Causes, mechanisms of development, clinical picture and treatment of the disease.
Family dysautonomy, or Riley syndrome - Dey, is a rare hereditary disease that manifests itself as a disturbance in the functioning of internal organs due to a disorder in their nervous regulation.
The disease is most commonly found among the Jewish population, with a frequency of approximately 1:50. Girls and boys suffer from this disease equally.
Causes and mechanisms of family disunity
The causes of the disease and the mechanisms of its development are unknown. It is supposed that it is based on metabolic disorders, namely norepinephrine, the main substance that transmits impulses in the nervous system.
Researchers working in this field find damage to the nerve fibers of both the peripheral and central nervous system.
The disease usually begins in childhood. Suspect a syndrome of family dysfunction can help with the following symptoms:
- Difficulties in feeding a child (violation of the swallowing process);
- Increased sweating;
- Violation of thermoregulation, which is manifested by frequent increases in body temperature;
- Absence of tears during crying and generally reduced tears production;
- Reduction of reflexes of newborns, decrease or absence of tendon reflexes;
- Emotional lability;
- Violation of coordination of movements;
- Failure to articulate speech;
- Increased threshold of pain sensitivity or complete pain insensitivity;
- Lowered muscle tone;
- Frequent infectious diseases (especially bronchopneumonia);
- Periodically repeated severe vomiting;
- Slow growth and development;
- Disturbance of innervation and nutrition of the extremities of the extremities, which are manifested by their cooling, blue coloration of the skin, rashes or spots;
- Reduced ability to distinguish the taste of food (lack or defective part of the taste buds);
- Reduced ability to distinguish smells;
- Respiratory failure (apnea);
- Arterial hypertension (rarely);
- Mental disorder, mental retardation;
- In older children, scoliosis and polyneuropathy are added.
Complications may be associated with an increased pain threshold (for example, passing around the mouth, injury), violations of normal functioning of the gastrointestinal tract - swallowing disorders often lead to aspirational pneumonia. Severe vomiting sometimes leads to bleeding from the gastrointestinal tract and even rupture of the stomach.
Diagnosis is confirmed by a special histamine test. In ordinary humans, intradermal administration of 0.03 ml of histamine causes the formation of a red spot in the size from 1 to 3 cm. While the administration of histamine to a person with Riley syndrome, Dey does not cause any reaction or leads to the appearance of only a thin pink contour.
In addition, the characteristic feature of the syndrome is that around scratching in people who suffer from family dysfunction there is no common in such cases of redness.
Differential diagnosis is performed by the syndrome of insensitivity to pain, as well as with immunodeficiency states.
There is no specific treatment, symptomatic treatment is aimed at compensating for disturbed functions.