Although Osler introduced the phrase "prune belly syndrome,” Frolich first described it in 1839. In 1950, Eagle and Barrett reported nine cases, who described the condition as Eagle-Barrett syndrome. Triad syndrome and abdominal musculature deficient syndrome are two other terms reported in the literature[1]. The phrase "prune belly" refers to the distinctively wrinkled appearance of the abdominal wall in newborns caused by a complete or partial lack of abdominal wall muscles[4].PBS is a diverse congenital disorder with a wide range of clinical manifestations and severities. The clinical manifestations range from stillbirth, primarily caused by significant renal and respiratory dysplasia, to an almost normal infant[1, 4]. Its prognosis depends on the severity of lung and renal dysfunction, and its etiology has not yet been determined[2, 4]. Rare female patients (1.1 per 100,000 [1]) have abdominal wall deficiencies and urinary system abnormalities without any gonadal anomalies[2].
Diagnosis of the syndrome should be considered during prenatal care with an inclusive examination and continuous prenatal follow-up[4]. Therefore, Woodard came up with a classification system for PBS based on prenatal and anatomical characteristics, with category 1 accounting for 20% of children born with PBS. Roughly, it comprises all neonates who die during the first few days of life due to acute renal failure and pulmonary hypoplasia. Additionally, this type is distinguished by oligohydramnios, urethral blockage, patent urachus, or club feet. Patients in category 2 (40%) showed typical PBS symptoms, and their prognosis depends on the degree of renal dysplasia. It is also characterized by hydroureteronephrosis, uropathy, kidney dysplasia, or the risk of urosepsis and azotemia. Patients in category 3 (40%) have modest uropathy, normal renal function, and few PBS clinical characteristics. [1, 2]
PBS associations include pulmonary hypoplasia (58%), cardiovascular (25%), gastrointestinal (24%), and musculoskeletal (23%) associations. The imperforate anus was observed in our case and in [5, 6, 16, 17]. [1]. However, (Lopes et al., 2021) state musculoskeletal association of (30%-45%) comes after the genitourinary tract and abdominal wall abnormalities. Frequent dimpling of the fibular side of the knees, talipes equinovarus (26%), hip dysplasia (5%), and congenital scoliosis (4%) [2], we report congenital scoliosis and dislocated hip in our patient. Two congenital scoliosis were reported in studies 16 and 20 [16, 20] and 4 cases with dislocated hips [5, 10, 13, 20]. The probable underlying cause for these abnormalities is the compressive effects of oligohydramnios. [2] Oligohydramnios indicates low urine output, poor renal function, and subsequently hypoplastic lung.[1] However, Lubinsky et al., 1983 and Hirose et al., 1995 reported polyhydramnios from the late second trimester until about weeks before delivery and normal amniotic fluid, respectively. The patients were free of the above abnormalities supporting the suggested underlying cause. [9, 15]
Most cases of PBS are sporadic and have normal karyotypes. However, several studies have identified the hereditary component of PBS[1, 2]. The strongest evidence has been found in several papers that have reported multiplex families with two or more PBS cases[2].In the past five to ten years, 14 genes have been identified as essential for normal embryonic bladder development and are responsible for the development of a mega-bladder [2]. Al Harbi et al, 2003 reported the first female down syndrome with female PBS; the unusual severity led them to suggest the presence of a modifier gene on chromosome 21[18]; however, there are not enough cases to associate the trisomy genes (13,18,21) with PBS [1]. PBS was also reported in a Turner syndrome patient by Lubinsky et al 1980, also it was severe, and the patient died after 11 days [8]. In our case, there were no chromosomal abnormalities; however, the techniques used do not routinely detect subtle or submicroscopic changes.
PBS is more common in twin pregnancies, whether they are monozygotic or dizygotic. Interestingly, PBS has been recorded in cases of monozygotic twins in both concordance and discordance, suggesting that inherited genetic changes alone cannot explain the pathogenesis of PBS[1]. Although most published twin cases have been discordant for PBS, there have been rare concordant twins with PBS[1]. Two discordant twins were found in the literature, one with PBS and another one healthy [6, 9].
PBS manifests antenatally by the US with features common to bladder outlet blockage, as in dorsal urethral valves or megacystis-megaureter syndrome. [2] A US must reveal a dilated thin-walled bladder, bilateral hydroureters, hydronephrosis, and oligohydramnios to diagnose PBS. [1] We and Morgan et al [5] observed intra-abdominal calcification. The urachal pseudodiverticulum is usually 2–8 times its normal size and present at birth in 25%-30% of cases like in our case with patent urachus. [2]
PBS patients require a multidisciplinary healthcare approach to aid these children to thrive, gain weight, and be prepared for urological surgery if needed. Orthopedic and psychiatric evaluation and treatment might be necessary for older children. Therefore, individualization of care is recommended, because some patients require abdominal and urinary tract reconstruction while others require as little as bilateral orchiopexies. Up to 40% of patients, particularly those with impaired renal function at initial evaluation, develop chronic renal failure during childhood or adolescence [2]. Perinatal mortality rates for PBS are between 10% and 25%. This is primarily related to the degree of pulmonary hypoplasia, comorbid conditions, and prematurity [1]. Four patients died within the first day [5, 6, 10, 26] and 7 patients in the first month [5, 6, 8, 10, 13, 18, 26]; however, our patient and 8 other patients were alive at the time of reporting [12, 13, 16, 17, 19, 21–23]. To our knowledge, this is the first case of PBS in a female patient after IVF