Riley-Day syndrome is a rare inherited disease that affects the nervous system, altering the functioning of sensory neurons, responsible for reacting to external stimuli, causing insensitivity in children, who do not feel the pain, pressure or temperature of external stimuli.
People with this disease tend to die young, around 30 years of age, due to accidents that usually occur due to lack of pain.
The symptoms of Riley-Day syndrome have been present since birth and include:
Symptoms of Riley-Day syndrome tend to get worse over time
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.
Riley-Day syndrome is diagnosed by physical examinations 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 targets symptoms as they appear. Anticonvulsant medications, eye drops are used to prevent dry eyes, antiemetics to control vomiting, and intense observation of the child to protect him from injuries that can become complicated and cause death.