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Prune Belly Syndrome with Bilateral Hydronephrosis - a Case Report

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Prune Belly Syndrome with Bilateral Hydronephrosis - a Case Report International Journal of Health Sciences and Research www.ijhsr.org ISSN: 2249-9571 Case Report Prune Belly Syndrome with Bilateral Hydronephrosis - A Case Report Kumar G V1, Shivaleela C2, Viswanathakumar H M3, Suresh B S4 1Assistant Professor in Pediatrics, 2Assistant Professor in Anatomy, 3Professor & HOD of Pediatrics, 4Associate Professor of Anatomy; Sri Siddhartha Medical College, Tumkur, Karnataka, India. Corresponding Author: Kumar G V Received: 02/03//2014 Revised: 29/03/2014 Accepted: 02/04/2014 ABSTRACT Prune belly syndrome is a rare congenital anomaly of uncertain etiology almost exclusive to males. It is characterized by the triad of absent or incomplete abdominal musculature, undescended testes, and urinary tract abnormalities. A male baby with above characteristic triad was brought to our hospital. A diagnosis of prune-belly syndrome was made. Here we report a case of prune-belly syndrome, in order to highlight the occurrence of this rare syndrome in our environment and to review its pathogenesis, presentation and management. Key words: Prune-belly syndrome, hydronephrosis. INTRODUCTION The case is reported for its rare congenital Prune belly syndrome was described abnormality. for the first time in the 1800s.[1] It is a rare condition defined by the triad of abdominal CASE REPORT muscle deficiency, severe urinary tract A 3.0kg male baby was brought to abnormality and cryptorchidism.[2-4] Other our hospital by an un-booked 23-year old names for Prune Belly Syndrome are Eagle- Gravida 1, Para 1, mother with history of Barret syndrome, Triad syndrome, Osler- abdominal distension since birth, fever and Parker Syndrome. It is caused by urethral lethargy since 2days and not taking feeds obstruction early in development resulting in since one day. On examination vitals were massive bladder distension and urinary stable. Abdominal examination revealed ascites, leading to degeneration of the huge distension with thin abdominal skin, abdominal wall musculature and failure of protruding most prominently on the right testicular descent. The urinary tract may side (fig.1). Both the kidneys were palpable. have variable degrees of hydronephrosis, Perineal examination showed bilateral renal dysplasia, dilated tortuous ureters, cryptorchidism (fig.2). Other systems were enlarged bladder, and a dilated prostatic within normal limits. Investigations showed urethra.[5] The exact etiology is unknown. Hb14.3gm%, Tc 17,000/mm, ESR 36mm/1hr, Serum creatinine 0.3mg, Blood International Journal of Health Sciences & Research (www.ijhsr.org) 233 Vol.4; Issue: 4; April 2014 urea 20mg. Urine examination showed prune belly syndrome with posterior urethral plenty of pus cells and klebsiella was grown valve with bilateral hydronephrosis with on culture. Ultrasonography showed urinary tract infection was made. congenital posterior urethral valve with Kyariotyping was normal. Baby was bilateral hydronephrosis with hydroureter referred to higher center for further and distended bowel loops. Diagnosis of management. Fig-1. Baby with prune belly syndrome showing protruded Fig 2. Baby with prune belly syndrome showing bilateral abdomen with thin abdominal wall. undescended testes. DISCUSSION in 7.3% of cases, among which cardiac 10%, This anomaly was first described by pulmonary 55%, gastrointestinal 31% , and Frolichs in 18396. Parker in 1895 presented orthopedics being 40-63% .[10,11] The genetic a case with deficient abdominal wall basis has been explored but no clear musculature and dilatation of the urinary inheritance pattern has emerged. The tract.[7,8] The term Prune Belly was first observation of 100% discordance among all coined by Oslar in 1901, as the skin of the twins in whom monozygosity has been patient had dried plum appearance with skin proven, goes against a genetic aetiology.[12] creases.[8] In 1950, Eagle Barret described a However, the reported association with syndrome involving congenital deficiency of Turner’s syndrome, monosomy 16, Trisomy the abdominal muscles with associated 13 and Trisomy 15 confound identification genitourinary abnormalities called the of a simple gene locus.[13] “Triad`` or Eagle Barret Syndrome.[8] The pathogenesis is not clearly History says that infants born with a full known. The mesodermal defect theory blown syndrome had a poor prognosis for suggests that a defect exists in the mesoderm long term survival.[6] Incidence: 1: 35,000 to of the anterior abdominal wall and urinary 1:50,000 live births. Twins, blacks and tract. Between 6 and 10 weeks of gestation, children born to younger mother appear to aberrant development of the derivatives of be at higher risk in epidemiological the first lumbar myotome leads to a patchy studies.[6,9] The defect is almost exclusively muscular deficiency or hypoplasia of the seen in males. A fully developed syndrome abdominal wall as well as to urinary tract is seen only in this sex.[7] Clinically abnormalities.[14,15] An alternate theory, significant non-urological features are noted proposes that pressure atrophy of the International Journal of Health Sciences & Research (www.ijhsr.org) 234 Vol.4; Issue: 4; April 2014 abdominal wall muscles occurs when CONCLUSION urethral obstruction leads to massive Early diagnosis of this syndrome and distension of the bladder and ureters. determining its optimal treatment are very Bladder distension would also interfere with important in helping to avoid its fatal course. descent of the testes and thus be responsible These patients need multidisciplinary for the bilateral cryptorchidism. This management of a neonatologist, mechanism is responsible for the urinary nephrologists, and pediatric urologist for an tract dilatation and distension.[16] optimal outcome. Pregnant ladies should The higher incidence of this have regular antenatal check up with syndrome in males has been explained on anomaly scan and health education the basis of the more complex regarding intake of nutritious food, folic morphogenesis of the male urethra, possibly acid, required vitamins and minerals. resulting in obstructive anomalies at several Genetic counseling of parents is important, levels. Ultrasound, plain X-ray, and especially those with a history of abortion, intravenous pyelogram are more useful perinatal death, or with a family history of investigations to diagnose the condition. genetic diseases. Many neonates with this syndrome have difficulty with effective bladder emptying REFERENCES because the bladder musculature is poorly 1. Parker RW: Absence of abdominal developed. When no obstruction is present, muscle in an infant. Lancet 1895, the goal of treatment is the prevention of 1:1252–1254. urinary tract infection with antibiotic 2. Metwalley KA, Farghalley HS, Abd- prophylaxis. When obstruction of the ureters Elsayed AA: Prune belly syndrome or urethra is demonstrated, temporary in an Egyptian infant with down drainage procedures, such as a vesicostomy, syndrome: a case report. J Med Case may help to preserve renal function until the Rep 2008, 2:322 child is old enough for surgery. Urinary tract 3. Matsuzaki K, Nakamura T, Tahara infections occur often and should be treated T, Sozumi T: Association of prune promptly. Correction of the undescended belly with cleft lip. Am J Med Genet testes by orchidopexy can be difficult in 1996, 61:79–80. these children because the testes are located 4. Straub E, Spranger J: Etiology and high in the abdomen. Reconstruction of the pathogenesis of the prune belly abdominal wall offers cosmetic and syndrome. Kidney Int 1981, 20:695– functional benefits.[5] 699. The prognosis ultimately depends on 5. Chapay S, Paramananda P, Subbarao the degree of pulmonary hypoplasia and PV : Eagle-Barrett syndrome A case renal dysplasia. The most common report. Journal of Clinical and complication is chronic renal failure that Diagnostic Research. 2012 February, occurs in 25–30% of cases. Many infants are Vol-6(1): 128-129. either stillborn or die within the first few 6. A.E. Smith, R.John. Campbell weeks of life from severe lung or kidney Urology-volm. 3. 8th edn problems, or a combination of congenital Saunders;2002; 2117- 24. anomalies. There are cases of this syndrome 7. Y.I.P. Felix, M.Richard. Pediac who survived into adult life after abdominal Urology 3rd ed, Butterworth reconstruction and urinary tract repair.[17] Heinemann; 1997, 618-20 . International Journal of Health Sciences & Research (www.ijhsr.org) 235 Vol.4; Issue: 4; April 2014 8. R.W. Parker. Absence of abdominal Sciences-Nepal, 2011,Vol-7,No-3,48- muscles in an infant Lancet 1835; 52. 1:1252. 14. Stephens FD, Gupta D. Pathogenesis 9. P.Garlinger, J.oppot. Prune belly of the prune belly syndrome. J Urol syndrome – possible genetic 1994;152:2328-31 implications. Birth Defects1974; 10: 15. Greskovich F. J. and Nyberg L. M., 173 “The prune belly syndrome: a review 10. D.F.Geary, L.B. MacLusky, B.M. of itsaetiology, defects, treatment Churchill. A broaderspectrm of and prognosis,” Journal of Urology. abnormalities in the Prune Belly 1988; 140(4):395-98. Syndrome. J . Uro 1986; 135, 324. 16. Reinberg Y, Shapiro E, Manivel JC, 11. K.A. Burbige, J. Amodio, W.E. Manley CB, Pettinato G, Gonzalez Berdon, T.W.Hensle. Prune belly R, “Prune belly syndrome in syndrome -35 yrs of experience . J females: a triad of abdominal Urol 1987; 137; 86-90. musculature deficiency and 12. E.J. Ives. The abdominal muscles anomalies of the urinary and genital deficiency triad syndrome: systems,” Journal of Experience with ten cases. Birth Paediatrics.1991;118(3):395-98. Defects
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