Autopsy and Case Reports
https://www.autopsyandcasereports.org/article/doi/10.4322/acr.2014.037
Autopsy and Case Reports
Article / Autopsy Case Report

Prune-belly syndrome: an autopsy case report

Marcela Arruda Pereira Silva Vasconcelos; Patricia Picciarelli de Lima

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Abstract

Prune-belly syndrome (PBS) is a rare congenital anomaly characterized by a spectrum of mild-to-severe presentations of urinary tract malformations, deficient abdominal wall musculature, and cryptorchidism in male newborns or genital abnormalities in the female newborns. Currently, antenatal diagnosis is feasible with ultrasound examination, and treatment is based on case report experience. More recently, intrauterine management has been undertaken with encouraging results. The authors report a case of PBS diagnosed at the seventeenth gestation week, when ultrasonographic examination revealed the presence of ascites, distended bladder, thickened bladder wall and posterior urethral valve. The fetus was submitted to an intrauterine intervention at the nineteenth gestational week. Delivery occurred at 34 weeks of gestation and the newborn examination was consistent with PBS. On the second day of life, the newborn was submitted to abdominoplasty, colostomy, and orchiopexy. However, the outcome was unfavorable with respiratory failure and death on the fifteenth day of life. The autopsy confirmed the diagnosis of PBS, but the immediate cause of death was attributed to aspiration pneumonia.
 

Keywords

Prune Belly Syndrome, Cryptorchidism, Urologic Diseases

References

Hassett S, Smith GH, Holland AJ. Prune belly syndrome. Pediatr Surg Int. 2012;28(3):219-28. [https://doi.org/10.1007/s00383-011-3046-6]. [PMID:22198807]

Osler W. Congenital absence of the abdominal muscle with distended and hypertrophied urinary bladder. Bull Johns Hopkins Hosp. 1901;12:331-3.

Tonni G, Ida V, Alessandro V, Bonasoni MP. Prune-belly syndrome: case series and review of the literature regarding early prenatal diagnosis, epidemiology, genetic factors, treatment, and prognosis. Fetal Pediatr Pathol. 2013;31(1):13-24. [https://doi.org/10.3109/15513815.2012.659411]. [PMID:22506933]

Woods AG, Brandon DH. Prune belly syndrome. A focused physical assessment. Adv Neonatal Care. 2007;7(3):132-43, quiz 144-5. [https://doi.org/10.1097/01.ANC.0000278211.95767.05]. [PMID:17844777]

Ekwunife OH, Ugwu JO, Modekwe V. Prune belly syndrome: early management outcome of nine consecutive cases. Niger J Clin Pract. 2014;17(4):425-30. [https://doi.org/10.4103/1119-3077.134012]. [PMID:24909464]

Cazorla E, Ruiz F, Abad A, Monleon J. Prune belly syndrome: early antenatal diagnosis. Eur J Obstet Gynecol Reprod Biol. 1997;72(1):31-3. [https://doi.org/10.1016/S0301-2115(96)02664-4]. [PMID:9076419]

Darmon JC, Janky E, Couchy B. [Prune Belly syndrome. A case of recurrence]. Rev Fr Gynecol Obstet. 1992;87(3):151-4.

Granberg CF, Harrison SM, Dajusta D, et al. Genetic basis of prune belly syndrome: screening for HNF1β gene. J Urol. 2012;187(1):272-8. [https://doi.org/10.1016/j.juro.2011.09.036]. [PMID:22114815]

Xu W, Wu H, Wang DX, Mu ZH. A case of prune belly syndrome. Pediatr Neonatol. 2013;xx:1-4. [PMID:23639747].

Soylu H, Kutlu NO, Sönmezgöz E, Bükte Y, Ozgen U, Akinci A. Prune-belly syndrome and pulmonary hypoplasia: a potential cause of death. Pediatr Int. 2001;43(2):172-5. [https://doi.org/10.1046/j.1442-200x.2001.01347.x]. [PMID:11285073]

Sutherland RS, Mevorach RA, Kogan BA. The prune-belly syndrome: current insights. Pediatr Nephrol. 1995;9(6):770-8. [https://doi.org/10.1007/BF00868740]. [PMID:8747124]

Ramasamy R, Haviland M, Woodard JR, Barone JG. Patterns of inheritance in familial prune belly syndrome. Urology. 2005;65(6):1227. [https://doi.org/10.1016/j.urology.2004.12.050]. [PMID:15922438]

Murray PJ, Thomas K, Mulgrew CJ, Ellard S, Edghill EL, Bingham C. Whole gene deletion of the hepatocyte nuclear factor-1beta gene in a patient with the prune-belly syndrome. Nephrol Dial Transplant. 2008;23(7):2412-5. [https://doi.org/10.1093/ndt/gfn169]. [PMID:18411231]

Haeri S, Devers PL, Kaiser-Rogers KA, et al. Deletion of hepatocyte nuclear factor-1-beta in an infant with prune belly syndrome. Am J Perinatol. 2010;27(7):559-63. [https://doi.org/10.1055/s-0030-1248943]. [PMID:20175044]

Guillén DR, Lowichik A, Schneider NR, Cohen DS, Garcia S, Zinn AR. Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST. Am J Med Genet. 1997;70(1):32-6. [https://doi.org/10.1002/(SICI)1096-8628(19970502)70:1<32::AID-AJMG7>3.0.CO;2-T]. [PMID:9129738]

Beckmann H, Rehder H, Rauskolb R. Prune belly sequence associated with trisomy 13. Am J Med Genet. 1984;19(3):603-4. [https://doi.org/10.1002/ajmg.1320190326]. [PMID:6507505]

Baird PA, Sadovnick AD, Opitz JM. Prune belly anomaly in Down syndrome. Am J Med Genet. 1987;26(3):747-8. [https://doi.org/10.1002/ajmg.1320260332]. [PMID:2952008]

Gonzalez R, Reinberg Y, Burke B, Wells T, Vernier RL. Early bladder outlet obstruction in fetal lambs induces renal dysplasia and the prune-belly syndrome. J Pediatr Surg. 1990;25(3):342-5. [https://doi.org/10.1016/0022-3468(90)90083-L]. [PMID:2138219]

Hutson JM, Beasley SW. Aetiology of the prune belly syndrome. Aust Paediatr J. 1987;23(5):309-10. [PMID:3439944].

Stephens FD, Gupta D. Pathogenesis of the prune belly syndrome. J Urol. 1994;152(6 Pt 2):2328-31. [PMID:7966734].

Ives EJ. The abdominal muscle deficiency triad syndrome—experience with ten cases. Birth Defects Orig Artic Ser. 1974;10(4):127-35. [PMID:4283493].

Shimada K, Hosokawa S, Tohda A, Matsumoto F, Johnin K. Histology of the fetal prune belly syndrome with reference to the efficacy of prenatal decompression. Int J Urol. 2000;7(5):161-6. [https://doi.org/10.1046/j.1442-2042.2000.00159.x]. [PMID:10830822]

Okulski TA. The prenatal diagnosis of lower urinary tract obstruction using B scan ultrasound: a case report. J Clin Ultrasound. 1977;5(4):268-70. [https://doi.org/10.1002/jcu.1870050412]. [PMID:142096]

Quintero RA, Johnson MP, Romero R, et al. In-utero percutaneous cystoscopy in the management of fetal lower obstructive uropathy. Lancet. 1995;346(8974):537-40. [https://doi.org/10.1016/S0140-6736(95)91381-5]. [PMID:7658779]

Perez-Brayfield MR, Gatti J, Berkman S, et al. In utero intervention in a patient with prunebelly syndrome and severe urethral hypoplasia. Urology. 2001;57(6):1178.

Quintero RA, Hume R, Smith C, et al. Percutaneous fetal cystoscopy and endoscopic fulguration of posterior urethral valves. Am J Obstet Gynecol. 1995;172(1):206-9. [https://doi.org/10.1016/0002-9378(95)90115-9]. [PMID:7847537]

Byon M, Kim GJ. Prune-belly syndrome detected by ultrasound in the first trimester and the usefulness of vesicocentesis as a modality of treatment. Obstet Gynecol Sci. 2013;56(4):265-8. [https://doi.org/10.5468/ogs.2013.56.4.265]. [PMID:24328013]

Morris RK, Ruano R, Kilby MD. Effectiveness of fetal cystoscopy as a diagnostic and therapeutic intervention for lower urinary tract obstruction: a systematic review. Ultrasound Obstet Gynecol. 2011;37(6):629-37. [https://doi.org/10.1002/uog.8981]. [PMID:21374748]

Ruano R, Yoshisaki CT, Salustiano EMA, Giron AM, Srougi M, Zugaib M. Early fetal cystoscopy for first-trimester severe megacystis. Ultrasound Obstet Gynecol. 2011;37(6):696-701. [https://doi.org/10.1002/uog.8963]. [PMID:21337440]


 


Publication date:
01/13/2016

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