CASE 9448 Published on 04.09.2011

Prune belly syndrome in a female patient

Section

Paediatric radiology

Case Type

Clinical Cases

Authors

Diogo Rocha 1; José Campos 1; Daniela Pinto 1; Teresa Fernandes 1; Rui Ramos 2; Anabela Braga 1.

1) Departamento de Radiologia, Hospital São João, Porto, Portugal.
2) Departamento de Radiologia, Hospital Distrital de Santarém, Portugal.
Patient

12 days, female

Categories
Area of Interest Kidney, Genital / Reproductive system female, Paediatric, Liver, Abdominal wall, Urinary Tract / Bladder ; Imaging Technique Ultrasound, Ultrasound-Colour Doppler, Nuclear medicine conventional
Clinical History
A female infant was born to a 39-year-old woman, at 32 weeks gestation, following dystocia labour (caesarean section + ventouse). The Apgar scores were 2, 5 and 7 and intubation was required for resuscitation. A protrusion/"mass" of elastic consistency was noted immediately in the right hypochondrium.
Imaging Findings
At birth a protrusion/"mass" in the right hypochondrium was immediately noted (Fig. 1). The abdominal ultrasound examination revealed a diffuse hypoplastic abdominal wall that was more pronounced on the right hypochondrium thus allowing herniation of the right hepatic lobe (Fig. 2) and causing the pseudo-mass visualised on physical examination. The renal ultrasound depicted an atrophic right kidney as well as a right ureterocele (Fig. 3). The pelvic ultrasound shows a large bladder as well as a hypoechoic outpouching communicating with the uppermost portion of the bladder, being suggestive of vesicourachal diverticulum (Fig. 4). Uterine anomalies (bicornuate uterus) were also present (Fig. 5).
A retrograde cystourethrography shows a large bladder volume as well as a small anterosuperior outpouching representing the vesicourachal diverticulum (Fig. 6).
The DMSA scan (Fig. 7) confirms a non-functioning right kidney.
A successful surgical repair of the right hypochondrium abdominal wall defect and right nephroureterectomy was performed (Fig. 8).
Discussion
The prune belly syndrome (PBS) is a uncommon congenital condition, initially described in males with hypoplasia of the abdominal wall muscles, bilateral cryptorchidism, and urinary tract anomalies [1]. This syndrome is also known as triad syndrome or Eagle-Barrett syndrome [2] and besides these three major findings it is also associated with a number of other respiratory, gastrointestinal, musculoskeletal, and cardiovascular anomalies [3].
There is a male predominance of 97% [2]. Deficient abdominal wall musculature and urinary tract and genital anomalies represent the female equivalent of the prune belly syndrome [4].
Two main mechanisms have been proposed in the pathophysiology: firstly, a primary defect of abdominal wall mesoderm formation during early embryogenesis; secondly, overdistension of the abdominal wall and urinary tract as a consequence of severe bladder outlet obstruction [2].
The initial assessment and diagnosis of an infant with PBS is influenced by whether it is suspected in the antenatal period, if so the antenatal assessment should include serial ultrasounds. A distended bladder, distended ureters, large kidneys, cryptorchidism and oligohydramnios may indicate PBS on antenatal ultrasound [6]. There might be a potential benefit of relieving urinary tract obstruction in the antenatal period, like improving growth and pulmonary development as well as renal and bladder function [7].
Clinical criteria of the PBS phenotype are wrinkled skin, thinness, and laxity of the abdominal wall, including the absence of palpable testes in males [2].
At ultrasound, dilated and tortuous ureters with bilateral hydronephrosis are common findings, kidneys usually show varying degrees of dysplasia and, sometimes, cystic changes, and the bladder is often enlarged and elongated. A voiding cystourethrogram (VCUG) is used to demonstrate a large, elongated bladder with an irregular contour and bilateral vesicoureteral reflux (VUR) [5] which is present in approximately 85% of cases [3]. An urachal diverticulum is frequently present. The DMSA scan has an important role in identifying small, poorly functioning or nonfunctioning dysplastic kidneys [2].
Treatment is primarily conservative but surgical management is sometimes required.
The prognosis depends on the degree of pulmonary hypoplasia and renal dysplasia.
Up to one-third of children with prune belly syndrome are stillborn or die in the first few months of life as a consequence of pulmonary hypoplasia [2].
The presentation of this case wishes to underline that, although it is a rare syndrome in females, the diagnosis should be considered in the presence of abdominal wall defect, and is crucial to diagnose the associated malformations for a timely therapeutic intervention.
Differential Diagnosis List
Prune belly syndrome
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Posterior urethral valve syndrome
Primary vesicourethral reflux
Urachal cyst
Final Diagnosis
Prune belly syndrome
Case information
URL: https://www.eurorad.org/case/9448
DOI: 10.1594/EURORAD/CASE.9448
ISSN: 1563-4086