Riley-Day Syndrome
Riley-Day Syndrome Causes
Riley-Day syndrome develops as a consequence of mutations in the IKBKAP gene on chromosome 9.
Riley-Day Syndrome Definition
Riley-Day syndrome, more commonly known as familiar dysautonomia (FD), is characterized by a disorder of the autonomic nervous system. Riley-Day syndrome commonly affects the survival and development of sympathetic, (some) parasympathetic, and sensory neurons of the autonomic and sensory nervous system.
Riley-Day Syndrome Diagnosis
Riley-Day syndrome may be diagnosed based on the following criteria: parents of Ashkenazi Jewish background, absence of fungi-form papillae in the tongue, decreased deep tendon reflexes, lack of axon flare after intradermal histamine, and no overflow of tears with emotional crying. In addition, genetic testing and/or prenatal testing can provide some insight.
Riley-Day Syndrome Symptoms and Signs
Patients with Riley-Day syndrome may lose their sensitivity to pain and ability to produce tears, as well as suffer from poor growth, episodic/postural hypertension, pneumonia, vomiting, speech impediments, movement disruptions, and difficulty swallowing, among others. Affected patients may also experience inappropriate perception of taste, pain, and heat, along with unstable blood pressure and gastrointestinal dysmolity. In affected infants, the most distinctive symptom is the absence of tears with emotional crying after 7 months old. In addition, there may be a high incidence of breech presentation, absence of suck and poor tone, misdirected swallowing, and red blotches in the skin. In older children, hallmark signs include delayed speech and walking ability, unsteady gait, corneal abrasion, spinal curvature, decreased pain and heat perception, growth and development defects, unstable blood pressure, reddish puffy hands, and persistence of dysautonomia crisis. The latter pertains to a range of symptoms in response to physical and emotional distress, which may include increased heart rate, high blood pressure, vomiting, sweating, drooling, skin blotching, and adverse personality changes.
Riley-Day Syndrome Treatment
To date, Riley-Day syndrome has no known cure. Approximately fifty percent of afflicted individuals die by the age of 30. Most treatment modes for Riley-Day patients focus on controlling and managing symptoms. In specialized Riley-Day syndrome treatment centers, therapy is mostly symptomatic, preventative, and supportive. Because each patient experiences a variety of symptoms, the treatment plan must be tailored to each individual patient, depending on the severity of the symptoms. Typically, appropriate medications are used to control eye dryness, vomiting, and blood pressure. In addition, feeding is imperative to maintain adequate nutrition. Daily chest physiotherapy may be done to manage chronic lung disease. Protecting patients (especially children) from injury is another integral component of treatment. In addition, special drug management and constant medical care are crucial in controlling other manifestations.