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Riley-Day syndrome Causes and Risks:
Riley-Day syndrome is inherited as an autosomal recessive trait that is found predominantly in the European Jewish population (Ashkenazi Jews). Infants with this condition have feeding problems and develop pneumonia caused by inhalation of their formula and food. Episodic vomiting and sweating spells begin following infancy. Young children also have breath-holding spells that produce unconsciousness .
Insensitivity to pain is a hallmark of Riley-Day syndrome and 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.
Seizures may occur in almost 50% of affected children. They have postural hypotension or hypertensive crises. Temperature regulation may be deficient.
Prevention:
Genetic counseling is recommended for prospective parents if there is a family history of Riley-Day syndrome.
Symptoms:
- a family history of Riley-Day syndrome
- feeding difficulties--poor sucking and poor ability to swallow
- breath holding
- sweating while eating
- protracted episodes of vomiting
- lack of response to painful stimuli
- seizures
- hypotonia
Signs and Tests:
- repeat aspiration pneumonia
- cyclic vomiting
- unsteady gait
- delayed puberty
- speech abnormalities
- corneal damage due to lack of tearing and blink reflex
- absent deep tendon reflexes
- insensitivity to pain
- normal intellect
Tests: - X-ray of the chest showing signs of recurrent aspiration pneumonia
- VMA - decreased
- HVA - elevated
- absence of flare response to histamine (normally when histamine is injected just under the skin there will be swelling , if there is a lack of this flair response or swelling the test is positive)
Treatment:
Protection from injury is critical.
Problems are treated as they occur, including treatment of aspiration pneumonia , anticonvulsant therapy if seizures are present, and liquid tears and bethanechol to prevent drying of eyes. Antiemetics may be used to control vomiting
Prognosis:
Most people with this syndrome die in childhood.
Complications:
Call Your Healthcare Provider:
Call your health care provider if you have a family history of Riley-Day syndrome and are planning to have a child or expecting a child. If you are unsure of your family history but belong to a high risk population it may be helpful to consult a genetic counselor.
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