MPS I – Respiratory System

Chronic rhinitis and rhinorrhea without obvious infectious etiology are common features of MPS I. Storage within the oro-pharynx with associated enlargement of the tongue, tonsils, and adenoids can lead to significant upper airway complications.^{[1, 2]} In addition, a narrowed trachea, thickened vocal cords, and redundant tissue in the upper airway may contribute to airway obstruction and can result in sleep apnea.^{[3, 4, 5]}

Lung volumes are often reduced because of the small thorax and hepatosplenomegaly limiting excursion of the diaphragm. Recurrent respiratory infections are common, and respiratory insufficiency is a major cause of mortality.

References

1. Clarke, L.A. (1997) Clinical diagnosis of lysosomal storage diseases. In: Organelle Diseases. Clinical Features, Diagnosis, Pathogenesis and Management. Applegarth, D.A., Dimmick, J.E., and Hall, J.G. (eds.). Chapman and Hall Medical, London, pp. 37.

2. Neufeld, E.F., and Muenzer, J. (2001) The mucopolysaccharidoses. In: The Metabolic and Molecular Bases of Inherited Disease. Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D., Childs, B., Kinzler, K.W., and Vogelstein, B. (eds.). 8th edition, Vol. III. McGraw-Hill, Medical Publishing Division, pp. 3421.

3. Myer, C.M.D. (1991) Airway obstruction in Hurler's syndrome - Radiographic features. Int J Pediatr Otorhinolaryngol 22: 91.

4. Peters, M.E., Arya, S., Langer, L.O., Gilbert, E.F., Carlson, R., and Adkins, W. (1985) Narrow trachea in mucopolysaccharidoses. Pediatr Radiol 15: 225.

5. Shapiro, J., Strome, M., and Crocker, A.C. (1985) Airway obstruction and sleep apnea in Hurler and Hunter syndromes. Ann Otol Rhinol Laryngol 94: 458.