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Riley-Day syndrome

  • Definition
    • Riley-Day syndrome is an inherited disorder that affects nerves throughout the body.

  • Alternative Names
    • Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III (HSAN III)

  • Causes
    • Riley-Day syndrome is passed down through families (inherited). A person must inherit a copy of the defective gene from each parent to develop the condition.

      This condition occurs most often in people of Eastern European Jewish ancestry (Ashkenazi Jews). It is caused by a change (mutation) to a gene. It is rare in the general population.

  • Symptoms
    • Symptoms of Riley-Day syndrome include:

      • Breath-holding spells (can lose consciousness)
      • Constipation
      • Decrease in sense of taste
      • Diarrhea
      • Dry eyes
      • Feeding problems
      • Inability to feel pain and changes in temperature (can lead to injuries)
      • Lack of tears when crying
      • Long periods of vomiting
      • Poor coordination and unsteady walk
      • Poor growth
      • Repeated fevers
      • Repeated pneumonia
      • Seizures
      • Skin blotching
      • Sweating while eating
      • Unusually smooth, pale tongue surface

      Symptoms are present at birth and grow worse over time.

  • Exams and Tests
    • Your health care provider will do a physical exam to look for:

      • Absent or decreased deep tendon reflexes
      • Lack of a response after receiving a histamine injection (normally redness and swelling would occur)
      • Lack of tears with crying
      • Low muscle tone, especially in babies
      • Repeated episodes of high blood pressure
      • Severe curving of the spine (scoliosis)
      • Tiny pupils after receiving certain eye drops

      Blood tests are available to check for the gene mutation that causes Riley-Day syndrome.

  • Treatment
    • Treatment may include:

      • Therapy to help prevent seizures
      • Feeding in an upright position and giving textured formula to prevent gastroesophageal reflux (stomach acid and food coming back up, also called GERD)
      • Measures to prevent low blood pressure when standing, such as increasing intake of fluid, salt, and caffeine, and wearing elastic stockings
      • Medicines to control vomiting
      • Medicines to prevent dry eyes
      • Physical therapy of the chest
      • Measures to protect against injury
      • Providing enough nutrition and fluids
      • Surgery or spinal fusion
      • Treating aspiration pneumonia
  • Outlook (Prognosis)
    • Advances in diagnosis and treatment are increasing the survival rate. About half of babies born with Riley-Day will live to age 30.

  • Possible Complications
    • The following complications are possible:

      • Blotching of the face and torso
      • Excessive sweating of the head and torso
      • High blood pressure and rapid heart rate
      • Insomnia
      • Irritability
      • Patchy skin tone on the hands and feet
      • Nausea and vomiting
      • Severe problems swallowing, drooling
      • Worsening of muscle tone
  • When to Contact a Medical Professional
    • Call your doctor if symptoms change or get worse. A genetic counselor can help teach you about the condition and direct you to support groups in your area.

  • Prevention
    • Genetic DNA testing is very accurate for Riley-Day syndrome. It may be used for diagnosing people with the condition or those who carry the gene. It can also be used for prenatal diagnosis.

      People of Eastern European Jewish background and families with a history of Riley-Day syndrome may wish to seek genetic counseling if they are thinking of having children.

  • References
    • Katirji B, Koontz D. Disorders of peripheral nerves. In: Daroff RB, Fenichel GM, Jankovic J, Mazziotta JC, eds. Bradley's Neurology in Clinical Practice. 6th ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 76.

      Klein CJ. The inherited neuropathies. Neurol Clin. 2007;25:173-207. PMID: 17324725

      Siegel DH, Martin KL, Hand JL. Selected hereditary diseases. In: Eichenfield LF, Frieden IJ, Mathes EF, Zaenglein AL, eds. In: Eichenfield: Neonatal and Infant Dermatology. 3rd ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 29.