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May 1964

Familial Dysautonomia (Riley-Day Syndrome): Case Report With Postmortem Findings of a Patient at Age 31

Author Affiliations

Departments of neurology and pathology, Columbia Presbyterian Medical Center.

Arch Neurol. 1964;10(5):459-463. doi:10.1001/archneur.1964.00460170029004

Since the initial description by Riley and Day in 1949, there have been over 100 cases of familial dysautonomia reported. The diverse clinical findings, listed in the Table, are generally considered to be manifestations of a disturbance of autonomic functions. The disease is hereditary, is found primarily in Jewish children, and is transmitted as an autosomal recessive. Another feature is relatively early death, usually occurring in infancy or childhood, although a few patients have lived beyond adolescence.1,2 It is the purpose of this report to record the clinical and the autopsy findings in the oldest known case of familial dysautonomia.

Report of Case  The patient was first admitted to the Columbia-Presbyterian Medical Center in 1938 at age 61/2 years and was followed until her death in 1962 at age 31. During this period she was hospitalized five times for recurrent episodes of vomiting and long-standing acrocyanosis. The diagnosis of