| Abstract|| |
Prune belly syndrome (PBS) is a rare congenital disorder affecting 2.5 to 3.8/100,000 live births worldwide. Our objective of this report is to describe clinical manifestation, laboratory, and radiological characteristics of PBS in our patients, to highlight the limitations to offering appropriate patient care due to parents demanding discharge against medical advice and the need to increase the awareness regarding this rare disease. We report three cases; all referred after birth with lax abdominal wall, congenital anomalies of kidney, and urinary tract. One of the patients had an absent right foot. They all had cryptorchidism, and in one, there was deranged renal function. The reported cases had both medical and radiological interventions to varying degrees. They all had an abdominal ultrasound which revealed varying degrees of hydronephrosis, hydroureters, and bladder changes. Voiding cystourethrogram showed vesicoureteric reflux in one of the reported cases. Urinary tract infections were appropriately treated with antibiotics based on sensitivity. PBS management in our setting remains a challenge because of strong cultural beliefs, and high rate of discharge against medical advice. Focus should be on parent education, early diagnosis, and multidisciplinary management approach.
|How to cite this article:|
Solarin AU, Disu EA, Gbelee HO, Animasahaun AB, Aremu OE, Ogbuokiri E, Ogunnaike GO, Oladimeji A. Three cases of prune belly syndrome at the Lagos State University Teaching Hospital, Ikeja. Saudi J Kidney Dis Transpl 2018;29:178-84
|How to cite this URL:|
Solarin AU, Disu EA, Gbelee HO, Animasahaun AB, Aremu OE, Ogbuokiri E, Ogunnaike GO, Oladimeji A. Three cases of prune belly syndrome at the Lagos State University Teaching Hospital, Ikeja. Saudi J Kidney Dis Transpl [serial online] 2018 [cited 2021 Sep 28];29:178-84. Available from: https://www.sjkdt.org/text.asp?2018/29/1/178/225190
| Introduction|| |
Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome or Obrinsky syndrome, is a congenital disorder affecting 2.5 to 3.8/100,000 live births worldwide., The true incidence of PBS in Nigeria is not known due to under reporting, although there has been a few case reports from some centers in Nigeria.
It is mainly found among males though not exclusively. It is a rare congenital malformation of unknown etiology, characterized by abnormalities of urinary tract, deficiency of abdominal wall musculature, and bilateral cryptorchidism in males. Its coexistence with other anomalies such as, cardiopulmonary, gastrointestinal, and musculoskeletal is well documented.
The etiology of PBS is largely unknown, although there are several theories postulated. Familial and genetic basis have been proposed with some validation from many case reports,,,,,, but a few have been nonsupportive publications. A recent molecular discovery of hepatocyte nuclear factor 1 beta (HNF-1β) gives the genetic basis more validation.
PBS is associated with extreme morbidities, as 50% have varying degrees of urinary pathology during their lifetime, particularly renal failure which occurs in 67% of them. This is a report of the clinical profile, and the peculiarities of the cases managed in our center compares with cases reported in some other centers in Nigeria.
| Case Reports|| |
A. K, male, term, second of a set of twins, delivered at 36 weeks gestation by spontaneous vertex delivery (SVD) on November 27, 15 at a secondary level facility. Both parents have primary education, the mother is a petty trader and father is a driver. The patient was noticed to have wrinkled abdomen, bilateral undescended testes, and poor urine stream at birth. Ultrasound done at 20 weeks gestation had revealed hydronephrosis.
The patient was discharged against medical advice but presented again referred from a secondary level center because of poor urine output, diarrhea, and vomiting at three months of life. He has a background history of poor urinary stream since birth with postvoidal dribbling. Examination revealed his weight was below the 3rd percentile for age, as well as that of the lax abdominal wall, bilateral cryptorchidism, and ballotable right kidney. Blood pressure was normal. Urethral catheterization was done, and urine output was 1.7–2.7 mL/kg/h.
Urinalysis with microscopy showed turbid urine, 4+ leukocytes, 1+ blood, 1+ protein, and 18–20 pus cells, 0–2 red cells. He was managed for septicemia with intravenous antibiotics.
Abdominal ultrasound (USS) showed hydronephrosis, hydroureter, and bladder wall thickening. Voiding cystourethrogram (VCUG) showed bilateral hydronephrosis and Grade 4 vesico-ureteric reflux (VUR).
Electrolyte, urea, and creatinine (EUCr) revealed hyponatremia, metabolic acidosis, and azotemia (Na+ 124 mmol/L, K+ 5.2 mmol/L, HCO3-9 mmol/L, Cl-98 mmol/L, Urea 18.3 mg/dL, creatinine 125 μmol/L) which were corrected appropriately. Repeat electrolytes showed sodium of 133 mmol/L, potassium of 5.8 mmol/L, bicarbonate of 21 mmol/L, chloride 100 mmol/L, urea 8.4 mmol/L, and creatinine of 83 μmol/L. Electrocardiogram showed a structurally normal heart.
Further management included intermittent catheterization which the mother is doing, prophylactic antibiotics with amoxicillin daily, follow-up by pediatric surgeons and pediatric nephrologist.
Mother was counseled on need for intermittent catheterization, orchidopexy, and long-term follow-up.
|Figure 2: The control film of the micturiting cystourethrogram shows diasthesis of the pubic symphysis.|
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Baby O, male, delivered at term through SVD at a maternity center. Parents are of low socio-economic level (mother is a seamstress with secondary level of education and father is a policeman with secondary level of education). Birth weight was unknown. He presented with wrinkled abdomen and absence of the right foot at birth. Ultrasound during pregnancy revealed no abnormality. Examination revealed lax anterior abdominal wall, bimanually palpable and ballotable kidneys, bilateral cryptorchidism, and absent right foot.
Abdominal ultrasound revealed bilateral hydroureteronephrosis and megaureters. Electrolytes and urea were normal (Na+ 136 mmol/L, K+ 5.4 mmol/L, HCO3-18 mmol/L, Cl-106 mmol/L, Urea 34 mg/dL).
Parents, however, got the child discharged against medical advice before further review could be instituted.
Baby I, male, delivered at term through SVD at a church clinic, birth was weight 3.5 Kg. He presented at 20 h of age with a history of poor cry at birth, abdominal distension, inability to pass urine, and vomiting since birth. Labor was prolonged and positive history of prolonged rupture of membrane > 48 h. Apgar scores were not documented. There was a history of second trimester USS finding of oligohydramnios, and mother ingesting alcohol during the first trimester. He passed meconium within 24 h of life.
Examination findings were that of nonuniformly distended abdomen with wrinkled anterior abdominal wall, palpable bladder, and bilaterally ballotable kidneys. The right testis was absent, but the left testis was palpable in the scrotal sac.
|Figure 3: a and b: The full bladder film shows a well opacified urinary bladder with an irregular outline.|
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|Figure 4: Micturition shows normal caliber anterior and posterior urethra with a smooth outline.|
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|Figure 5: There is reflux of contrast into a grossly dilated left ureter up to the distal half. Impression: grade 1 vesicoureteric reflux with a grossly dilated left ureter.|
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Abdominal ultrasound revealed bilateral hydronephrosis with dilated ureters. The left kidney measured 10.27 cm × 6.19 cm while the right 6.04 cm × 4.52 cm. The dilated ureters were traced entering the bladder. The bladder was enlarged with echogenic debris Urea and creatinine were elevated, 22.1 mmol/L and 385 umol/L, respectively, other electrolyte findings included hyponatremia (132 mmol/L) and metabolic acidosis (bicarbonate 19 mmol/L).
He was catheterized and left on continuous drainage after review by the urology team.
Parents, however, discharged against medical advice due to inability to do further investigations requested.
| Discussion|| |
The etiopathogenesis of PBS is largely unknown; however, there are theoretical postulations as well as familial and genetic suspicions. There are controversies regarding these postulations, as some reported cases have validated them while some other publications disapproved them. These theories include: abdominal mesodermal maldevelopment theory,, which occur between 6th and 10th week of gestation; it is also known as the theory of mesodermal arrest leading to abnormal development of the anterior abdominal wall and urinary tract musculature. This is the prevailing theory which has explained the involvement of the genitourinary tract, the testis, and the abdominal wall., The second theory involves in utero urethral obstruction malformation complex where a transient obstruction of the proximal urethra (at the junction of the glandular and penile urethra) leads to dilated urinary tract and distended abdomen. This explains the high incidence of megalourethra observed in cases of PBS.
Familial and genetic components were suspected because of concordance rate in twins, monozygotic male twin case reports., The occurrence rate of PBS in twins can be up to 4%. One of our cases is a twin, and the other twin is normal. However, there has been a reported case occurring in monozygotic twins in northern part of Nigeria as well as some reported cases with familial component, in which siblings were affected. A higher incidence in males suggests the influence of sex-linked genetic factor, although some have suggested an autosomal recessive mode of inheritance. Recently, finding of deletion of HNF-1β, a transcription factor required for visceral endoderm specification during development and is expressed in many tissues including mesonephric duct derivatives.
Several risk factors have been implicated in PBS. Some of these factors which include; poor antenatal attendance, ingestion of herbal concoction/alcohol, twining, low level of maternal education as well as low socioeconomic class were identified in this case series. Similarly, Osaghae et al in their case report also identified the ingestion of herbal concoction in pregnancy, low maternal level of education, and young maternal age as possible risk factors in developing PBS.
Although the majority of the cases reported in Nigeria were male, there were a few cases involving female children., A study done by Ekwunife et al in Nnewi, Nigeria reported two cases among female children and they were noted to have associated chromosomal abnormalities.
Anomalies of the kidney and urinary tract seen in our cases include bilateral hydronephrosis, hydroureter, grade four vesicoureteric reflux, dilated ureter, and bladder wall thickening. These anomalies are the most common associated congenital anomalies of the kidney and urinary tract (CAKUT) documented in most of the reported cases worldwide, but with varying severity depending on some factors which are; in utero time of onset of anomaly/obstruction, prompt or delayed prenatal diagnosis and intervention. A study done by Biard et al showed a lesser degree in the severity of associated CAKUT seen in their subjects because of prompt prenatal diagnosis and intervention, leading to reduced morbidity and better outcome. Another case report by Galati et al of a prenatal intervention done on a fetus with severe PBS showed a favorable response following the intervention.
Berdon et al classified PBS into three groups. Group I presents with Potter's syndrome (severe oligohydramnios) and have severe pulmonary hypoplasia and renal dysplasia as well as varying degree of limb involvement due to intrauterine compression effect. They die shortly after because of respiratory failure. Group II patients also have severe respiratory and urinary tract problems; however, both systems are not so severely affected that the child succumbs at birth. Group III patients typically present because of the abnormal appearance of the abdominal wall or for undescended testes. Imaging demonstrates a typically abnormal urinary tract. The appearance of the abdominal wall does not correlate at all with the severity of urinary tract abnormalities. In the review article, the authors noted that those with severe lack of abdominal musculature only had urinary stasis while those with mild abdominal wall involvement had severe bilateral ureteric obstruction and borderline renal function, this was not, however, the findings documented by Ekwunife et al.
One of the cases in our report had prenatal diagnosis but no intervention. This may be because of limitations in adequate expertise, or lack of facilities for such prenatal interventions or the minimal success achieved with such interventions even in the best of centers. The other cases in our report were not picked up prenatally despite antenatal ultrasonography done in pregnancy. This largely may be due to the expertise of the sonographer and or the sensitivity of the ultrasound machine used.
Management includes initial stabilization of respiratory system, especially those in Group I and II as classified by Berdon. Those that show features of bell-shaped chest and compression deformities of the lower extremities are as result of maternal oligohydramnios and indicate poor renal function or urinary outflow obstruction. The obstructed patients require urinary drainage. Investigations such as urine microscopy, culture and sensitivity, abdominopelvic ultrasonography, intravenous urogram (IVU) or mercaptoacetyltriglycine 3 (MAG 3) renogram, micturating, or VCUG could be requested. A radiographic VCUG is valuable in determining the presence of VUR, the shape and emptying capacity of the bladder, the appearance of the urethra, and the presence of urethral obstruction. Similar information can be obtained from either the IVU or MAG three renogram. Immediate management of one of the cases in our review included treatment of urinary tract infection, correction of the electrolyte imbalance, continuous drainage of urine by urethral catheterization. Currently, management included continued clean intermittent catheterization in view of incomplete bladder emptying, antibiotic prophylaxis with amoxicillin, orchidopexy, early identification of urinary tract infection and prompt treatment, continued multidisciplinary follow-ups by urology and pediatric nephrology.
The other cases however got discharged against medical advice despite adequate counseling before further investigations and interventions could be done. This is due to financial constraints and sociocultural beliefs that the affected children may be signs of bad omen.
Prenatal diagnosis and intervention is usually instrumental to better outcome in PBS.,, This is because it allows prenatal intervention where possible as well as proper counseling and planning of the management after delivery. Prenatal counseling may in turn prevent postnatal discharge against medical advice because they are well informed and management options would have been outlined.
A current review highlighted errors in antenatal ultrasonography in the 1980s that PBS has often been diagnosed and misdiagnosed as posterior urethral valves (PUV). This had necessitated initially unnecessary antenatal interventions in many PBS babies since ultra sonographers were unable to distinguish them from PUV. Hydronephrosis, megaureters, and a thick-walled bladder are seen in both conditions, however, there are differences. In PBS, the abdominal wall tends to be lax and the urinary bladder is massive, whereas in PUV, the abdominal wall may be distended but it is not lax and the thick-walled bladder is small. In addition, the posterior urethra in PBS is dilated, elongated and “heart-shaped” while in PUV the bladder and urethra have a “key-hole” or “pear-shaped” appearance.
It is noteworthy that even though PBS was diagnosed in utero, the gains of vesicoamniotic shunts were quite minimal because of the erroneous impression that the urinary tract was obstructed. Shunting did not improve their status.
The three cases in our report were seen within one year. This may be a pointer to a probable increasing incidence of PBS in our environment. Hence, there is a need for increase awareness, prompt diagnosis, prompt, and appropriate interventions.
| Conclusion|| |
PBS management in our setting remains a challenge because of strong cultural beliefs and high rate of discharge against medical advice. Focus should be on parent education, early diagnosis, and multidisciplinary management approach.
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Dr. Adaobi U Solarin
Department of Pediatrics, Lagos State University Teaching Hospital, Ikeja, Lagos
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