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Prune Belly Syndrome Journal of Perinatology (2009) 29,69–71 r 2009 Nature Publishing Group All rights reserved. 0743-8346/09 $32 www.nature.com/jp IMAGING CASE BOOK Prune belly syndrome TE Herman and MJ Siegel Department of Radiology, Mallinckrodt Institute of Radiology, St Louis Children’s Hospital, Washington University School of Medicine, St Louis, MO, USA Journal of Perinatology (2009) 29, 69–71; doi:10.1038/jp.2008.88 widely patent and vesicoureteral reflux occurs in 75% of patients.1 The urinary bladder is enlarged, often thickened, but non- Case trabeculated. Between 25 and 50% of patients have either a patent A 3520-g infant was born at term to a 21-year-old gravida 2, para 1 urachus or urachal diverticulum. The prostatic urethra is dilated mother. The pregnancy had been complicated by a sonogram with a small verumontanum, and urethral obstruction is an demonstrating a distended bladder, dilated ureters, right club foot associated finding reported in 0–100% of patients. Cryptorchidism and oligohydramnios. At birth, the amniotic fluid was meconium is present in 95% of patients. Obviously, the entire triad is not stained and the infant was initially in respiratory distress. The present in female patients. In reviews of female patients with PBS, Apgars were 4 at 1 min, 3 at 5 min and 9 at 10 min. On physical all patients have had urethral atresia,2,3 which has increased examination in the nursery, the baby was noted to have bilateral interest that urethral obstructions are the underlying etiology of cryptorchidism and bilateral clubbed feet. An abdominal PBS. Calcifications occur in the bladder dome and urachus in radiograph (Figure 1), renal sonogram (Figure 2) and voiding some patients with PBS, which are dystrophic, possibly related to cystourethrogram (Figure 3) were performed. bladder distention.4 Denouement and discussion The abdominal wall, renal, bladder and urethral abnormalities in this infant are those of prune belly syndrome (PBS). PBS is characterized by a triad of findings (and is sometimes therefore called triad syndrome). These include the following: (a) deficient abdominal musculature, (b) urinary tract anomalies with megacystis and megaureters and (c) cryptorchidism.1 The disease occurs in approximately 1 in 50 000 live births and 95% of patients are male. Most cases are sporadic, although rarely familial cases have been described. The skin of the anterior abdominal wall is wrinkled, thin and lax, which accounts for the prune-like appearance and the name of the syndrome. The anterior abdominal wall muscles are absent in 30% of cases, replaced by dense collagenous tissue and hypoplastic with areas of absence in 70%.2 The genitourinary anomalies consist primarily of renal hypoplasia, dysplasia, ureteral dilatation, megacystis, dilated prostatic urethra and prostatic hypoplasia.1 Variable degrees of renal dysplasia occur ranging from severe dysplasia with cartilage metaplasia to mild cystic dysplasia. The ureters are usually dilated, ectatic and thick-walled. There may be focal areas of ureteral stenosis and gigantism. The ureterovesical junction is usually Correspondence: Dr TE Herman, Department of Radiology, Mallinckrodt Institute of Radiology, St Louis Children’s Hospital, Washington University School of Medicine, Figure 1 Supine frontal view of abdomen. The right flank is bulging with 510 South Kingshighway Blvd., St Louis, MO 63110, USA. very little abdominal wall tissue covering the air-filled right flank bowel loops. E-mail: [email protected] The ribs have a transverse orientation, sometimes referred to as a ‘coat-hanger’ Received 28 April 2008; accepted 13 May 2008 deformity. Prune belly syndrome TE Herman and MJ Siegel 70 Figure 2 (a) Longitudinal sonogram right kidney, (b) longitudinal sonogram left kidney and (c) longitudinal sonogram urinary bladder. There is cystic dysplasia of the right kidney, manifested by peripheral cysts (arrows) and increased parenchymal echogenicity. The left kidney is also highly echogenic, but without cysts, and is also dysplastic. The bladder is slightly thick-walled and of very large volume. sex-modified autosomal-recessive condition1Fthese theories have not been confirmed by histological examination, fetal sonography or twin studies. Currently, the most frequently discussed etiologies of PBS include urethral obstruction, mesodermal defect and abnormalities of the allantois. The latter theory is not widely held but suggests that the allantois is abnormally large and abnormally incorporated into the abdominal wall. This theory may be supported, however, by the very slight increased frequency of omphalocele in PBS patients.5 The mesodermal defect theory implies that a noxious event to the mesoderm prevents normal development of the abdominal muscles and urinary tract muscles. Figure 3 (a) Oblique radiograph bladder, (b) voiding urethral film. A urachal The theory of urethral obstruction is now most widely held.1,6 This diverticulum (arrow) is seen at the dome of the urinary bladder. The urethra is tortuous with a dilated prostatic urethra (arrowhead). theory suggests that urethral obstruction at a certain period of fetal life leads to distention of the urinary system, urinary ascites and Although, over the years, many theories have been suggested to abdominal distention with degeneration of the abdominal explain PBS, including persistent abnormal bladder fixation at muscles.1 The dilated bladder presents normal testicular descent. It the umbilicus, aganglionosis and a genetic causeFx-linked or is most widely believed that bilateral fetal obstructive uropathy Journal of Perinatology Prune belly syndrome TE Herman and MJ Siegel 71 leads to PBS, especially owing to urethral obstruction at the syndrome die in the neonatal period and no treatment is effective. junction of the anterior and posterior urethra,4 but which may Those with mild involvement often do not require surgical have been relieved by the time of delivery. This relief of presumably intervention if the system is low pressure but drains adequately. high-pressure urinary tract obstruction in utero explains why low However, infections must be prevented, especially those due to pressure, non-obstructed urinary tract systems are often found in Proteus mirabilis and other urea-splitting organisms, which can newborns with PBS.1 Fetal sonographic examinations have lead to hyperammonemic encephalopathy14 in PBS patients provided additional evidence that patients with PBS had ascites and without liver dysfunction. Urinary diversion is now used fairly abdominal distention in utero.7 conservatively to improve or maintain renal function.15 Orchiopexy Associated abnormalities in PBS patients, in addition to and ureteral reimplantation have the same indications in PBS abdominal wall and genitourinary findings, are present in many patients as in other patients. patients. Approximately 30% of patients have malrotation and malfixation of the intestines.8 Intestinal atresia and stenosis are also not uncommon. Atresias are more common than stenosis, and References most of the atresias occur in the colon, which is in marked 1 Wheatley JM, Stephens FD, Hutson JM. Prune belly syndrome: ongoing controversies contrast to the usual case in patients without PBS, in whom small regarding pathogenesis and management. Semin Pediatr Surg 1996; 5: 95–106. bowel atresias are 13 times more common than colonic atresias.7 2 Reinberg Y, Shapiro E, Manivel JC, Manley CB, Pettinato G, Gonzalez R. Prune belly Imperforate anus and persistent cloaca also occur more frequently syndrome in females: a triad of abdominal musculature deficiency and anomalies of the urinary and genital system. J Pediatr 1991; 118: 395–398. in PBS patients. Occasionally, an intermediate condition is present 3 Manivel JC, Pettinato G, Reinberg Y, Gonzales R, Burke B, Dehner LP. Prune belly in which the rectum ends blindly in the bladder wall but without syndrome: clinicopathologic study of 29 cases. Pediatr Pathol 1989; 9: 691–711. communication, which if present would have created a cloaca. 4 Kirchner SG, Kirchner FK, Jolles H, Heller RM, Rhamy RK, Donnell RM. Bladder Splenic torsion is also increased in frequency.8,9 Many of these calcification in the prune belly syndrome. Radiology 1981; 138: 597–600. findings can be attributed to the abdominal distention with a 5 Guvenc M, Guvenc H, Aygun D, Yalcin O, Gaydinc YC, Soylu F. Prune belly syndrome capacious abdominal cavity allowing malfixation and an increased associated with omphalocele in a female newborn. J Pediatr Surg 1995; 30: 896–897. 6 van Veldon DJJ, deJong G, vander Wait JJ. Fetal bilateral obstructive uropathy: a series likelihood of intrauterine volvulus. of 9 cases. Pediatr Pathol 1995; 15: 245–258. Orthopedic findings in PBS patients include talipes equinovarus 7 Smythe AR. Ultrasonic detection of fetal ascites and bladder dilation with resulting (club foot), vertical talus and congenital hip dislocation.10 Lower prune belly. J Pediatr 1981; 98: 978–979. extremity hypoplasia or aplasia also occurs. This is found to be 8 Wright JR, Barth RF, Neff JC, Poe ET, Sucheston ME, Stempel LE. Gastrointestinal more frequent on the right than the left. Occasional cases are malformations associated with prune belly syndrome. Pediatr Pathol 1986; 5: 421–448. associated with limb gangrene, suggesting that the cause is 9 Teramoto R, Opas LM, Andrassy R. Splenic torsion with prune belly syndrome. compression of the iliac/femoral vessels by the large urinary J Pediatr 1981; 98: 91–92. 11 bladder. Pulmonary manifestations of PBS are variable in 10 Green NE, Lowery ER, Thomas R. Orthopaedic aspects of prune belly syndrome. severity. The most severe is pulmonary hypoplasia associated with J Pediatr Orthop 1993; 13: 496–501. oligohydramnios and Potter’s facies. Also common is lobar 11 Perez-Aytes A, Graham JM, Hersh JH, Hoyme HE, Aleck K, Carey JC. Urethral obstruction atelectasis and pneumonia due to poor ventilation because of sequence and lower limb deficiency; evidence for the vascular disruption hypothesis. J Pediatr 1993; 123: 398–405. deficiency of abdominal musculature and thoracic wall 12 Alford BA, Peoples WM, Resnick JS, L’Heureux PR. Pulmonary complications associated 12 deformity. with the prune belly syndrome.
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