Scand J Urol Nephrol9: 297-300, 1975

PRUNE BELLY SYNDROME AT THE AGE OF 37 C a s e Report

J. Asplund and J. Laska

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From the Departments of Internal Medicine and Rodiology. Central Hospital. F o h n . Sweden

(Submitted for publication June 14, 1974)

male with Prune Belly Syndrome not diagnosed until the age of 37 is presented. Some factors that may have contributed to his survival are shortly discussed.

Abstract. A

The name “prune belly” has been coined as an apt description of the newborn infant afflicted with the disease. The abdomen is thin and wrinkled like a wizened prune, according to Williams (1968) who gives a thorough review of the syndrome. Bulging of The Prune Belly Syndrome (PBS) is a rare congeni- the flanks is characteristic. Later, with increasing tal disease almost exclusively limited to males; of subcutaneous fat, the wrinkles are more or less less than 200 cases hitherto reported only six have smoothened out and the child’s abdomen will more been girls. The syndrome is essentially a triad of‘ resemble a pear or a “pot belly”. ( I ) complete or partial absence of the musculaThe main clinical problem in PBS is the invariture of the lower abdominal wall, (2) bilateral ably associated urological malformation, which also cryptorchidism, and (3) dilatation of the urinary gives the characteristic radiographic picture of the collecting system combined with hydronephrosis disease. The ureters are grossly dilated and elonand renal dysplasia. Other abnormalities may be gated, the kidneys are hydronephrotic and/or dysfound, such as malrotation of the gut, heart defects plastic and there is a large bladder, often attached and various skeletal anomalies. ventrally to the abdominal wall. An urachal diThe pathogenesis of PBS is unknown. Most au- verticulum may be present. As a rule the bladder thors favour the theory of some teratological factor neck is wide but real obstruction is rare. A few mainly afflicting the development of the abdominal cases with urethral atresia have been described muscles and the urogenital system during the sixth (Williams & Burkholder. 1967; Soderlund. 1974 and seventh weeks of gestation. According to Smith (personal communication)). In some patients the (1970), the syndrome may be the consequence of a syndrome may be confused with the clinical picture single localized defect in early mesoderm, which presented by massive hydronephrosis secondary to eventually contributes to the formation of the ab- lower urinary tract obstruction: what is taken for an dominal and the urinary tract musculature as well absence of abdominal muscles actually is an as the renal parenchyma and possibly the atrophy caused by the abdominal distension begingubernaculum testis. ning in utero. In true muscle aplasia the lower recti In spite of the male dominance, no familial inci- are always absent, and there is no aponeurotic layer dence has been found, except for the pair of siblings (Williams & Burkholder, 1%7). reported by Harley, You Chen & Rattner (1972). The uropathy causes the generally bad outlook of Likewise, the chromosomal pattern has always the prune belly children. Many succumb during their early months and only 50% survive their first been normal with exception of three cases two years. This figure may possibly be augmented (Halbrecht, Komlos, Shabtai & Tiqva, 1972; Harley et al., 1972). by a more active surgical approach (Waldbaum & Scand J Urol Nephrol9

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cind J . Lriskn

elevated, 2.4 mg/100 ml. lnuline clearance was 38.9 ml/min. A J 13'-hippurane renogram disclosed a moderate decrease in renal ability. The function of the right kidney, though, could hardly be evaluated separately because of the patient's scoliosis. His chromosomal pattern was normal. An X-ray of the chest was normal except for the malformed lower thorax. Intravenous pyelography showed a somewhat delayed excretion with slightly reduced concentration. The right kidney was small with a highly reduced parenchyma, the left had normal size. The calyces were deformed on both sides. The ureters were grossly dilated, tortuous and elongated (Fig. 2) without visible peristalsis fluoroscopally. No obstacle to the urinary flow into the bladder was observed. Micturition cystography revealed a bladder of very large capacity: the patient tolerated more than I500 cc of the contrast medium (Isopaque Cysto') without difficulty. Otherwise the bladder was normal without signs of patent urachus or urachal cyst. A moderate reflux to both ureters appeared already after filling with 200 cc and increased with augmenting bladder volume. In spite of the large amount of fluid instilled, the patient was not able to void before he had consumed both coffee and beer, and then he emptied only part of the conbast medium. He could eliminate more of the bladder contents after applying manual

Fig. I . Frontal view of the patient.

Marshall, 1970). Some exceptional cases may have a more favourable prognosis even without treatment. However, very few adult patients with PBS have been reported.

CASE REPORT A man aged 37, full time working engineer, 1/5 healthy siblings, admitted because of accidentally discovered hypertension. Previously in good health except for one urinary infection 6 years ago which was obviously well treated. No children in spite of normal marital relations. The physical examination revealed a man in good condition. He was wearing a brace which concealed a very protruding abdomen with superfluous and wrinkled skin. The corset was originally prescribed during infancy in an orthopaedic clinic, and the prescription had been repeated several times without further investigation. The lower thoracic cage was malformed, and there was a marked lumbar scoliosis (Fig. I). The testes were undescended. Varicose veins were observed in both legs and a left-sided talipes equinovarus as well. There were extra mamillae. An apical low-grade systolic murmur was heard. !'k_e blood pressure was l85/115. Ophthalmoscopy revealed normal fundus. Routine laboratory examinations were normal except for a significant proteinuria. Repeated urinary cultures including search for sphaeroblasts were negative. No antibodies against E. coli were found. Creatininels was Scand J Urol Nephrol9

2. I.v. pyelography. Frontal picture taken about 30 minutes after injection of 50 cc Urovision@,showing the elongated, wide and tortuous ureters. There was no peristalsis at all on fluoroscopy.

Fig.

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Prune belly syndrome

Fig. 3. Micturation cystography. Semilateral view during

micturition. The bladder neck and the upper urethra are widened with a funnel-shaped narrowing at the external sphincter (arrow). N o real obstruction is observed. The huge ureters are seen to the right.

pressure to the bladder region but there still remained a considerable volume. During micturition the bladder neck and proximal part of urethra were widened with a funnelshaped narrowing at the level of the external sphincter, but no obvious obstruction to the urinary flow could be observed (Fig. 3). A ph/ebogrup/iy was also performed because of the patient's varicose veins. It disclosed a probable valve aplasia in the deep femoral vein. In the lower leg, valves were present to normal extent.

DISCUSSION Our patient undoubtedly has the Prune Belly triad as well as some additional malformations. It is uncertain whether the absence of venous valves observed in this case is relevant. Very few adult patients with PBS have been reported (Bourne & Cerny, 1967; Waldbaum & Marshall, 1970). For this reason our interest has been focused on those factors that may have contributed to the relative well-being of this patient. The marked dilatation of his upper urinary tract as well as the huge bladder with a large residual volume

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should reasonably have made him susceptible to repeated urinary infections. To our knowledge, though, only one previous infection has occurred, apparently well treated. The negative coli antibody reaction, too, contradicts the presence of severe coli infections. I t seems likely then that the reduction of renal parenchyma observed is not the result of chronic urinary infection. Furthermore, the degree of renal dysfunction has remained moderate in spite of the striking malformation of the urinary collecting system. It is the general opinion that the prognosis in PBS is essentially bad except for a few patients who have only minor changes in their urinary tracts (Waldbaum & Marshall, 1970). The changes in our patient are certainly not minor, and his hitherto successful progress somewhat contradicts the general view. Evidently, the lack of severe dysplasia and urinary obstruction has contributed to his survival. We noted with interest the patient's own statement that voiding, and defecation as well, is enhanced by wearing his corset or by applying external pressure to the bladder region. This accords with the observation made at the micturation cystography. The same manoeuvre was performed by one of the patients, aged 39, described by Bourne & Cerny (1967). Pressure and flow studies have been carried out. Williams & Burkholder (1967) found substantial streams, normal flow rates and micturating pressures in patients without urethral obstruction. This indicates a normal detrusor action. The authors claim that the residual urine noticed in these patients results at least partly from the washout of the dilated refluxing ureters. They also observed, however, that the patients are not able to raise their intra-abdominal pressure as much as normal children. It seems probable that measures intended to raise the intra-abdominal pressure should facilitate micturition in PBS patients. Thus, in our opinion, the brace originally prescribed for our patient for orthopaedic and cosmetic reasons may have contributed to his so far successful outcome. Probably the only way to substantially improve the prognosis in PBS is a more aggressive surgical approach as advocated by Waldbaum & Marshall (1970). However, some patients could possibly benefit from a permanent corset treatment. Scand J Urol Nephrol9

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REFERENCES Andrh, L., Bjersing, L. & Lagergren, J. 1964. Congenital aplasia of the abdominal muscles with urogenital malformations. Acta Radio1 (Diagn)2 , 298. Barnhouse, D. H. 1972. Prune Belly Syndrome. Br J Urol 44, 256. Bourne, C. W. & Cerny, J. C. 1%7. Congenital absence of abdominal muscles. Report of six cases. J Urol 98, 252. Grossman, H., Winchester, P. H. & Waldbaum, R. S. 1970. Syndrome of congenital deficiency of abdominal wall musculature and associated genito-urinary anomalies (Prune Belly Syndrome). In Progress in pediatric radiology, vol. 3 , Genito-urinary tract, pp. 32743. Karger, Basel and New York.

Halbrecht, I., Komlos, L., Shabtai, F. & Tiqva, P. 1972. Prune Belly Syndrome with chromosomal fragment. Am J Dis Child 123, 518. Harley, L. M., You Chen & Rather, W. H. 1972. Prune Belly Syndrome. J Urol108, 194. Smith, D. 1970. Recognizable patterns of human malformation, pp. 5 , 13. Saunders, Philadelphia. Waldbaum, R. S. & Marshall, V. F. 1970. The Prune Belly Syndrome: A diagnostic therapeutic plan. J UrollO3, 668. Williams, D. I. & Burkholder, G. U. 1%7. The Prune Belly Syndrome. J Urol98,244. Williams, D. I. 1968. Agenesis of the abdominal muscles. In Pediatric urology, pp. 282-86. Butterworths, London.

Prune belly syndrome at the age of 37. Case report.

Scand J Urol Nephrol9: 297-300, 1975 PRUNE BELLY SYNDROME AT THE AGE OF 37 C a s e Report J. Asplund and J. Laska Scand J Urol Nephrol Downloaded f...
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