Introduction
Prune belly syndrome (PBS), also named Eagle-Barrett syndrome, is a rare multisystem congenital disorder with a triad presentation of urinary tract dilation, deficient abdominal wall musculature and bilateral undescended testes (1–3). There is a broad spectrum of severity of the condition, with some patients not surviving the neonatal period to others with minimal abnormalities. PBS affects 3.8 cases per 100,000 live births and is more common in infants of African descent (3). The male-to-female ratio is reported to be 5:1 and females with PBS have abdominal wall muscle deficiency and urinary tract dilation, but no gonadal anomalies (3,4). The etiology of PBS is unknown although no specific gene has been identified for PBS, certain genes have emerged as candidates HNF1β is a transcription factor and CHRM3, which encodes the M3 muscarinic acetylcholine receptor. Most cases of PBS occur sporadically. Currently, there are no large cohort investigations regarding the genetics of PBS, and therefore, the genetic basis for PBS remains unknown (1,3). It is estimated to affect 1 in 30,000-40000 live births worldwide with more than 90% of the cases occurring in boys (2,5).
Children with prune belly syndrome presents with renal, ureteral and urethral abnormalities with complications ranging from urinary tract infections to chronic kidney disease, lack of abdominal muscles leads to a poor cough mechanism which in turn leads to increased pulmonary secretions. The weak abdominal wall muscles also lead to constipation (5–7). The prognosis may vary from stillbirth to a normal life expectancy depending on the degree of pulmonary and renal compromise; mortality is 20% within first month and 50% within 2 years (5).
The term “pseudo prune belly” has been used to describe a patient with normal abdominal wall, absent or incomplete cryptorchidism and urinary tract like that seen with PBS. 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 (1).