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Prune Belly Syndrome : Report of Twelve Autopsy Cases and Possible Pathogenesis

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Prune Belly Syndrome : Report of Twelve Autopsy Cases and Possible Pathogenesis Cong. Anorn., 25: 1-15, 1985 Original Prune Belly Syndrome : Report of Twelve Autopsy Cases and Possible Pathogenesis Kenji KAWAMOTO, Takayoshi IKEDA, Takeshi MATSUO, Hiroshi MAEDA, Naomasa OKAMOTO*, Yukio SATOW*, Naotaka AKI- MOTO* and Juing-Yi LEE* 1st Department of Pathology, Nagasaki University School of Medicine, 12-4 Sakamoto-rnachi, Nagasaki 852, Japan and *Department of Geneticopathology, Research Institute for Nuclear Medicine and Biology, Hiroshima University, 1-2- 3 Kasumi, Minarni-ku, Hiroshima 734, Japan ABSTRACT Twelve autopsy cases (9 males, 3 females) of the prune belly syn- drome are presented. Principal anomalies of this syndrome are a prune-like abdom- inal feature and a giant bladder. Urethral atresia was observed in most but two cases. Imperforate anus and rectovesical fistula were observed in 8 and 7 cases res- pectively. Associated anomalies were those which may or may not be embryologi- cally related to the principal anomalies. As regards the pathogenesis, the authors propose that a primary defect may oc- cur during any developmental stage of the somitic mesoderm, genital tubercle and urethra. In conclusion, the prune belly syndrome may be of spectrum anomalies depending on the stage specificity mainly in the abdominal wall and genito-urinary organs. Key words: prune belly syndrome, absence of abdominal muscles, pathogenesis The prune-belly syndrome is a rare congenital malformation characterized by the typical triad, comprising abdominal muscle deficiency, urinary tract abnormalities and cryptorchidism. Ths condi- tion was first reported by Frohlich in 1839 and Parker (1895) proposed the above triad. Further, Osler first coined the term "prune-belly syndrome" for this condition in 1901, based on the charac- teristic wrinkled. appearance of the abdomen. The prune-belly syndrome is also known as congenital absence of abdominal muscles (Housden, 1934), Eagle-Barrett syndrome (Eagle and Barrett, 1950), congenital deficiency of the abdominal musculature and obstructive uropathy (McGovern and Mar- shall, 1959), triad syndrome (Nunn and Stephens, 1961) and abdominal musculature deficiency syn- drome (Welch, 1979). Various associated anomalies such as gastrointestinal, orthopedic, cardio- vascular and thoracic anomalies have been reported. It occurs predominantly in males, but rarely in females (Welch, 1979; Hirao et al., 1974; Sakuma et al., 1980). 2 K. Kawamoto et al. On the other hand, the pathogenesis of the prune-belly syndrome has been a long-standing, unset- tled controversy to date. The purpose of this paper is to report twelve autopsy cases of the prune-belly syndrome that were experienced during 31 years between 1952 and 1982 and to discuss the possible pathogenesis of this syndrome. CASE REPORTS The cases are listed in Table 1. A. Clinical and biometrical data (Table 1) Among 12 cases presented, nine were male and three were female. Six cases were still-born, four were of neonatal death and two were unknown. Seven cases were born after more than 9 months of pregnancy while 5 cases were premature. The youngest case was 4 month old in fetal age (Case 1, Fig. 2A). The body weight was heavier or normal in most cases compared with normal fetuses and newborns, but Cases 9 and 11 showed a relatively low weight. The abdominal circumference was markedly larger than that in normal fetuses of corresponding gestational age and the size of the urinary bladder was also giant in most of the cases. The mean maternal age of six cases was 25.8 year old. In Case 12, an ultrasound scan at the 25th week revealed oligohydramnios and a cystic lesion in the fetal abdomen. B. Autopsy findings 1. Major anomalies (Table 2) Major anomalies were observed in three organ systems as shown in Table 2. a) kbdomen. In all cases, the abdominal wall was markedly distended and was typically wrin- kled, resembling to a prune (Fig. 2). Histologically, the musculature of anterior abdominal wall was absent in two of eight cases examined, in which dense collagenous bundles were formed in the area corresponding to the muscular bundle (Fig. 4C, D). In six of eight cases, the anterior abdominal muscles showed moderate to severe hypoplasia, in which their muscle fibers were scattered and sur- rounded by sparse collagen fibers (Fig. 4A, B). No muscular degeneration nor necrosis was noted. b) Urinary tract anomalies. The bladder was extremely distended and showed thickening of the walls with muscular hyperplasia except for Case 4. Histological structure of the bladder wall showed an increase of fibrous connective tissue especially in the submucosal and muscle layers, sur- rounding individual muscle fibers (Fig. SA), although in only Case 4 the wall of the bladder was rather thinner (Fig. 5B) and showed an increase of fibrous tissue and a decrease of muscular cells. Among nine cases of the kidney examined histologically six cases exhibited the characteristics of renal dysplasia corresponding to the type 2 of Potter’s classification of cystic kidney. These kid- neys were always smaller than normal in size. The microscopic features of renal dysplasia were characterized by cystic dilatation of tubules surrounded by immature mesenchymal tissue, islands of cartilage and diminished glomeruli (Fig. 6A, B, C). The kidney in Case 4 showed subcapsular cysts corresponding to the type 4 of Potter’s classification (Fig. 6D). The kidney in two other cases was normal except for mild hydronephrosis (Cases 2 and 6). Hydronephrotic kidneys were seen in eight of ten cases and a horseshoe kidney (Fig. 3D) in Case 12. Hydroureter was found in ten cases, of which seven were bilateral and three were unilateral. The only case with no remark- Table 1 Clinical and biometrical data of the prune-belly syndrome ~ Autopsy Sex Type of Gestation** Body C-H C.f. Size of Age of Case Year Number Birth month Weight(g) (cm) Abdomen (cm) U.B. (cm) Mother or week ~ 1 1952 T-1768 M S.B. 4M 23.5 9.7 N.E. 3.4 X 4.0 * 2 1955 T-2204 M S.B. 1OM 3750 32.9 53.5 11.0 X 14.0 * 3 * T-2396 M S.B. 7M 2410 38.5 N.E. N.E. 21 4 1959 T-2850 M * 1OM 3140 49.0 34.8 5.0 x 5.0 * 5 1965 HG-1016 M N.D. 9M 2920 46.2 45.2 15.0 X 12.0 * 6 1966 HG-1172 M S.B. 23W 920 26.1 32.9 10.0 x 11.0 * 7 1967 HG-1371 F * 7M 1900 38.0 30.0 7.0 X 7.0 * 8 1977 HG-3744 F S.B. 1OM 2900 43.0 37.0 10.0 X 8.0 22 9 1978 HG-3979 M N.D. 34w 1700 47.0 31.0 7.5 x 5.5 23 10 1980 HG-4 16 3 M N.D. 1OM 3030 49.6 47.7 N.E. 26 11 1981 HG-4473 F S.B. 39w 2380 48.3 32.1 6.0 x 5.5 28 12 1982 FN-65 M N.D. 31W 2580 41.2 40.0 13.0 x 11.0 29 ~ S.B.: Still birth, N.D.: Neonatal Death, C-H: Crown to heel length C.f.: Circumference, U.B.: Urinary Bladder, N.E.: not examined *: No information was available, **: ovulation age W 4 K. Kawarnoto et al. able change in the ureter was Case 1 that was born in 4 months of pregnancy. In most cases affected, however, the ureter was elongated, tortuous and attenuated. Some cases were associated with un- ilateral or bilateral absence of the ureterovesical orifice. Histologic observation of the ureter revealed the absence or hypoplasia of smooth muscles with moderate to severe fibrosis of the ureteral wall (Fig. 7). A urachal cyst was present in two cases (Cases 11 and 12). Of 12 cases, nine were associated with urethral atresia, two had a normal urethra without stenosis, dilatation and urethral valves, and one was not examined. c) Genital organs. In all nine males, both testes were found in the abdominal cavity and were located in an upper position than in normal. Furthermore, a hypoplastic penis was found in four cases and absence of the prostate in two cases. Of three females, uterus bicornis unicollis was found in two cases (Fig. 3B) and the other case showed didelphic bicornis and double vagina with atresia (Fig. 3C). Furthermore, absence of the external genitalia was found in two cases (Cases 7 and 8) and female pseudohermaphroditism which showed hypertrophy and elongation of the clitoris and swelling of the vulva was found in one case (Case 11). Hypoplasia of the ovary was found in two cases (Cases 7 and 8). 2. Associated anomalies (Table 3) a) Digestive system. Among digestive anomalies, imperforate anus was most frequent (8 cases) and all of them showed rectal atresia according to Gross’s classification. Recto-vesical fistula was also frequent (7 cases), but complete persistence of the cloaca was not found. Common mesentery was observed in three cases. Malrotation, Meckel’s diverticulum, ectopic pancreas, and rectourethral fistula were observed in one case each. b) Ysteomuscular system. The most frequent anomaly was metatarsus varus or talipes calcane- ovarus (7 cases). Three cases had spina bifida. Congenital dislocation of the hip was found in two cases. Furthermore, amputation of the leg, genu recurvatum, and absense of the thumb were found in one case each. c) Cardiovascular system. Five cases were associated with cardiovascular anomalies including coarctation of the aorta, double outlet right ventricle, persistent truncus arteriosus (PTA), persistent left superior vena cava (PLSVC), PDA and isolated VSD. d) Miscellaneous associated anomalies. Abnormal lobulation and hypoplasia of the lung were found in five cases each, of which one case (Case 11) had a Potter’s face.
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