ABSTRACT
This chapter describes some of those conditions which illustrate a particular mechanism of disturbance of pulmonary physiology or function. A number of sensory abnormalities have been identified in this disease and this section dwells on the abnormal control of ventilation. Familial dysautonomia, also known as Riley-Day syndrome, is an inherited constellation of abnormalities, most of which suggest dysfunction of the nervous system, especially the autonomic system. Other well-defined pulmonary abnormalities associated with dysautonomia include the sequelae of scoliosis, and recurrent infection which is probably exacerbated by chronic aspiration secondary to abnormal swallowing. Clinical observations suggested that control of ventilation may be abnormal in dysautonomia. Infants with this disease learned to manipulate their parents by refusing to breathe until they were frankly blue or got what they wanted. With regard to pulmonary physiology, the experiments of Edelman et al. point to hypotension, resulting from abnormal autonomic function, as the mechanism of the severe effects of hypoxia.
