Peripheral Nerve Abnormalities in the Riley-Day Syndrome

Abstract

FAMILIAL dysautonomia (Riley-Day syndrome) is a rare disorder characterized by emotional lability, insensitivity to pain, absence of tears, postural hypotension, hypoactive corneal and tendon reflexes, absence of fungiform papillae on the tongue, and a history of neurologic abnormality from birth. Although many features of this syndrome suggest a disorder of peripheral nerve function, no consistent abnormalities have been described.¹Therefore, the purpose of this communication is to report the results of electrophysiologic, ultrastructural, and quantitative histologic studies of peripheral nerve in a patient with the Riley-Day syndrome. <h3>Report of a Case</h3> The patient, a 21-year-old man of Jewish extraction, was noted to be limp and listless at birth. Feeding problems were present from the first weeks of life. By the age of 3 years, he had been hospitalized 13 times for recurrent chest infections, corneal ulcerations, hyperpyrexia of unknown etiology, hypotensive episodes, vomiting leading to dehydration and, on one