Prune Belly Syndrome: Clinicopathologic Study of 29 Cases

The clinical course and the pathologic features of 29 patients with the prune belly syndrome (PBS) are reviewed. There were 26 males and 3 females. In addition to the classical triad of deficient abdominal musculature, urinary tract abnormalities, and cryptorchidism, a broader spectrum of other defects was found including musculoskeletal (58%) and gastrointestinal (31%) abnormalities. Genital anomalies were present in all three female patients. Many of these defects may be inapparent at birth, but art the cause of morbidity and mortality later in life. Severe urinary tract maldevelopment and pulmonary hypoplasia as part of the oligohydramnios syndrome was the most common cause of perinatal deaths. In these patients, major portions of the renal parenchyma were dysplastic, but in survivors, renal dysplasia, when present, was minor by comparison, and affected less than 1/3 of the parenchyma. Although several questions remain unanswered, we believe that the PBS results from the effect of one or more teratogenic agents on the somatic mesoderm, producing inappropriate mesenchymal development and inadequate mesenchymal-epithelial interactions that lead to abnormal development and dilatation of some of its derivatives (abdominal muscles, meter, bladder, prostate, urethra, and gubernaculum). Although abnormalities in derivatives of the intermediate mesoderm (kidney) may also be produced by the injurious agent(s), they are more likely a result of urinary obstruction. Abnormalities in other organs and systems are the consequence of oligohydramnios.     

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

Abstract Twelve autopsy cases (9 males, 3 females) of the prune belly syndrome are presented. Principal anomalies of this syndrome are a prune-like abdominal 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 respectively. Associated anomalies were those which may or may not be embryologically related to the principal anomalies.
As regards the pathogenesis, the authors propose that a primary defect may occur 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.     

Gastrointestinal Malformations Associated with Prune Belly Syndrome: Three Cases and a Review of the Literature

Prune belly syndrome (PBS), a triad consisting of abdominal musculature hypoplasia, urinary tract malformations, and cryptorchidism, is frequently associated with other congenital malformations. Although it is acknowledged that gastrointestinal (GI) malrotation and mesenteric anomalies are frequent in PBS, other GI anomalies are generally considered to be exceedingly rare. Here we describe 3 autopsy cases with severe malformations of both midgut and hindgut derivatives and review the world literature to evaluate the spectrum of GI malformations associated with this syndrome. The relatively high frequency of distal stenoses and atrcsias suggests that the anomalous mesenteric attachments may predispose to prenatal volvulus and subsequent anatomic bowel obstruction. Postnatal volvulus is also occasionally observed. Infants with PBS also appear to be at a higher risk for persistence of the common fetal cloaca.     

Prune Belly Bladder Wall: Histological study and Adrenergic Receptor Expression

PurposePrune Belly syndrome (PB) curses with large bladder capacity, urachal diverticulum, lower sensibility, hypocontractility and post voiding residue. We evaluated the muscle|connective tissue ratio and the detrusor adrenergic receptors concentration in patients with Prune Belly Syndrome comparing with normal bladder (immunohistochemistry).Material and MethodsThirty six patients with Prune Belly syndrome were undergone to a surgical treatment. Fourteen PB- specimens and 18 18 control-specimens were studied (13 from radical prostatectomy with normal urodynamic- GC1 5 and children-detrusor – GC2 - from autopsy). Paraffin blocks were stained with Van Gieson and immunohistochemistry reaction with antibodies to adrenergic receptors. Images were acquired and analysed with Photoshop. The muscle|connective tissue ratio and the immunohistochemically positiv area (adrenoreceptors) ratio were calculated. The statistic test Mann-Whitney was employed (p < 0,05).ResultsThe mean age in PB group was 1.2 years, 64 years in GC1 and 1.41 in GC2. The muscle|connective tissue ratio in Prune Belly was 1.08, in GC2 1,59 and 1.28 in normal bladders from childrens – GC2 (p = >0.05). Considering a1a, the median of pixels proportion receptor/muscle calculated was 0.06 in group PB, 0.16 in group GC1 and 0.14 in group GC2 (p = 0.027). Ther were no difference in this median for a1b (p = 0.781), a1d (p = 0.618) and b3 (p = 0.378).ConclusionsThere is a hypoexpression from the adrenoreceptor a1a in this disease, but no change in the receptors a1b, a1d and b3, and no change in the muscle|connective tissue ratio.This finding can contribute to develop future therapies.     

Prostate Development in Prune Belly Syndrome (PBS) and Posterior Urethral Valves (PUV): Etiology of PBS-Lower Urinary Tract Obstruction or Primary Mesenchymal Defect?

Prune belly syndrome (PBS) has been recognized since 1950 as the triad of absent abdominal wall musculature, undescended testes, and urinary tract anomalies. The etiology, however, remains uncertain. Theories of mesenchymal maldevelopment, obstruction, and genetic origin have been proposed. To evaluate the role of lower urinary tract obstruction as it relates to prostatic development and PBS, we studied the lower urinary tract of 15 cases of PBS, 8 cases of posterior urethral values (PUV), and 34 age-matched controls. It is generally accepted that prostatic growth and development are dependent on mesenchymal-epithelial interactions. We evaluated the mesenchymal and epithelial differentiation and relationships, and found distinctly different and consistent abnormalities between PBS and PUV as compared with one another and controls. The findings suggest that in PBS, prostatic growth and development are hindered because of destruction or absence of the appropriate primitive mesenchyme. Our studies could not definitely exclude very early obstruction as a cause of the findings because of lack of appropriate fetal material.     

Patterns of Congenital Lower Urinary Tract Obstructive Uropathy: Relation to Abnormal Prostate and Bladder Development and the Prune Belly Syndrome

The pathogenesis of lower urinary tract obstruction is disputed, particularly its relation to both abnormal prostatic development and the prune belly syndrome (PBS). In an attempt to clarify this issue we examined 11 males (17–38 weeks gestation) with PBS who were autopsied at our institution. The lower urinary tract was embedded intact and prepared as serial histologic sections. Of the 11 cases, 8 demonstrated mechanical obstruction of the lower urinary tract. In five of these eight cases, a “flap-valve” structure was formed by an abnormal angulation between the prostatic and penile portions of the urethra. These had dilated, thin-walled bladders and prostates and moderate to severe renal dysplasia. One of the eight cases had a valve-like obstruction at the level of the mid-prostatic urethra associated with a complex cloacal malformation and a thin-walled bladder, another case had an epithelial plug at the penile meatus, and the last of the eight cases had a posterior urethral valve. The three remaining cases showed no mechanical obstruction. However, each had megacystis with marked thickening, interstitial fibrosis, and disarray of smooth muscle bundles in the bladder wall. In 10 cases, the prostate had no or only sparse, flattened glands. These results suggest that the abnormal development of the prostate in PBS may be explained as a pressure-induced dysplasia rather than a primary maldevelopment. The findings further suggest that abnormal prostatic development and the prune belly syndrome may arise from either anatomic obstruction of various types or functional obstruction from megacystis. Received September 20, 2000; accepted February 9, 2001.     

A Case with Weaver Syndrome Operated for Congenital Cardiac Defect

An 11-month-old Turkish female infant with Weaver syndrome together with atrial septal defect and patent ductus arteriosus which was operated successfully is reported. Weaver syndrome is a very rare disorder of unknown etiology characterized by accelerated growth of prenatal onset, advanced osseous maturation, special craniofacial features, umbilical hernia, and hoarse low-pitched cry. Congenital cardiac defect is not a usual finding. The presented case is the first reported child with Weaver syndrome in the literature operated for a congenital cardiac defect.     

Transient Leukemia-Associated Pericardial Tamponade in a Neonate with Down Syndrome

Approximately 10% of neonates with Down syndrome may develop a form of megakaryoblastic leukemia that usually disappear spontaneously during the first months of the life. Although it seems to have a benign course, it may also be lethal and severe in some cases, especially in the form of hydrops and/or cardiopulmonary failure. Herein, we report a male infant with Down syndrome who was admitted with respiratory distress due to severe pericardial effusion leading to pericardial tamponade in the first 2 weeks of life. Pericardiosentesis and pericardial tube replacement in combination with steroid therapy was performed. He responded well to these therapies and his leukemia resolved on the fourth month of life. This case suggests that severe pericardial effusion and pericardial tamponade may be life-threatening complications of transient leukemia of Down syndrome and also it may be managed successfully with appropriate treatments.     

梅干腹综合征并漏斗胸、左肾及脾脏缺如内脏转位1例报告

No abstract available     

Bardet-Biedl Syndrome with Urogenital Sinus Presenting with Acute Renal Failure in a Neonate

This is a case report of Bardet-Biedl syndrome with a urogenital sinus and an ectopic right ureter presenting with acute renal failure in the neonatal period in a female baby. Acute renal failure in these patients is commonly known to occur around 5–7 y of age and neonatal presentation is extremely rare.     

梅干腹综合征并漏斗胸、左肾及脾脏缺如内脏转位1例报告

<正>患儿男,1d。系第2胎第2产,母孕期B超示胎儿巨大膀胱,足月剖腹产出生。家族史无异常。出生后查体:身长46cm,体重2400g。一般情况可,发育营养尚可,无特殊面容;漏斗胸,肋缘外翻,双肺呼吸音粗,未闻及干湿性罗音。     

A Neonate with Cyanosis and Tortuous Great Arteries

This report describes an unusual case with tortuosity of the great vessels in a neonate who presented at birth with cyanosis. The diagnosis was made with magnetic resonance imaging (MRI), then confirmed by genetic analysis.     

Fryns Syndrome: A Lethal Birth Defect with Variable Phenotypic Expressions in Siblings

Fryns syndrome (FS) is a multiple congenital anomaly syndrome, inherited as an autosomal recessive defect with variable expression. The authors report a newborn with FS, whose mother had two previous affected pregnancies with the infants having variable phenotypic expression. FS is characterized by craniofacial dysmorphism, diaphragmatic hernia and distal limb hypoplasia. This is the first published report from India describing a case of FS with familial recurrence, which would serve further to illustrate the clinical variability of this disorder.     

Stenting of a Stenosed Sano Shunt in a Neonate with Hypoplastic Left Heart Syndrome

We report on successful stenting of a proximally stenosed Sano shunt in a newborn with hypoplastic left heart syndrome after a stage I Norwood operation.