust, The University of Manchester, Manchester M6 8HD, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7564-6867","authenticated-orcid":false,"given":"Maira","family":"Sharipova","sequence":"additional","affiliation":[{"name":"Scientific Center of the Pediatrics and Pediatric Surgery JSC, Almaty 050060, Kazakhstan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,3,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Mehta, A.B., and Winchester, B. (2012). Lysosomal Storage Disorders: A Practical Guide, Wiley-Blackwell Chicester.","DOI":"10.1002\/9781118514672"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"v4","DOI":"10.1093\/rheumatology\/ker394","article-title":"Overview of the mucopolysaccharidoses","volume":"50","author":"Muenzer","year":"2011","journal-title":"Rheumatology"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1007\/s10545-011-9359-8","article-title":"Cardiac disease in patients with mucopolysaccharidosis: Presentation, diagnosis and management","volume":"34","author":"Braunlin","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_4","unstructured":"Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D., Childs, R., and Kinzler, K.W. (2001). The mucopolysaccharidoses. The Metabolic and Molecular Bases of Inherited Diseases, McGraw-Hill. [8th ed.]."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/1750-1172-5-5","article-title":"Mucopolysaccharidosis vi","volume":"5","author":"Valayannopoulos","year":"2010","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1056\/NEJM199610033351405","article-title":"Clinical and biochemical manifestations of hyaluronidase deficiency","volume":"335","author":"Natowicz","year":"1996","journal-title":"N. Engl. J. Med."},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Al Fahdi, I., Singh, S., Yadavalli, K., Chatti, K., Bhavani, G.S., and Girisha, K.M. (2025). Syndrome of the Month: ARSK\u2014Related Mucopolysaccharidosis Type 10. Am. J. Med. Genet. Part A, 197.","DOI":"10.1002\/ajmg.a.64210"},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Tulebayeva, A., Mukhambetova, G., Sharipova, M., and Tylki-Szymanska, A. (2025). The birth prevalence of mucopolysaccharidosis types I, II, III, IVA, VI, and VII in the Republic of Kazakhstan between 1984 and 2023. Diagnostics, 15.","DOI":"10.3390\/diagnostics15060679"},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"D\u2019Avanzo, F., Zanetti, A., De Filippis, C., and Tomanin, R. (2021). Mucopolysaccharidosis type VI, an updated overview of the disease. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms222413456"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"385","DOI":"10.2741\/4490","article-title":"Mucopolysaccharidosis VI: Pathophysiology, diagnosis and treatment","volume":"22","author":"Harmatz","year":"2017","journal-title":"Front. Biosci. (Landmark Ed.)"},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Gadepalli, C., Stepien, K.M., Sharma, R., Jovanovic, A., Tol, G., and Bentley, A. (2021). Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score. J. Clin. Med., 10.","DOI":"10.3390\/jcm10153275"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1002\/humu.20534","article-title":"Mutational analysis of 105 mucopolysaccharidosis type VI patients","volume":"28","author":"Karageorgos","year":"2007","journal-title":"Hum. Mutat."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/j.bja.2025.10.006","article-title":"Difficult Airway Society 2025 guidelines for management of unanticipated difficult tracheal intubation in adults","volume":"136","author":"Ahmad","year":"2025","journal-title":"Br. J. Anaesth."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1186\/s13023-019-1074-9","article-title":"Recommendations for the management of MPS IVA: Systematic evidence-and consensus-based guidance","volume":"14","author":"Akyol","year":"2019","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1503","DOI":"10.1007\/s00247-018-4139-3","article-title":"Mucopolysaccharidoses: Overview of neuroimaging manifestations","volume":"48","author":"AlSayed","year":"2018","journal-title":"Pediatr. Radiol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.ymgme.2021.03.006","article-title":"Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy","volume":"133","author":"Garcia","year":"2021","journal-title":"Mol. Genet. Metab."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1186\/s13019-021-01530-x","article-title":"Double valve replacement in a patient with Maroteaux\u2014Lamy syndrome as an ultimate team challenge","volume":"16","author":"Demis","year":"2021","journal-title":"J. Cardiothorac. Surg."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1136\/thorax.58.5.458","article-title":"Upper airways abnormalities and tracheal problems in Morquio\u2019s disease","volume":"58","author":"Walker","year":"2003","journal-title":"Thorax"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1111\/j.1460-9592.2012.03825.x","article-title":"A retrospective audit of anesthetic techniques and complications in children with mucopolysaccharidoses","volume":"22","author":"Frawley","year":"2012","journal-title":"Pediatr. Anesth."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"112167","DOI":"10.1016\/j.ijporl.2024.112167","article-title":"Tracheostomy in children with mucopolysaccharidosis: A systematic review","volume":"187","author":"Galluzzi","year":"2024","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1765","DOI":"10.1016\/j.ijporl.2006.05.021","article-title":"Complications of tracheotomy in patients with mucopolysaccharidoses type II (Hunter syndrome)","volume":"70","author":"Jeong","year":"2006","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1186\/s13023-025-03818-w","article-title":"Evidence of inequities experienced by the rare disease community with respect to receipt of a diagnosis and access to services: A scoping review of UK and international evidence","volume":"20","author":"Briscoe","year":"2025","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"v49","DOI":"10.1093\/rheumatology\/ker396","article-title":"Therapy for the mucopolysaccharidoses","volume":"50","author":"Valayannopoulos","year":"2011","journal-title":"Rheumatology"}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/16\/7\/1009\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T11:56:47Z","timestamp":1774612607000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/16\/7\/1009"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,27]]},"references-count":23,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2026,4]]}},"alternative-id":["diagnostics16071009"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics16071009","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,27]]}}}