What is Riley-Day Syndrome?

An inherited disorder that affects the nerves in the body's development and function is called Riley-Day syndrome. It is passed down through generations and is a recessive trait, meaning each parent must be carriers of the condition to affect the child. It is more common in Eastern European Jewish ancestry, occurring nearly 1 in 3,700. There is a mutation in the IKBKAP gene on the 9th chromosome.

Symptoms

Signs are present at birth and will get worse over time. Some symptoms include unusually pale smooth tongue, skin blotching, sweating while eating, seizures, constipation, diarrhea, decreased taste, and breath holding spells. Other signs can include dry eyes, feeding difficulties, repeated pneumonia, poor growth, repeated fevers, poor coordination, long vomiting episodes, lack of tears when crying, and the inability to feel a change in temperature or pain.

Diagnosis

Blood tests can check for the IKBKAP gene. Also, a physical exam can show tiny pupil after getting certain eyedrops, repeated episodes of high blood pressure, severe scoliosis, low muscle tone, lack of tears when crying, decreased or absent deep tendon reflexes, and lack of response when getting a histamine injection.

Treatment

Things that may be done to help the patient include surgery, spinal fusion, treatment of aspiration pneumonia, anticonvulsive therapy, feeding in upright position, increased fluid and salt intake, increased caffeine, elastic stockings for low blood pressure, antiemetics, liquid tears, chest physical therapy, more nutrients and fluids, and protecting them from injuries.

Complications

For about 40 percent of those with Riley-Day syndrome, there can be irritability, mottling of the feet and hands, vomiting/nausea, drooling and trouble swallowing, worsening of muscle tone, insomnia, high blood pressure, rapid heart rate, blotching of torso and face, and excessive sweating of torso and head.

Source: A.D.A.M.