Peripheral Nerve Abnormalities in the Riley-Day Syndrome

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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. Report of a Case 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