Riley-Day syndrome
Introduction
Introduction to Riley-Dai syndrome Riley-Dais syndrome, also known as familialdysautonomia, is a rare familial autosomal recessive disorder first reported by Riley and Day (1949), mainly in the Eastern European Jewish family and others. Ethnic children, patients with close relatives in the gene carrier about 1 / 50. The clinical features are rich and varied autonomic dysfunction, such as no tears, abnormal sweating, skin erythema, difficulty swallowing, occasional high fever and loss of tongue-like papilla. basic knowledge Sickness ratio: 0.0001% Susceptible people: no special people Mode of infection: non-infectious Complications: aspiration pneumonia dehydration
Cause
The cause of Riley-Dai syndrome
Causes:
The cause of Riley-Dai syndrome is still not fully understood. In recent years, the disease has been found to be autosomal recessive hereditary peripheral neuropathy. All patients have two replication gene defects, and the disease-causing gene is located on chromosome 9. Short arm 31 to 33 area.
Pathogenesis
The disease is a congenital anomaly of the autonomic nervous system. The neurons in the sensory ganglia, sympathetic ganglia and parasympathetic ganglia are significantly reduced. These neurons are continuously lost during the lifetime of the patient. The number of sympathetic nerve endings is reduced in the patient's blood circulation. The reason for norepinephrine, dopamine, and -hydroxylase is less, because the sympathetic innervation of peripheral tissues is reduced, and the adrenal receptor is allergic, so that the release of catecholamine from the adrenal medulla can cause excessive stress, although some symptoms suggest The central nervous system, but no similar lesions in the central nervous system, the intelligence is in the normal range.
Studies have also shown that norepinephrine in the urine, adrenaline metabolite vanillyl mandelic acid (VMA), high vanillic acid (HVA) increased, may also be due to abnormal catecholamine metabolism in the child, norepinephrine The hormone and its derivatives are caused by obstacles.
The pathological changes of the disease are mainly sympathetic dysplasia of the cervical sympathetic ganglia, and the number and volume of neurons are reduced, mainly in the dorsal medial nucleus of the thalamus, the gray matter cells of the cervical and thoracic medulla, the dorsal root ganglia and the sympathetic ganglia. Changes, pre-eclampsia neurons, brainstem reticular degeneration, sphenopalatine ganglia, ciliary ganglion neuronal abnormalities; in addition, spinal dorsal column, dorsal root, ridge bundles, etc. have demyelination changes, a few findings The sympathetic ganglia of the spinal cord has pigmentation.
Prevention
Riley-Daily Syndrome Prevention
Difficulties in the treatment of genetic diseases, unsatisfactory results, prevention is more important, preventive measures include avoiding close relatives marriage, implementation of genetic counseling, carrier genetic testing and prenatal diagnosis and selective abortion to prevent the birth of children.
Complication
Riley-Dyner syndrome complications Complications aspiration pneumonia dehydration
There may be high fever of unknown cause, or complicated aspiration pneumonia, emotional instability, occasional vomiting, dehydration and gastrointestinal symptoms, etc., about 40% of patients may have seizures.
Symptom
Riley-Daily Syndrome Symptoms Common Symptoms Oral Ulcers Speaking with Nasal Corneal Ulcer Hypertension Tickling Low Blood Pressure Diarrhea Rogue Tears
1. The disease is mostly loss of consciousness and sympathetic dysfunction after birth, intelligence is normal or low, progress is slow, children have no gender differences, slow growth in infancy, often accompanied by paroxysmal vomiting, diarrhea or constipation, tendon, Motor dysfunction, ataxia, Charcot pathological joints and oral ulcers.
2. The child is born with a lower body weight than the normal baby, the crying is small and short, the sucking power is weak, the swallowing function is poor, and it is easy to suffer from aspiration pneumonia. When crying, there is little tear or no tear is the main feature of the disease. Low tension, reduced or absent sputum reflex, abnormal pupil regulation, corneal reflex, dry conjunctiva, no tears, smooth tongue, missing tongue-shaped nipple, extensive pain, mild hypothermia, no pain stimulation Reaction, visible skin erythema, limb hair blemishes, abnormal sweating, runny or lack of saliva, taste disorders, and seizures.
3. In childhood, autonomic nervous crisis can occur, which is characterized by emotional instability, irritability, autism, decreased behavior, variable body temperature, unstable heart rate and respiratory rate, and vascular dyskinesia is one of the characteristics of this disease. If blood pressure fluctuations are unstable, upright hypotension and paroxysmal hypertension often occur.
4. School-age children are short stature, gait is unstable, talking with nasal sounds (consonant dysfunction), scoliosis, puberty vomiting is relieved, but poor mutual movement, often showing urination or swallowing syncope, emotion Unstable, can not participate in sports activities, about 40% of patients may have seizures, accompanied by fever and lack of oxygen.
5. Children often suffer from pneumonia, other causes of death are sudden cardiac death and sudden cardiac arrest. Careful and considerate care for patients can survive to 30 to 40 years old, and patients can also have normal babies.
Examine
Riley-Dai syndrome
1. Blood and cerebrospinal fluid examination is not specific.
2. Genetic testing can reveal genetic defects.
3. Children with intradermal injection of histamine often have no pain and blush reaction.
4. With 2.5% methacholine (acetylcholine), pilocarpine droplets can cause small sputum, while the norepinephrine liquid pupil reaction is normal, can help diagnose.
5. EEG often shows abnormalities; brainstem auditory evoked potentials also show abnormalities.
Diagnosis
Diagnostic identification of Riley-Dai syndrome
Diagnostic criteria
Patients often have a characteristic face-like apricot-shaped oblique apricot-shaped eyes, ears and chin protruding, children can not cry when crying, limbs often have acral cyanosis, temporary erythema of varying depths occur in the trunk, muscles Inconsistent activity, abdominal distension, angulation posture, one of the characteristics of the scalp that feels uncontrollable when tapping the head, corneal pain is reduced, relatively insensitive to pain, 50% of patients have painless cornea Ulcers, familial autonomy, motor nerves and autologous sensory deficits can be diagnosed.
Differential diagnosis
Acute autonomic neuropathy
Acute onset, clinical manifestations of blurred vision, pupillary light and regulation response abnormalities, less sweating, no tears, orthostatic hypotension, urinary retention, etc., most cases gradually spontaneous recovery after weeks or months.
2. Sjögren syndrome
The main features are tearing, saliva, sweat gland and gastric juice secretion are often defective, often accompanied by keratoconjunctivitis, rhinitis, pharyngitis, parotid edema, and peripheral cranial nerve palsy.
