Airway changes in children with mucopolysaccharidoses - CT evaluation

Objective: To assess the CT findings of the airway in children with mucopolysaccharidoses (MPS). Material and Methods: The study included 13 patients (9 boys, 4 girls; age range 2-17 years; mean age 9.2 years) with MPS: 6 with Hunter syndrome, 3 with Maroteaux-Lamy syndrome, 2 with Sanfilippo syndrome, 1 with Hurler/Scheie syndrome and 1 with Morquio syndrome. CT of the airways was done in the axial section with 3-mm collimation from the oropharynx at the level of C3 to the base of the lung. The shape of the vocal cords and trachea at the level of T1 was evaluated. The tracheal surface area (TSA) at the level of T1 was measured both in patients and in age-matched subjects. Results: CT showed an abnormality of the vocal cords in 7 of the 13 patients. Six patients had an abnormal shape and 7 had an inhomogenous density. The abnormalities included elliptical (5 of 6) and star-shaped (1 of 6) cords. Eight of 13 tracheas were also abnormal, either U-shaped (6 of 8) or worm-shaped (2 of 8). The TSA was significantly smaller in patients (79.6+/-28.9 mm(2)) than in control subjects (138.1+/-50.1 mm(2)). The TSA of those less than or equal to9 years was 61.4+/-15.2 mm(2) as compared with 99.9+/-23.5 mm(2) for the control group. The TSA of patients greater than or equal to11 years was 107.1+/-25.3 mm(2) as compared with 187.6+/-32.0 mm(2) for the control group. Conclusion: Significant changes in the shape of the vocal cords and trachea in patients with MPS were found. The most common abnormal configuration of trachea was the U-shape. The TSA was smaller in patients with MPS than in controls. The airway changes may be due to abnormal submucosal storage of substances such as keratan or dermatan sulfate.