Table of Contents  
CASE REPORT
Year : 2017  |  Volume : 10  |  Issue : 5  |  Page : 470-472  

Partial prune belly syndrome: A rare case report


Department of Pediatric Surgery, SMS Medical College, Jaipur, Rajasthan, India

Date of Submission16-Nov-2016
Date of Acceptance12-Jan-2017
Date of Web Publication14-Nov-2017

Correspondence Address:
Aditya Pratap Singh
Near The Mali Hostel, Main Bali Road, Falna, Pali - 306 116, Rajasthan
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/MJDRDYPU.MJDRDYPU_280_16

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  Abstract 


Prune belly syndrome (PBS) is characterized by deficient development of abdominal muscles that causes the skin of the abdomen to wrinkle like a prune, bilateral cryptorchidism, abnormalities of the urinary tract. The etiology of PBS is unclear and possible familial genetic inheritance was reported in some of the studies. We are presenting here a case with the absence of the muscle in the right side of the abdomen as hernia, thinning of the muscle on left side with bilateral cryptorchidism, and abnormalities of the urinary tract. It is the partial presentation of the PBS.

Keywords: Partial, prune belly, syndrome


How to cite this article:
Singh AP, Mathur V, Tanger R, Gupta AK. Partial prune belly syndrome: A rare case report. Med J DY Patil Univ 2017;10:470-2

How to cite this URL:
Singh AP, Mathur V, Tanger R, Gupta AK. Partial prune belly syndrome: A rare case report. Med J DY Patil Univ [serial online] 2017 [cited 2018 Nov 20];10:470-2. Available from: http://www.mjdrdypu.org/text.asp?2017/10/5/470/218186




  Introduction Top


Prune belly syndrome (PBS) can be easily diagnosed at birth when the abdominal wall has the typical lax and wrinkled appearance and bilateral cryptorchidism exits. With PBS, a spectrum of urinary tract involvement as well as abdominal wall involvement is seen. When a neonate displays overt clinical evidence of PBS, imaging of the urinary tract becomes imperative because urinary maldevelopment most significantly affects prognosis. A radiologist may be surprised by urologic findings typical for PBS in an infant or child who has no abdominal wall deficiency or cryptorchidism. The term “pseudo prune belly” has been used to describe such patient: normal abdominal wall, absent or incomplete cryptorchidism, and urinary tract like that seen with PBS.[1] Moreover, one might expect that for this group of patients, involvement of urinary tract and the clinical course will be less severe than that for patients with PBS. We report a case of male child with PBS because of its rarity and partial presentation.


  Case Report Top


A 1½-year-old male child presented with a history of swelling on crying over the right side of the abdomen since birth [Figure 1]a and [Figure 1]b. Baby had a history of the incontinence of the urine like symptoms. Otherwise, the abdomen was normal. On local examination, there was defect in the right side of the abdomen. On local examination, the phallus was large in size with bilateral undescended testis. Facial features were normal. Musculoskeletal system was normal. All routine blood investigations were in normal limits including complete blood counts, renal function test, and liver function test and serum electrolytes except hemoglobin 8.7 g%. X-ray chest was normal. There was no spinal defect in X-ray spine [Figure 2]. X-ray abdomen erect revealed the bowel loops present outside the abdomen through the defect [Figure 3]. Ultrasonography of the abdomen suggested bilateral hydroureteronephrosis with bilateral undescended testis. There was funnelling, unobstructed, dilated posterior urethra, smooth walled megacystis, and no reflex in micturating cystourethrography [Figure 4]. There was scaphoid variety megalourethra on retrograde urethrogram. Two-dimensional echocardiography was normal. Computed tomography urography suggested moderate bilateral hydroureteronephrosis, absent of the anterior abdominal wall on right side and thinning on left side, and thickened urinary bladder. Baby lost follow-up.
Figure 1: (a and b) Local examination of the abdomen

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Figure 2: X-ray spine anteroposterior and lateral

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Figure 3: X-ray abdomen erect

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Figure 4: Micturating cystourethrography

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  Discussion Top


The terminology of “pseudo prune” belly syndrome (PPBS) has been suggested and used to define females and males who do not have the complete triad of PBS.[2] The incidence of PBS is estimated to occur in 1:35,000–50,000 live births and 3%–5% of PBS are in females as PPBS.[3] It is characterized by deficient development of abdominal muscles that causes the skin of the abdomen to wrinkle like a prune, bilateral cryptorchidism, and abnormalities of the urinary tract such as bilateral gross hydronephrosis, megaureter, and megacystitis.[4]

PPBS is a term used to describe infants who do not fulfill the entire criteria of classic PBS, consisting of abdominal wall muscle deficiency or hypoplasia, urologic abnormality, and cryptorchidism.[5]

The exact etiology of PBS is not known; however, some of the studies reveal the possibility of genetic inheritance and possible association with trisomy 18 and 21.[4],[6] The prognosis of babies with PBS is poor with stillbirths and early infant deaths being common.

Physical findings that support the diagnosis include a draining umbilicus (patent urachus), penile abnormalities (megalourethra, urethral atresia), and musculoskeletal abnormalities (pectus carinatum, lower extremity abnormalities). Terms such as “incomplete prune belly syndrome” or “partial prune belly syndrome” have been used to describe children with cryptorchidism, mild urinary tract abnormalities, and mild or unilateral deficiency of abdominal musculature: deficient prune like abdominal wall and normal genitourinaryurinary system. Numerous reports have described children with only mild diastasis of the rectus abdominis musculature or abdominal walls that appear so normal or severe abdominal wall deficiency with normal urinary tract imaging that the syndrome goes unrecognized. The term “pseudo prune” or partial prune can then be applied to a patient once the urologic hallmarks of PBS are recognized on urologic imaging that is done for indications other than PBS.[1]

PBS has been associated with involving congenital malformations in a variety of different body systems with 75% of these cases associated with cardiopulmonary, gastrointestinal, and orthopedic abnormalities. Clubfoot is present in 45% of the cases, with pulmonary hypoplasia, Potter facies, imperforate anus, and arthrogryposis present in 45%, 27%, 27%, and 18% of cases, respectively.[7] Urologic abnormalities in PBS such as urethral hypoplasia or atresia are present in around 18% of cases and are independent risk factors for increased mortality.[8] PBS may also be associated with other urological and nonurological condition.

Although the primary molecular defect underlying PBS remains unclear, clinical studies have given rise to two main pathogenic hypotheses; these are the mesodermal defect hypothesis and the urethral obstruction malformation complex hypothesis. According to mesodermal defect hypothesis, aberrant development of the derivatives of the first lumbar myotome between 6 and 10 weeks of gestation leads to a patchy muscular deficiency or hypoplasia of the abdominal wall as well as to urinary tract abnormalities. The urethral obstruction malformation complex hypothesis [9] proposes that pressure atrophy of the abdominal wall muscles occurs when urethral obstruction leads to massive distension of the bladder and ureters. Bladder distension would also interfere with descent of the testes and thus be responsible for the bilateral cryptorchidism. More complex morphogenesis of the male urethra may be the possible cause of obstructive anomalies at several levels indicating the higher incidence of this syndrome in males. After clinical examination, ultrasonography of abdomen, plain X-ray, intravenous pyelography, and micturating cystourethrography can confirm the diagnosis.

Treatment of PBS primary involves surgical procedures to correct the undescended testes, reconstructing the urinary tract, and abdominoplasty.[7],[8] Due to a significant prevalence of end-stage renal disease in the prune belly population, kidney transplantation [10] has also been proposed as part of the management. There also appears to be an increased incidence of PBS in children from young mothers.[4]


  Conclusion Top


Absence or hypoplasia of the abdominal wall muscles is the main recognizable feature of PBS triad; however, it is imperative to be aware of its related hidden malformations, such as cryptorchidism, urinary, and pulmonary anomalies.

Radiologist should be aware that urologic findings typical of PBS may be seen in patients with normal abdominal walls and absent or incomplete cryptorchism.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Acknowledgment

We would like to thank Dr. Annu Bhandari, MD Radiology, Professor, SMS Medical College, Jaipur.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Duckett JW Jr. The prune belly syndrome. In: Kelalis PP, King LR, Belman AB, editors. Clinical Pediatric Urology. 3rd ed. Vol.2. Philadelphia: Saunders; 1976. p. 615-35.  Back to cited text no. 1
    
2.
Ghritlaharey RK, Gupta G, Kushwaha AS, Chanchlani R. Prune belly syndrome associated with incomplete VACTERAL. J Indian Assoc Pediatr Surg 2007;12:39-41.  Back to cited text no. 2
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3.
Lall A, Gupta DK. Prune belly syndrome. In: Gupta DK, editor. Text Book of Neonatal Surgery. 1st ed. New Delhi: Modern Publishers; 2000. p. 485-8.  Back to cited text no. 3
    
4.
Tagore KR, Ramineni AK, Vijaya Lakshmi AR, Bhavani N. Prune belly syndrome. Case Rep Pediatr 2011;2011:121736.  Back to cited text no. 4
    
5.
Ely B, Gustafson RA, Karnsakul W. Pseudoprune-belly syndrome in vertebral abnormalities, anal atresia, cardiac abnormalities, tracheoesophageal fistula and/or esophageal atresia, renal agenesis and dysplasia, and limb defects association. Clin Gastroenterol Hepatol 2008;6:e26.  Back to cited text no. 5
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6.
Ramasamy R, Haviland M, Woodard JR, Barone JG. Patterns of inheritance in familial prune belly syndrome. Urology 2005;65:1227.  Back to cited text no. 6
    
7.
Dénes FT, Arap MA, Giron AM, Silva FA, Arap S. Comprehensive surgical treatment of prune belly syndrome: 17 years' experience with 32 patients. Urology 2004;64:789-93.  Back to cited text no. 7
    
8.
Dénes FT, Lopes RI, Oliveira LM, Tavares A, Srougi M. Modified abdominoplasty for patients with the Prune Belly syndrome. Urology 2014;83:451-4.  Back to cited text no. 8
    
9.
Greskovich FJ 3rd, Nyberg LM Jr. The prune belly syndrome: A review of its etiology, defects, treatment and prognosis. J Urol 1988;140:707-12.  Back to cited text no. 9
    
10.
Kamel MH, Thomas AA, Al-Mufarrej FM, O'Kelly P, Hickey DP. Deceased-donor kidney transplantation in prune belly syndrome. Urology 2007;69:666-9.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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