Respiratory complications of mucopolysaccharide storage disorders

Medicine (Baltimore). 1988 Jul;67(4):209-19. doi: 10.1097/00005792-198807000-00002.

Abstract

Twenty-one patients with the diagnosis of mucopolysaccharidosis or mucolipidosis and a history of respiratory complaints or thorough respiratory evaluation were studied retrospectively. Anatomic factors affecting respiratory status included: (i) upper airway narrowing by hypertrophied tongue, tonsils, adenoids, and mucous membranes; (ii) lower airway narrowing by glycosaminoglycan deposition within the tracheobronchial mucosa; (iii) decreased thoracic dimensions due to scoliosis and thoracic hyperkyphosis; and (iv) decreased abdominal dimensions due to lumbar hyperlordosis, gibbus formation and hepatosplenomegaly. Cardiac and neurologic involvement, while present, did not play primary roles in the development of respiratory disease. The functional consequences of these findings included increased risk of developing: (i) respiratory tract infections; (ii) airway compromise during or after anesthesia or sedation; (iii) dyspnea on exertion; (iv) obstructive lung disease; (v) obstructive sleep apnea; and (vi) cor pulmonale. A management approach is presented which can reduce the morbidity and mortality experienced by these patients.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Airway Obstruction / etiology
  • Anesthesia, General / adverse effects
  • Cardiovascular Diseases / etiology
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Intubation, Intratracheal / adverse effects
  • Lung Diseases / etiology
  • Lung Diseases / physiopathology
  • Male
  • Mucopolysaccharidoses / complications*
  • Mucopolysaccharidoses / mortality
  • Mucopolysaccharidoses / physiopathology
  • Radiography
  • Respiratory Tract Diseases / diagnostic imaging
  • Respiratory Tract Diseases / etiology*
  • Respiratory Tract Diseases / physiopathology
  • Retrospective Studies
  • Sleep Apnea Syndromes / etiology
  • Spinal Diseases / diagnostic imaging
  • Spinal Diseases / etiology