Pediatric familial dysautonomia syndrome

Introduction to pediatric familial autonomic dysfunction syndrome Familialdysautonomiasyndrome (Riley-Day syndrome), also known as familial autonomic dysfunction, central autonomic dysfunction syndrome. It is considered to be a congenital disease characterized by neurological dysfunction, especially autonomic dysfunction. basic knowledge The proportion of illness: 5% - 8% Susceptible people: children Mode of infection: non-infectious Complications: bradycardia, hypotension, syncope, ataxia

Etiology of pediatric familial autonomic dysfunction syndrome

(1) Causes of the disease

Although the etiology of this disease is unknown, its pathogenesis is obviously familial and is autosomal recessive.

(two) pathogenesis

1. Metabolic abnormalities Some scholars believe that some metabolic abnormalities are closely related to this symptom, as briefly described below.

(1) Abnormal metabolism of catecholamines in the body: The pathogenesis of this disease may be related to abnormal metabolism of catecholamines in the body. Due to the decreased activity of dopamine hydroxylase (DH), the process of converting dopamine into norepinephrine is impaired.

(2) Abnormal acetylcholine metabolism: It has been found that the patient's cornea, iris and lacrimal gland have insufficient acetylcholine converting enzyme (Choline acetyl-transferase), and patients are sensitive to methacholine (methacholine), many choline after administration. Symptoms of neurological dysfunction can be rapidly improved, and it is considered that abnormal metabolism of acetylcholine is an important factor in the onset.

(3) Abnormal metabolism of nerve growth factor subunit (-NGE): experimental studies have found that the activity of nerve growth factor (NGF) in patients is three times that of the control group, and the cultured skin fibroblasts are produced. The nerve growth factor subunit activity is 10% of that in normal humans. When treated with lsoprotenol, there is no increase in -NGF like normal tissue, indicating that the abnormality of -NGF metabolism is related to the molecular biological abnormality corresponding to the genetic defect of this disease. May play a role.

2. Pathological examination In the pathological examination, the peripheral nerve dysplasia of the patient has been found. The results of histochemical examination are in the axons and perivascular plexus, and do not contain norepinephrine.

Pediatric familial autonomic dysfunction syndrome prevention

There is no effective prevention method, and attention should be paid to genetic counseling.

Complications of pediatric familial autonomic dysfunction syndrome Complications, bradycardia, hypotension, syncope, ataxia

There are bradycardia and hypotension, and even syncope, can occur slow development, scoliosis and foot valgus, corneal ulcers, mental retardation, ataxia and so on.

Pediatric familial autonomic dysfunction syndrome symptoms common symptoms abdominal pain ataxia nausea corneal ulcer hyperthermia hypotension bradycardia dysarthria blood pressure fluctuations large syncope

Most cases have symptoms after birth. According to the literature, this disease is more common in Jews. The main clinical manifestations are as follows.

1. There is no tear or only a little tear in tears when crying, and it is difficult for patients to increase the production of tears by various physical and chemical stimuli.

2. Excessive sweating The head and back sweat a lot during excitement or meal, but the palms and soles do not sweat, and the composition of sweat is as usual.

3. Skin erythema is often eaten or emotionally excited, the face, neck, shoulders, upper chest can appear a clear red spot in the transient state, quickly disappear after a meal.

4. Abnormal body temperature can have unexplained fever and a tendency to be infected with high fever.

5. Unstable blood pressure Blood pressure is susceptible to fluctuations due to mild irritation or certain emotional changes.

6. Digestive symptoms often do not suck milk after birth, sometimes difficulty in sucking, after a little older, may have difficulty swallowing, food reflux, periodic nausea and vomiting, spastic abdominal pain.

7. Ventilation function changes Under high carbon dioxide or hypoxia, ventilatory function is reduced and there is bradycardia and hypotension, and even syncope.

8. The external appearance of the body is short, slow development, scoliosis and valgus, corneal ulcers, and clumsy movements.

9. Neuropsychiatric symptoms speak late, dysarthria, slow taste, emotional instability, corneal reflexes disappear, sputum reflexes disappear or disappear, and intelligence is low, ataxia.

Examination of pediatric familial autonomic dysfunction syndrome

Reduction of urinary 3-methoxy-4-hydroxymandelic acid (VMA) and 3-methoxy-4-hydroxyphenylethylene glycol (HMPG), 3-methoxy-4-hydroxyphenylacetic acid (HVA) in urine and cerebrospinal fluid Increased, serum DH activity decreased, intradermal injection of histamine did not cause skin redness, but can cause tearing.

Regular X-ray, B-ultrasound, electrocardiogram, EEG, etc.

Diagnosis and diagnosis of pediatric familial autonomic dysfunction syndrome

According to clinical manifestations, signs and laboratory tests can make a diagnosis.

When there is fever of unknown origin, it is differentiated from infectious diseases; when there are symptoms of digestive tract, it is differentiated from gastroenteritis.

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