Riley-day syndrome

Riley-Day Syndrome is a rare hereditary disease that affects the nervous system, impairing the functioning of sensory neurons, responsible for reacting to external stimuli, causing insensitivity in the child, who does not feel pain, pressure, or temperature from outside stimuli.

People with this disease tend to die young, close to 30 years of age, due to accidents that tend to happen because of the lack of pain.

Symptoms of Riley-Day syndrome

Symptoms of Riley-Day syndrome have been present since birth and include:

Insensitivity to pain; Slow growth; Inability to produce tears; Difficulty eating; Prolonged episodes of vomiting; Convulsions; Sleep disorders; Deficiency in taste; Scoliosis; Hypertension.

Symptoms of Riley-Day syndrome tend to get worse over time.

Pictures of Riley-Day syndrome

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Cause of Riley-Day syndrome

The cause of Riley-Day syndrome is related to a genetic mutation, however, it is not known how the genetic mutation causes neurological damage and dysfunction.

Diagnosis of Riley-Day syndrome

The diagnosis of Riley-Day syndrome is made through physical exams that demonstrate the patient's lack of reflexes and insensitivity to any stimulus, such as heat, cold, pain and pressure.

Treatment for Riley-Day syndrome

Treatment for Riley-Day syndrome is directed at symptoms as they appear. Anticonvulsant medications, eye drops are used to prevent dryness of the eyes, antiemetics to control vomiting and intense observation of the child to protect him from injuries that can become complicated and lead to death.