Tracheal Resection for Critical Airway Obstruction in Morquio A Syndrome

Claire Frauenfelder; Elizabeth Maughan; Johnny Kenth; Reema Nandi; Simon Jones; Robert Walker; Bill Walsh; Nagarajan Muthialu; Iain Bruce; Richard Hewitt; Colin Butler

doi:10.1155/2023/7976780

Tracheal Resection for Critical Airway Obstruction in Morquio A Syndrome

Case Rep Pediatr. 2023 May 3:2023:7976780. doi: 10.1155/2023/7976780. eCollection 2023.

Authors

Claire Frauenfelder^{1

2}, Elizabeth Maughan^{1

3}, Johnny Kenth^{4

5}, Reema Nandi¹, Simon Jones⁶, Robert Walker⁴, Bill Walsh¹, Nagarajan Muthialu^{1

3}, Iain Bruce^{5

7

8}, Richard Hewitt^{1

3}, Colin Butler^{1

3}

Affiliations

¹ Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
² University of Adelaide, Adelaide, Australia.
³ UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital for Children, London, UK.
⁴ Department of Paediatric Anaesthesia, Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
⁵ The University of Manchester, The Faculty of Biology, Medicine and Health, Manchester, UK.
⁶ The Willink Metabolic Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
⁷ Paediatric ENT Department, Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
⁸ Divisions of Infection, Immunity and Respiratory Medicine, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

Abstract

Introduction: The primary cause of death in Morquio A syndrome (mucopolysaccharidosis (MPS) IVA) is airway obstruction, brought about by an inexorable and pathognomonic multilevel airway tortuosity, buckling, and obstruction. The relative pathophysiological contributions of an inherent cartilage processing defect versus a mismatch in longitudinal growth between the trachea and the thoracic cage are currently a subject of debate. Enzyme replacement therapy (ERT) and multidisciplinary management continue to improve life expectancy for Morquio A patients by slowing many of the multisystem pathological consequences of the disease but are not as effective at reversing established pathology. An urgent need has developed to consider alternatives to palliation of progressive tracheal obstruction to preserve and maintain these patients' hard-won good quality of life, as well as to facilitate spinal and other required surgery. Case Report. Following multidisciplinary discussion, transcervical tracheal resection with limited manubriectomy was successfully performed, without the need for cardiopulmonary bypass, in an adolescent male on ERT with the severe airway manifestations of Morquio A syndrome. His trachea was found to be under significant compressive forces at surgery. On histology, chondrocyte lacunae appeared enlarged, but intracellular lysosomal staining and extracellular glycosaminoglycan staining was comparable to control trachea. At 12 months, this has resulted in a significant improvement in respiratory and functional status, with corresponding enhancement to his quality of life.

Conclusion: This addressing of tracheal/thoracic cage dimension mismatch represents a novel surgical treatment approach to an existing clinical paradigm and may be useful for other carefully selected individuals with MPS IVA. Further work is needed to better understand the role and optimal timing of tracheal resection within this patient cohort so as to individually balance considerable surgical and anaesthetic risks against the potential symptomatic and life expectancy benefits.

Publication types

Case Reports