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).