Riley-Day syndrome is a rare hereditary disease that affects the nervous system, damaging the functioning of the sensory neurons, responsible for reacting to external stimuli, causing insensibility in the child, who does not feel pain, pressure, or temperature of stimuli from the outside.
The carriers of this disease tend to die young, around the age of 30, due to accidents that tend to happen because of the lack of pain.
Symptoms of Riley-Day syndrome
Symptoms of Riley-Day syndrome are present from birth and include:
- Insensitivity to pain;
- Slow growth;
- Inability to produce tears;
- Difficulty eating;
- Prolonged episodes of vomiting;
- Convulsions;
- Sleep disorders;
- Disability in the palate;
- Scoliosis;
- Hypertension.
The symptoms of Riley-Day syndrome tend to get worse over time.
Pictures of Riley-Day syndrome
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 lesions and neurological dysfunctions.
Diagnosis of Riley-Day syndrome
The diagnosis of Riley-Day syndrome is made through 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
The treatment for Riley-Day syndrome is targeted to the symptoms as they appear. Anticonvulsive medications, eye drops to prevent dry eyes, antiemetics to control vomiting, and intense observation of the child are used to protect against infrequent injuries that can lead to death.
Useful link:
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