Riley-Day syndrome

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Chromosomes and DNA

Riley-Day syndrome

Alternative Names:

Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III
Symptoms:

poor growth
feeding difficulties
breath holding
sweating while eating
long episodes of vomiting
lack of response to painful stimuli
seizures
hypotonia, low muscle tone
recurring bouts of fever
recurring bouts of high blood pressure
poor coordination - unsteady gait
an unusually smooth tongue surface
decreased taste
diarrhea/constipation
severe scoliosis
skin blotching

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Infants with this condition have feeding problems and develop pneumonia caused by breathing food into their airways. Vomiting and sweating spells begin as the infant matures. Young children may also have breath-holding spells that produce unconsciousness, since they can hold their breath for long enough to pass out without feeling the discomfort that normal children would.

A hallmark of Riley-Day syndrome is insensitivity to pain. This leads to unnoticed injuries or injuries that might not have occurred had the child sensed discomfort. Children do not feel the normal sensations that generally warn of impending injury, such as drying of the eyes, pressure over pressure points, and chronic rubbing and chaffing. Bone and skin pain, including burns, are also poorly perceived. However, they can feel visceral (internal) pain, like menstrual cramps.

Intelligence is expected to be in the normal range.

Signs and tests:

The diagnosis of Riley-Day syndrome is made through observing the signs and symptoms, and by molecular genetic testing of the IKBKAP gene located on chromosome 9. The detection rate (the number of existing cases that are identified) in the Ashkenazi Jewish population is >99%. Such testing is used for diagnosis, carrier detection, and prenatal diagnosis.

Absence of axon flare response after intradermal histamine injection. (Normally, when histamine is injected just under the skin there will be swelling and redness. If there is a lack of this flair response, the test is positive and indicates Riley-Day syndrome.)
Absent or decreased deep tendon reflexes
Absence of overflow tears with emotional crying
Tiny pupils after administering methacholine or pilocarpine into the eye
Decreased deep tendon reflexes: In 95% of patients with FD, knee jerks cannot be elicited
Parents of Ashkenazi Jewish ancestry

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