Roentgenographic findings in familial dysautonomia.

Familial Dysautonomia is a clinical entity characterized by dysfunction of the nervous system with particular prominence of autonomic disturbances. Excessive perspiration, drooling, transient erythematous blotching of the skin, intermittent hypertension and postural hypotension, inability to produce tears, and inadequate temperature control are expressions of the abnormal autonomic function. Dysfunction in the remainder of the central nervous system is indicated by such symptoms and signs as relative indifference to pain, hyporeflexia, poor motor coordination, and retarded motor development. Other features frequently observed include emotional instability, cyclic vomiting, pulmonary infections, fever of undetermined origin, difficulty in feeding and swallowing, and breathholding spells in infancy. Mental retardation and convulsions are occasionally present. All of these manifestations occur for the most part during infancy and early childhood. Of 80 known patients with dysautonomia, all were of Jewish ext...