Pediatric wrinkled belly syndrome

Introduction to pediatric wrinkle plum syndrome Prune-bellysyndrome (prune-bellysyndrome) is congenital abdominal muscle deficiency syndrome, also known as Obrinsky syndrome, Froelich syndrome, plum dry abdominal syndrome, abdominal red syndrome. Refers to the patient's partial or total abdominal muscles are severely underdeveloped or completely absent, may be associated with huge renal cysts, giant ureter, renal hypoplasia, cryptorchidism and so on. Because of the three major symptoms of abdominal muscle deficiency, urinary tract malformation and cryptorchidism, it is also called "triple syndrome". basic knowledge Sickness ratio: 0.05% Susceptible people: children Mode of infection: non-infectious Complications: urinary tract infection, hydronephrosis

The cause of pediatric wrinkle plum abdomen syndrome

(1) Causes of the disease

The etiology of the disease is unknown. It may be caused by the termination of mesoderm and urinary muscle development at the 6-10th week of the embryo or due to the mechanical swelling of the abdominal wall due to the presence of the giant bladder. The bladder is filled with the entire pelvis and pushes the testicle upward. After the formation of cryptorchidism. It is also believed that prostate dysplasia and fetal ascites are the main factors causing the disease.

(two) pathogenesis

It is inconclusive whether the cause of abdominal muscle loss is due to an obstacle to muscle development or a certain lesion in the uterus that affects the muscle or its nerve supply. In live births, the incidence rate is about 1/40000, mostly distributed, and the ratio of male to female is 20:1.

Prevention of pediatric wrinkle plum belly syndrome

1, the cause is still unclear, with reference to the prevention of congenital diseases, preventive measures should be from pre-pregnancy to prenatal.

2, premarital physical examination plays a positive role in the prevention of birth defects, the size of the effect depends on the inspection items and content, mainly including serological tests (such as hepatitis B virus, Treponema pallidum, HIV), reproductive system examination (such as screening for cervical inflammation) ), general physical examination (such as blood pressure, electrocardiogram) and asking about the family history of the disease, personal medical history, etc., do a good job in genetic disease counseling.

3, pregnant women to avoid harmful factors, including away from smoke, alcohol, drugs, radiation, pesticides, noise, volatile harmful gases, toxic and harmful heavy metals, etc., in the process of antenatal care during pregnancy need to systematically screen birth defects Including regular ultrasound examination, serological screening, etc., if necessary, a chromosome examination.

4. Once abnormal results occur, it is necessary to determine whether to terminate the pregnancy; the safety of the fetus in the uterus; whether there is sequelae after birth, whether it can be treated, how to prognose, etc., and take practical measures for diagnosis and treatment.

Complications of pediatric wrinkle plum syndrome Complications, urinary tract infection, hydronephrosis

Urinary dysfunction and repeated urinary tract infections, and renal insufficiency. May be associated with other congenital defects, such as congenital gastrointestinal malformations, heart, central nervous system, limb skeletal deformities. Often died of lung hypoplasia, respiratory distress or complete urinary tract obstruction, renal dysplasia is heavier. Growth is stagnant. There are often respiratory infections: coughing is weak, abdominal pressure is insufficient when coughing, and respiratory infections are common. Lung dysplasia is a malformation often associated with congenital abdominal dysplasia. Due to dysplasia of the abdominal muscles, bladder expansion, ureteral dilatation, hydronephrosis, repeated urinary tract infections and renal dysfunction.

Symptoms of pediatric wrinkle plum syndrome Syndrome Common symptoms Abdominal skin plum dry wrinkles Abdominal muscles Severe dysplasia Inability to urinary tract cysts

Abdominal enlargement

At birth, the abdomen is swollen and slack, and some or all of the abdominal muscles are severely dysplastic. The abdominal muscles that are usually absent are from the middle to the lower abdomen. They can be unilateral or even completely absent. Because the abdominal wall is thin, it is easy to clear. The internal organs of the child.

2. Dry skin wrinkles

Named after the plum-like wrinkles.

3. Mostly male children

The vast majority of children are male with cryptorchidism.

4. Characteristic performance

It is not possible to switch from a lying position to a sitting position without the support of two arms.

5. Urinary tract abnormalities

There are many different degrees of urinary tract abnormalities, giant ureter, giant bladder, renal cyst, renal hypoplasia or dysplasia, urinary tract obstruction, etc., often manifested as urinary dysfunction and repeated urinary tract infections and renal function with varying degrees of progress Not complete.

6. Frequent respiratory infections

Cough is weak, because it can not effectively cough, and often have respiratory infections.

Examination of pediatric wrinkle plum syndrome

1, physical examination

The abdomen bulges forward and on both sides, the umbilicus moves upward, the skin is dry, thin, wrinkled, and many peristalsis is visible through the abdominal wall. Pick up or see a huge urinary bladder with dilated vesicles or water.

2, blood test

Leukocytes are significantly increased, seen in concomitant infections.

3, urine check

Leukocytosis was found to be associated with urinary tract infection.

4, serum creatinine, nitrogen creatinine clearance test

Helps to understand the judgment of kidney function and degree of deformity.

5, imaging examination

X-ray, B-ultrasound, CT, etc. can detect various abnormalities in the urinary system, digestive tract, and limb bones.

(1) Excretory urography: normal renal function, moderate hydronephrosis in both renal pelvis, enlarged renal pelvis, dull cup, less renal pelvis; bilateral ureteral dilatation, distortion, obvious in the lower and middle segments; bladder contour display Unclear.

(2) urinary bladder urethra angiography: the bladder volume is large, slack and weakness, the top can extend to the abdominal wall bulging part to form a pseudo-diverticulum or directly communicate with the umbilicus to form a umbilical opening. The neck of the bladder has a wide position, poor contraction and emptying, and a large amount of residual urine. More than half of the cases have severe ureteral reflux. Due to poor prostate development, the posterior urethra can be dilated, the above segment is obvious, most of the anterior urethra is normal, but can be combined with the giant urethra.

(3) CT scan of the abdomen: CT scan revealed defects in the development of the abdominal wall muscle layer, dysplasia of the urinary system, bilateral scrotum and no testis in the groin area.

(4) Abdominal X-ray film: The abdomen is bulged and bulged to the right side, and the intestine is inflated.

6, other should still do endocrine examination, renal function test, etc.

To help identify the diagnosis and understand the changes in the condition.

Diagnosis and diagnosis of pediatric wrinkle plum belly syndrome

diagnosis

According to the clinical characteristics can be diagnosed, but also through the B-mode ultrasound and X-ray examination of the kidney, ureter, bladder and digestive tract can help to confirm the diagnosis, but also should pay attention to renal function tests.

Differential diagnosis

There are three types of clinical types, and the following findings can be used for differential diagnosis.

Neonatal type

Absence of abdominal muscles at birth, complete urinary tract obstruction, extreme expansion of the urinary tract above the bladder, renal dysplasia or abnormal development of cysts, may have Porter's face (including soft drooping, low position, deformed outer ear, obvious internal suede , bird-like pointed flat nose, small jaw, old man appearance, etc.), often died of lung hypoplasia, respiratory distress or complete obstruction of the urinary tract.

2. Baby type

Only a few of the abdominal muscles or abdominal muscles are absent, uremia, urinary tract infection, stagnant growth, a few bladder outflow obstruction, and severe renal hypoplasia are found several weeks after birth.

3. Evening hairstyle

Abdominal dysplasia has been found at birth, but the urinary flow is unobstructed, and the renal function can be maintained. In addition, although there is a giant bladder and ureter and urination is often barrier-free, it is difficult to diagnose early, and repeated urinary tract infection can slowly progress to renal function. Depletion, this type of clinical is more common.

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