Congenital Abdominal Muscular Dysplasia
Introduction
Introduction to congenital abdominal wall muscle dysplasia Congenital abdominal wall muscle dysplasia refers to the dysplasia of the anterior abdominal wall muscle, which is a rare congenital malformation. As early as 1839, Frolicll has reported that the most prominent feature of the disease is the wrinkled large abdomen, which often has congenital malformations of the genitourinary system. In 1895, Parker began to call abdominal muscle dysplasia, cryptorchidism and congenital giant bladder as "triple malformation". Because of the absence of abdominal muscles or dysplasia, the abdominal wall was loose, the skin formed wrinkles, and the external image was plum, so it was called plum dry. belly. Osler (1901) will be combined with bladder dilatation, hypertrophy, hydronephrosis, ureteral dilatation, testicular undescending and other malformations, visually named Prune-Bellysyndrome (PBS), also known as the disease-Eagle- Barrett syndrome, or a lack of abdominal wall, kettle abdomen syndrome. basic knowledge Sickness ratio: 0.0001% Susceptible people: infants and young children Mode of infection: non-infectious Complications: congenital abdominal wall muscle dysplasia renal failure
Cause
Congenital abdominal wall muscle dysplasia
(1) Causes of the disease
It is still not clear so far, and there are three possibilities:
Genetic factor
This inference applies only to individual cases.
2. Secondary to lower urinary tract obstruction
Due to the lower urinary tract obstruction secondary to the giant bladder and abdominal enlargement, the abdominal muscles are poorly developed, which also hinders the testicular decline. This inference cannot explain all cases, such as only abdominal muscle dysplasia, and other malformations.
3. Embryonic developmental disorders
Muscle, bone, kidney and ureter are formed by the mesoderm. When the germ layer is abnormally developed, the related system can be deformed. This inference is recognized by most scholars. In short, the etiology of PBS needs further investigation.
(two) pathogenesis
Congenital abdominal dysplasia is often uneven in all parts of the abdomen, mostly one side is heavier, the other side is lighter, the upper abdomen is lighter than the lower abdomen, and Randolph is an electromyogram for several cases of congenital abdominal muscle dysplasia. Understand the function of muscles in various parts, and find that there is no muscle reaction on both sides of the lower abdomen, and the upper abdomen and flank muscles are stronger. Some people think that the occurrence and severity of various muscle dysplasia in the abdominal wall have regularity. Inferior rectus abdominis, intra-abdominal oblique muscle, extra-abdominal oblique muscle, umbilical superior rectus abdominis are arranged in order, the head is more prone and more severe, gross observation, mild dysplasia, no obvious abnormal muscle, severe in muscle tendons There is little or no muscle fiber between the membranes, and the innervation of muscles and skin is normal. For severe cases, under the light microscope, although the muscle fibers can still be found, they have been broken or broken, and the myofibrils are broken under electron microscope. The endogenous glycogen particles are aggregated or diffusely dispersed, and the edges of the mitochondria are not standardized and are often dissolved.
The vast majority of congenital abdominal dysplasia, there are congenital anomalies in one or more other systems, Rabinowitz analysis of 17 female newborn PBS, only 5 cases of simple abdominal dysplasia, without other congenital malformations, Perhaps the deformity is mild and missed. The literatures of 1990 and 1994 reported separately, cases of congenital abdominal muscle dysplasia at 34 and 35 years old, no history of abnormal urinary system, sudden uremia, renal failure, when This is a congenital malformation associated with congenital abdominal dysplasia involving multiple systems.
Reproductive system malformation
Male patients are most often associated with cryptorchidism. Of the 42 male patients reported by Welch, 41 are cryptorchidism, of which 37 are bilateral and 4 are unilateral, with a concomitant rate of 97.9%. The testicles stay in front of the ureter. The testicles have no lead. If the testicles are not lowered in time to lower the testicles to the bottom of the scrotum, it will lead to germ cell developmental disorders. It has also been reported that the cryptorchidism of PBS patients becomes a seminoma.
Penile malformations are also diverse, some penis to the ventral side, the back side or one side is curved, and some penile caverns are absent. In 1994, a 14-day male newborn PBS with a scaphoid giant urethra, a huge penis , shaped like a spindle.
In addition, for the neonatal PBS autopsy, often found abnormal prostate development, female PBS can be associated with double uterus, vaginal septum, vaginal atresia.
2. Urinary system malformations
Diverse forms, high concomitant rate, PBS often have renal dysplasia, isolated kidney, polycystic kidney, renal cyst or hydronephrosis, etc., a group of 43 patients in the Welch group, 81 side of the kidney deformity, with a concomitant rate of 91 %, renal failure is the most common cause of death in patients with PBS. Renal parenchymal dysplasia, ureter and distal urinary tract lesions affect renal function.
The lesions of the ureter in PBS are often segmental dilatation and peristalsis. The proximal lesion is often lighter than the distal end. Histological examination shows that the muscle bundle of the lower ureter is almost completely replaced by fibrous tissue, lacking cells, and normal muscles. In the leaping distribution, except for the distal end, the normal ureteral wall has no ganglion cells, and the structure of the ureteral bladder junction is often abnormal, but there is no need for reflux of the ureter.
PBS patients have increased bladder capacity and various forms, mostly due to lower urinary tract obstruction, secondary to multiple bladder diverticulum, near the ureteral junction, there may be primary diverticulum, causing vesicoureteral reflux, The inner wall of the bladder is smooth, and the thickness of the entire bladder wall is uneven. The wall of the diverticulum is very thin. Some of them are only mucosa. They do not contain other layers of the bladder wall. The bladder triangle is thin, the area is abnormally stretched, the bladder neck is often enlarged, and some are enlarged. Continue to the urethral membrane, common urachal diverticulum at the top of the bladder, and connected to the umbilicus, umbilical ureter is not closed, the formation of umbilical urinary fistula is not uncommon.
The urethra of patients with PBS may be atresia or may be dilated. Reinberg (1993) reported 34 cases of PBS, 6 cases of urethral atresia, 3 males and 3 females, and the female companion rate was relatively high. Kroovand (1982) observed 19 male PBS, among which 13 cases of urethral dilatation, the incidence rate is as high as 60% or more. When the urethra of the PBS patient is dilated, the penis is also thick. When the urethra of the prostate is enlarged, the fibrous tissue of the urethra extends into and separates the prostate lobule, and the urethra below the prostate. May be caused by the surrounding abnormal tissue traction.
3. Respiratory malformations
Lung dysplasia is a common malformation of congenital abdominal dysplasia, which is the main cause of death in newborns with PBS within 1 week after birth. In addition, PBS has low respiratory exchange, Kwig et al. (1996) reported the results of the study. The respiration of 9 patients with PBS from 6 to 31 years old was observed. The respiratory function was poor in all cases, and the effective respiratory exchange was low. Among them, 7 patients had anti-normal respiratory movements, and the amount of respiratory exchange was significantly reduced, especially with exhalation. There are also reports of PBS with pulmonary isolation and pulmonary cysts.
4. Musculoskeletal system malformations
PBS is more often associated with congenital amputation, hip dysplasia, congenital clubfoot, scoliosis, thoracic deformity, etc. There are also reports of sternal bifurcation.
5. Other accompanying malformations
Such as mesenteric unfixed, poor intestinal rotation, anal atresia, megacolon, abdominal fissure and umbilical bulging, etc., have been reported in several cases, a few with various types of congenital heart disease, cleft palate and other deformities.
Prevention
Congenital abdominal wall muscle dysplasia prevention
The etiology of this disease is not clear, and may have certain correlation with environmental factors, genetic factors, dietary factors, and mood and nutrition during pregnancy. Therefore, it is impossible to directly prevent the disease against the cause. Early detection, early diagnosis, and early treatment are important for indirect prevention of this disease. Regular physical examination during pregnancy, for suspected early disease, chromosomal examination can be made clear, if necessary, according to the severity of the disease of the child, whether to lead the operation to terminate the pregnancy.
Complication
Congenital abdominal wall muscle dysplasia complications Complications congenital abdominal wall muscle dysplasia renal failure
Renal failure
Renal parenchymal dysplasia, ureteral tortuosity, dilatation, distal urinary tract malformation, urinary tract obstruction, etc. affect kidney function, leading to renal failure, and the most common cause of death in PBS patients.
2. Systemic dysplasia
When the child is accompanied by a respiratory malformation, due to the low effective respiratory exchange, the body is in a state of chronic hypoxia, which not only affects the heart function, but also affects the normal metabolism and growth of the body.
3. Abdominal wall
Abdominal organs through the dysplastic abdominal wall muscles protrude outside the abdominal cavity, can cause abdominal wall spasm.
Symptom
Congenital abdominal wall muscle dysplasia common symptoms abdominal skin plum dry wrinkles muscle dysplasia navel wet muscle contracture ureter dilatation congenital abdominal wall hypoplasia
The degree and location of abdominal muscle dysplasia are different, and the clinical manifestations are quite different. In severe cases of abdominal muscle dysplasia, the typical "Plum dry belly" appears in the clinic, that is, the abdomen bulges forward and both sides, the umbilicus moves upward, and the skin is more Dry, thin, wrinkled a lot, through the abdominal wall, visible peristalsis, it is easy to see or see a huge bladder outline, dilated ureter, polycystic or water-bearing kidney.
Partial abdominal wall muscle dysplasia, the part is light or heavy bulging, part of the abdominal cavity sinus into it, forming the abdominal wall sputum, showing that the covered skin is thin and uneven, through the thin abdominal wall, can also be seen the shape of the contained internal organs.
The abdominal wall muscle dysplasia is light, the deformity is mild, and the appearance is close to normal.
Children with urinary urethral fistula continue to overflow the urine from the umbilicus, and the umbilical skin often has a irritating rash, accompanied by congenital malformations of other systems, and should have its unique clinical manifestations.
Examine
Examination of congenital abdominal wall dysplasia
1. Quantitative analysis of amniotic fluid: 15 to 38 weeks of gestation, quantitative analysis of uterine fluid, sodium content less than 130mmol / L, creatinine content higher than 115mol / L, can prove that the fetal kidney function is normal, the mother's amniotic fluid is less Sometimes it suggests fetal lung dysplasia.
2. Children's serum creatinine, urea nitrogen, creatinine clearance test, etc., help to understand the judgment of kidney function and degree of deformity.
3. B-ultrasound: B-ultrasound examination at 20 to 30 weeks of pregnancy can be found in fetal urinary tract obstructive lesions and deformities. It is also the first choice for diagnosis. The location of urinary tract malformation and cryptorchidism can be found in children.
4. Renal pyelography (IVP) and urinary cystography: if necessary, can determine the degree and location of renal function, urinary tract malformation.
5. CT scan: can understand the abdominal wall muscles, respiratory system, urinary system deformity and so on.
Diagnosis
Diagnosis and diagnosis of congenital abdominal wall muscle dysplasia
1. Clinical symptoms: According to the typical clinical manifestations, it is rarely missed. It is important to detect pulmonary dysfunction and urinary malformation early.
2. Physical examination: Detailed experience after birth should be classified as routine. It is not difficult to find that the respiratory function is not good, and other abnormalities can be seen, such as anal atresia, umbilical catheter end closure, etc., and PBS has been initially diagnosed and should be further examined.
3. Imaging and laboratory testing.
