Riley-Day syndrome

Alternative names:

familial dysautonomia

Definition:

An inherited disorder that affects sensory and autonomic function in many organ systems.

Causes, incidence, and risk factors:

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.