Tracheal narrowing in children and adults with mucopolysaccharidosis type IVA: evaluation with computed tomography angiography



Mucopolysaccharidosis type IVA (MPS IVA) is characterized by progressive skeletal dysplasia and respiratory issues with difficult airway management during anesthesia.


To characterize tracheal abnormalities in children and adults with MPS IVA including interplay of the trachea, vasculature, bones and thyroid at the thoracic inlet.

Materials and methods

Computed tomography (CT) angiograms of the chest were analyzed for trachea shape, narrowing and deviation at the thoracic inlet, course of vasculature, bone alignment and thyroid location. The tracheal cross-sectional area was measured at the cervical, thoracic inlet and intrathoracic levels.


Thirty-seven patients (mean age: 18.1 years) were included. The mean tracheal cross-sectional area narrowing at the thoracic inlet was 63.9% (range: −2.1–96%), with a trend for increased tracheal narrowing in older children. The trachea was commonly deviated rightward posterior (22/37, 59%). T- or W-shaped tracheas had two times greater tracheal narrowing than D- or U-shaped tracheas (P<0.05). The brachiocephalic artery was tortuous in 35/37 (95%) with direct impingement on the trachea in 24/37 (65%). No correlation was observed between bony thoracic inlet diameter and tracheal narrowing. The thyroid was located in the thoracic inlet in 28/37 (76%) cases, significantly associated with tracheal narrowing (P=0.016).


Narrowing, deviation and abnormal shape of the trachea at the thoracic inlet are common in children and adults with MPS IVA, with a trend toward increased narrowing with advancing age in children. A W- or T-shaped trachea is associated with focal tracheal narrowing. Crowding of the thoracic inlet, due to vascular tortuosity and thyroid position, appears to play a major role.

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  1. 1.

    Hendriksz CJ, Berger KI, Giugliani R et al (2015) International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet A 167A:11–25

    Article  Google Scholar 

  2. 2.

    Khan S, Alméciga-Díaz CJ, Sawamoto K et al (2017) Mucopolysaccharidosis IVA and glycosaminoglycans. Mol Genet Metab 120:78–95

  3. 3.

    Peracha H, Sawamoto K, Averill L et al (2018) Diagnosis and prognosis of mucopolysaccharidosis IVA. Mol Genet Metab 125:18–37

    CAS  Article  Google Scholar 

  4. 4.

    Yasuda E, Fushimi K, Suzuki Y et al (2013) Pathogenesis of Morquio A syndrome: an autopsied case reveals systemic storage disorder. Mol Genet Metab 109:301–311

    CAS  Article  Google Scholar 

  5. 5.

    Tomatsu S, Montano AM, Oikawa H et al (2011) Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. Curr Pharm Biotechnol 12:931–945

    CAS  Article  Google Scholar 

  6. 6.

    Doherty C, Averill LW, Theroux M et al (2017) Natural history of Morquio A patient with tracheal obstruction from birth to death. Mol Genet Metab Rep 14:59–67

    Article  Google Scholar 

  7. 7.

    Shimada T, Tomatsu S, Mason RW et al (2015) Di-sulfated keratan sulfate as a novel biomarker for mucopolysaccharidosis II, IVA, and IVB. JIMD Rep 21:1–13

    PubMed  PubMed Central  Google Scholar 

  8. 8.

    Shimada T, Tomatsu S, Yasuda E et al (2014) Chondroitin 6-sulfate as a novel biomarker for mucopolysaccharidosis IVA and VII. JIMD Rep 16:15–24

    Article  Google Scholar 

  9. 9.

    Montano AM, Tomatsu S, Gottesman GS et al (2007) International Morquio A registry: clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis 30:165–174

    CAS  Article  Google Scholar 

  10. 10.

    Melbouci M, Mason RW, Suzuki Y et al (2018) Growth impairment in mucopolysaccharidoses. Mol Genet Metab 124:1–10

    CAS  Article  Google Scholar 

  11. 11.

    Theroux MC, Nerker T, Ditro C, Mackenzie WG (2012) Anesthetic care and perioperative complications of children with Morquio syndrome. Pediatr Anesth 22:901–907

    Article  Google Scholar 

  12. 12.

    Ransford AO, Crockard HA, Stevens JM, Modaghegh S (1996) Occipito-atlanto-axial fusion in Morquio-Brailsford syndrome. A ten-year experience. J Bone Joint Surg Br 78:307–313

    CAS  Article  Google Scholar 

  13. 13.

    Pelley CJ, Kwo J, Hess DR (2007) Tracheomalacia in an adult with respiratory failure and Morquio syndrome. Respir Care 52:278–282

    PubMed  Google Scholar 

  14. 14.

    Walker PP, Rose E, Williams JG (2003) Upper airways abnormalities and tracheal problems in Morquio’s disease. Thorax 58:458–459

    CAS  Article  Google Scholar 

  15. 15.

    Shih SL, Lee YJ, Lin SP et al (2002) Airway changes in children with mucopolysaccharidoses. Acta Radiol 43:40–43

    Article  Google Scholar 

  16. 16.

    Morimoto N, Kitamura M, Kosuga M, Okuyama T (2014) CT and endoscopic evaluation of larynx and trachea in mucopolysaccharidoses. Mol Genet Metab 112:154–159

    CAS  Article  Google Scholar 

  17. 17.

    Pizarro C, Davies RR, Theroux M et al (2016) Surgical reconstruction for severe tracheal obstruction in Morquio A syndrome. Ann Thorac Surg 102:e329–e331

    Article  Google Scholar 

  18. 18.

    Tomatsu S, Averill LW, Sawamoto K et al (2016) Obstructive airway in Morquio A syndrome, the past, the present and the future. Mol Genet Metab 117:150–156

    CAS  Article  Google Scholar 

  19. 19.

    MacKenzie CF, McAslan TC, Shin B et al (1978) The shape of the human adult trachea. Anesthesiology 49:48–50

    CAS  Article  Google Scholar 

  20. 20.

    Ulusoy M, Uysal II, Kivrak AS et al (2016) Age and gender-related changes in bronchial tree: a morphometric study with multidetector CT. Eur Rev Med Pharmacol Sci 20:3351–3357

    CAS  PubMed  Google Scholar 

  21. 21.

    Kuo W, Ciet P, Andrinopoulou E-R et al (2018) Reference values for central airway dimensions on CT images of children and adolescents. AJR Am J Roentgenol 210:423–430

    Article  Google Scholar 

  22. 22.

    Szelloe P, Weiss M, Schraner T, Dave MH (2017) Lower airway dimensions in pediatric patients: a computed tomography study. Paediatr Anaesth 27:1043–1049

    Article  Google Scholar 

  23. 23.

    Fawcett SL, Gomez AC, Hughes JA, Set P (2010) Anatomical variation in the position of the brachiocephalic trunk (innominate artery) with respect to the trachea: a computed tomography-based study and literature review of innominate artery compression syndrome. Clin Anat 23:61–69

    CAS  PubMed  Google Scholar 

  24. 24.

    Powell AW, Taylor MD, Burrow TA et al (2017) Widespread vasculopathy in a patient with Morquio A syndrome. Tex Heart Inst J 44:420–423

    Article  Google Scholar 

  25. 25.

    Kampmann C, Wiethoff CM, Huth RG et al (2017) Management of life-threatening tracheal stenosis and tracheomalacia in patients with mucopolysaccharidoses. JIMD Rep 33:33–39

  26. 26.

    Nagano R, Takizawa S, Hayama N et al (2007) Three-dimensional CT and histopathological findings of airway malacia in Hunter syndrome. Tokai J Exp Clin Med 32:59–61

    PubMed  Google Scholar 

  27. 27.

    Rutten M, Ciet P, van den Biggelaar R et al (2016) Severe tracheal and bronchial collapse in adults with type II mucopolysaccharidosis. Orphanet J Rare Dis 11:50

    CAS  Article  Google Scholar 

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Correspondence to Lauren W. Averill.

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Conflicts of interest

Dr. Mackenzie has received a grant from Biomarin and is on the Little People of America Medical Advisory Board. Dr. Bober is a consultant and site primary investigator for Biomarin.

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Averill, L.W., Kecskemethy, H.H., Theroux, M.C. et al. Tracheal narrowing in children and adults with mucopolysaccharidosis type IVA: evaluation with computed tomography angiography. Pediatr Radiol (2021).

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  • Adults
  • Children
  • Computed tomography
  • Morquio syndrome
  • Mucopolysaccharidosis
  • Trachea