Riley-Day syndrome

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A very rare congenital disorder of the autonomic nervous system, occurring almost exclusively in Ashkenazi Jewish children.

Description

A very rare congenital disorder of the autonomic nervous system, occurring almost exclusively in Jewish children of Eastern European descent. Symptoms inability to produce tears, emotional instability, relative indifference to pain and lack of a flare response to skin scratch, corneal ulcers, hypertension, stress, taste deficiency, decreased fungiform and circumvalate papillae, unexplained bouts of fever, urinary frequency, and absent deep tendon reflexes. Condition often manifested in first days of life. Death in first year of life is common and few patients survive beyond adolescence.

We thank Professor Leonid P. Churilov for information submitted.

Bibliography

  • C. M. Riley, R. L. Day, D. M. Greely, W. S. Langford:
    Central autonomic dysfunction with defective lacrimation. I. Report of five cases.
    Pediatrics, Evanston, Illinois, 1949, 3: 468-478.
  • C. M. Riley:
    Familial autonomic dysfunction.
    Journal of the American Medical Association, 1952, 149: 1532-1535.
  • F. Yatsu and W. Zussman:
    Familial dysautonomia (Riley-Day syndrome). Case reports with post-mortem findings of a patient at age 31. Archives of Neurology, Chicago, 1964, 10: 459-463. Yatzu and Zussman introduced the eponymic term "Riley-Day syndrome".

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