Riley-Day syndrome

Alternative Names

Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III (HSAN III)

Causes, incidence, and risk factors

Riley-Day syndrome is passed down through families (inherited). A person must inherit a copy of the defective gene from each parent to develop the condition.

This condition is seen most often in people of Eastern European Jewish ancestry (Ashkenazi Jews). The disease is caused by a change (mutation) of the IKBKAP gene on chromosome 9. It is rare in the general population.

Symptoms

• Breath holding spells (can lose consciousness)
• Constipation
• Decrease in sense of taste
• Diarrhea
• Dry eyes
• Feeding problems
• Inability to feel pain and changes in temperature (can lead to injuries)
• Lack of tears when crying
• Long periods of vomiting
• Poor coordination and unsteady walk
• Poor growth
• Repeated fevers
• Repeated pneumonia
• Seizures
• Skin blotching
• Sweating while eating
• Unusually smooth, pale tongue surface

Symptoms are present at birth and grow worse over time.

Signs and tests

The health care provider will do a physical exam to look for: 

• Absent or decreased deep tendon reflexes
• Lack of a response after receiving a histamine injection (normally redness and swelling would occur)
• Lack of tears with crying
• Low muscle tone (hypotonia ), especially in babies
• Repeated episodes of high blood pressure
• Severe scoliosis
• Tiny pupils after receiving certain eye drops

Blood tests are available to check for the IKBKAP gene.

Treatment

Treatment may include:

• Anticonvulsant therapy for seizures
• Feeding in an upright position and giving textured formula to prevent gastroesophageal reflux
• Measures to prevent low blood pressure when standing (postural hypotension), such as increasing intake of fluid, salt and caffeine, and wearing elastic stockings 
• Medicines to control vomiting
• Medicines to prevent dry eyes
• Physical therapy of the chest
• Protecting against  injury
• Providing enough nutrition and fluids
• Surgery or spinal fusion
• Treating aspiration pneumonia

Expectations (prognosis)

Advances in diagnosis and treatment are increasing the survival rate. A newborn baby with Riley-Day has a 1 in 2 chance of living to age 30.

Complications

The following complications are possible:

• Blotching of the face and torso
• Excessive sweating of the head and torso
• High blood pressure (hypertension) and rapid heart rate (tachycardia)
• Insomnia
• Irritability
• Patchy skin tone on the hands and feet
• Nausea and vomiting
• Severe problems swallowing (dysphagia), drooling
• Worsening of muscle tone

Calling your health care provider

Call your doctor if symptoms change or get worse. A genetic counselor can help teach you about the condition and direct you to support groups in your area.

Prevention

Genetic DNA testing is very accurate for Riley-Day syndrome. It may be used for diagnosing people with the condition or who carry the gene. It can also be used for prenatal diagnosis.

People of Eastern European Jewish background and families with a history of Riley-Day syndrome may wish to seek genetic counseling if they are thinking of having children.

References

Katirji B, Koontz D. Disorders of Peripheral Nerves. In: Daroff RB, Fenichel GM, Jankovic J, Mazziotta JC, eds.Bradley’s Neurology in Clinical Practice. 6th ed. Philadelphia, Pa:Saunders Elsevier; 2012:chap 76.

Klein CJ. The inherited neuropathies. Neurol Clin. 2007;25:173-207.