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Riley-Day syndrome - Symptom

Alternative Names

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

Symptoms:

Breath holding spells (can lose consciousness)
Constipation
Decreased taste
Diarrhea
Dry eyes
Feeding difficulties
Inability to feel pain and changes in temperature (can lead to injuries)
Lack of tears when emotional crying
Long episodes of vomiting
Poor coordination - 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.

Signs and tests:

The health care provider will perform a physical exam. The patient may have:

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 emotional crying
Low muscle tone (hypotonia), especially in babies
Repeated episodes of high blood pressure
Severe scoliosis
Tiny pupils after receiving certain eye drops

Blood tests are available to check for the IKBKAP gene. The detection rate in the Ashkenazi Jewish population is greater than 99%.

Chromosomes and DNA

Reviewed last on: 10/10/2010
Linda J. Vorvick, MD, Medical Director, MEDEX Northwest Division of Physician Assistant Studies, University of Washington School of Medicine. Also reviewed by Kevin Berman, MD, PhD, Atlanta Center for Dermatologic Disease, Atlanta, GA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Harati Y, Bosch EP. Disorders of peripheral nerves. In: Bradley WG, Daroff RB, Fenichel G, Jankovic J, eds. Neurology in Clinical Practice. 5th ed. Philadelphia, Pa: Butterworth-Heinemann Elsevier; 2008:chap 80.

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

Autosomal recessive

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