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| Year : 2012 | Volume
: 23
| Issue : 2 | Page : 338-342 |
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| Familial prune belly syndrome in a Nigerian family |
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Michael Okoeguale Ibadin1, Ade Adeyekun Ademola2, Gabriel Egberue Ofovwe1
1 Department of Child Health, University of Benin Teaching Hospital, Benin City, Nigeria
2 Department of Radiology, University of Benin Teaching Hospital, Benin City, Nigeria
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| Date of Web Publication | 28-Feb-2012 |
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 Abstract | | |
A case of Prune Belly Syndrome in an infant, the second in a middle class family with both parents in their late thirties, is presented because of its rarity. Constraints in the management are discussed and relevant literature reviewed. This is intended to awaken interest and sharpen indices of suspicion that would facilitate early diagnosis, enhance management, and mitigate prejudices.
How to cite this article:
Ibadin MO, Ademola AA, Ofovwe GE. Familial prune belly syndrome in a Nigerian family. Saudi J Kidney Dis Transpl 2012;23:338-42 |
How to cite this URL:
Ibadin MO, Ademola AA, Ofovwe GE. Familial prune belly syndrome in a Nigerian family. Saudi J Kidney Dis Transpl [serial online] 2012 [cited 2022 Jan 24];23:338-42. Available from: https://www.sjkdt.org/text.asp?2012/23/2/338/93170 |
| Introduction | |  |
The Prune Belly Syndrome (PBS) is a rare (0.25-0.3/10,000 live births) congenital disorder, more common in males (20:1), and consists of deficiency of anterior abdominal wall muscles, cryptorchidism, and genito-urinary malforma-tions. [1] The condition was first described by Frolich in 1839. [2] A variety of eponyms are used for the syndrome, including Frolich's syndrome, Eagle-Barret syndrome, Obrunsky's syndrome, and Frolich-Obrunsky syndrome. [3] The condition is common in children of young mothers and is known to occur in association with other syndromes/morbidities including Down's syndrome. [4],[5] We herewith describe a child with the PBS, who in addition had a sibling with the same anomaly.
| Case Report | | |
A.J. is an 11-month-old male infant who was first seen at six weeks of age following referral from a private health facility in Warri, Delta State. He had presented at the private facility with complaints of lax anterior abdominal wall first noticed at birth. Two days later, he had passage of bloody urine. On the day of presentation, urine volume was said to have diminished.
He is the product of a full-term pregnancy, delivered via spontaneous vertex delivery. Mother had antenatal care at the referring clinic. Ultrasound done at 24 weeks of gestation suggested multiple fetal anomalies, significant oligohydramnios, and a cystic mass measuring 6.9 × 7.3 cm arising from the abdomen. Pregnancy was subsequently carried to term. The perinatal period was essentially uneventful.
Laxity of the anterior abdominal wall was noticed at birth and the baby was subsequently referred to the University of Benin Teaching Hospital (UBTH), but presented six weeks later. Two days prior to presentation, the patient was noticed to be passing bloody urine. This was usually followed by passage of purulent material per urethra. At the same time, the child was noticed to be wriggling and writhing, as if in pain, anytime he passed urine. A day prior to presentation, urine output was found to have diminished as the mother was no longer changing the diapers as frequently as before. There was, however, no fever. Urine stream remained normal for gender. There was a positive history of similar presentation in an older sibling who died within one week of life.
Examination revealed no abnormal facies. Weight was appropriate for age. The major findings were on abdominal examination; there was laxity of the anterior abdominal wall with visible peristaltic waves and bilateral flank fullness. Masses were felt in both lumbar regions. They were firm, non-tender, smooth surfaced, and not attached to the overlying structures. The scrotal sacs were empty. Other systems were essentially normal.
Abdominal ultrasound revealed enlargement of both kidneys with marked calyceal dilatation and cortical loss. The kidneys contained multiple low-level echoes suggestive of pyo-nephrosis. The urinary bladder was moderately dilated with wall thickening and signs of chronic outlet obstruction. No renal stones or solid masses were noticed.
The conclusions were that the child had pyo-nephrosis in both kidneys, associated with moderately obstructed urinary bladder which also showed signs of pus collection, most likely due to bladder neck obstruction, rather than obstruction from posterior urethral valve.
Echocardiogram revealed slight cardiomegaly with a large sub-aortic ventricular septal defect (VSD). There was hypertrophy of both ventricles and an over-riding aorta. In addition, there was a narrowed right ventricular outflow tract and a markedly thickened pericardium. There was, however, no evidence of ongoing pericardial disease. These findings suggested a variant of Tetralogy of Fallot (TOF). Chest radiograph showed normal lung fields.
Urine examination showed numerous pus cells and growth of Escherichia More Details coli that was sensitive to clavulanic acid potentiated amoxi-cillin, gentamycin, nalidixic acid, and nitro-furantoin. Serum creatinine was 1.1 mg/dL and was slightly elevated for his age. The serum electrolytes and urea were within normal range. The child was subsequently commenced on intravenous clavulanic acid potentiated amo-xicillin which he received for two weeks. Repeat urine examination was normal. His clinical state improved steadily and he remained afebrile over the remaining two weeks of admission. Urinary output also improved following catheterization. He was subsequently discharged home on a urinary antiseptic, reconstituted nitrofurantoin, at 2 mg/kg 12-hourly.
Abdominal ultrasound was repeated three months later. The findings were essentially those of bilateral hydronephrosis with marked reduction in the renal cortex associated with dilatation of the bladder and features suggestive of neurogenic obstruction. No renal stones or masses were noted. At this point, the conclusions were those of bilateral hydronephrosis occurring in association with a neurogenic bladder.
Micturating cystourethrogram revealed a large capacity, rather pine-shaped urinary bladder in a child with gross abdominal distension and urinary incontinence. The appearance was in tandem with that of a neurogenic bladder. All attempts to outline the urethra failed in spite of all manipulations although there were no signs of a posterior urethra valve or any specific intra-vesical abnormality.
Subsequently, the child maintained a relatively stable health and weighed 8 kg (80% of expected) at eleven months of age. Urine output remained normal as did the blood urea, serum electrolytes, and creatinine. As part of the initial management options, he was billed for evaluation by the pediatric surgical and urology teams. The appointments were, however, not kept and he has since been lost to follow-up.
| Discussion | | |
The exact etiology of the PBS is not known, but several theories have been advanced to explain the anomaly. They include the following.
Abdominal mesodermal maldevelopment
Developmental arrest of the mesodermal elements leads to severe abdominal laxity and defective development of the urinary tract. However, this would not explain the extensive malformations noted in the uro-genital and other systems. [1]
Urethral obstruction malformation complex
This theory, which appears more plausible, proposes that pressure atrophy of the abdominal wall muscles occurs when urethral obstruction leads to massive distension of the bladder and ureters. Bladder distension interferes with descent of the testes and may be responsible for bilateral cryptorchidism. The mechanism responsible for the urinary tract dilatation and distension is a flap valve mechanism that results from hypoplasia of the stro-mal and epithelial elements of the prostatic urethra. The hypoplasia of these elements leads to an underlying weakness and subsequent sacculation of the prostatic urethra. [1]
Genetics
Genetic defect may be responsible for the malformation because of male predominance. X-linked [6] and a polygenic mode of inheritance have also been proposed. [7]
The PBS should be suspected in fetuses with very large abdominal masses. Typically, features such as bladder obstruction caused by posterior urethral valve, urethral agenesis, and ovarian cyst may be found. [1] Oligohydramnios with consequent pulmonary hypoplasia and urinary ascitis could also occur. Other less commonly encountered features that could affect other systems including cardiovascular, musculoskeletal, pulmonary, and gastrointestinal are congenital cystic adenomatoid malformation of the lungs, Potter facies, gastric dilation, short bowel, microileum, microcolon, malrotation of the intestine, imperforate anus, arthrogryposis, and club foot (over 75% of cases have extra-urinary anomalies). [7] However, PBS should be distinguished from mega-cystis, other causes of urethral obstruction, primary vesico-ureteric reflux, neurogenic bladder, and megacystis microcolon intestinal hypo-peristalsis (MMIHS) syndrome. [8] Prognosis is largely variable but depends on the degree of pulmonary hypoplasia, urogenital malformation, and attendant level of renal compromise. [1] Renal failure could occur early. Over 60% of the newborns would die in the first week of life due to pulmonary hypoplasia. Mild urinary tract distension is associated with better prog-nosis. [1]
Management approach is multidimensional. [1] Emphasis is on early detection and definitive interventions. This would incorporate the following:
- Sonographic monitoring of the urinary tract and amniotic fluid throughout pregnancy. A vesico-amniotic shunt may be necessary in severe cases.
- Percutaneous placement of an indwelling catheter for urinary diversion where this is feasible.
- Urinary tract decompression in the early second trimester which is desirable to reduce ongoing damage to the developing kidneys.
- Correction of oligohydramnios could reduce the possibility of pulmonary hypoplasia.
- In the post-natal life, efforts are geared toward abdominal wall reconstruction for both esthetics and function.
The PBS is a very rare disorder as acknowledged by several authors. [6],[9],[10] This case is the third one encountered in our facility (UBTH) over a period of two decades. The hospital has an in-patient admission rate of about 2000 per year. Unlike the first two cases encountered, the index case occurred among siblings also. Familial PBS is a rarer form of the condition. [9] Less than 20 cases are documented in literature worldwide, with the majority seen in consanguineous families. [11] The genetic basis of the disorder is also noted by several authors [6],[9],[10],[11],[12],[13] and is based on male preponderance and over fourfold increased prevalence in twins. [14] Several modes of inheritance ranging from autosomal recessive to sex-linked have been suggested. In the most comprehensive analysis available in the literature, Ramasamy et al [6] reviewed 11 cases of familial PBS that had been evaluated for possible modes of inheritance. Five appeared to be X-linked recessive, another five were autosomal recessive, and one was autosomal dominant/mitochondrial. A single mode of inheritance may not explain every case and they suggested a sex-influenced autosomal recessive mode of inheritance. Using a DNA chip-based genome-wide linkage analysis, Weber et al [15] noted a region of homozygosity on chromosome 1q 41-44 and an alternative locus on chromosome 11p11 for posterior urethral valve-PBS linkage analysis.
The PBS is 20 times more common in males than females. [16] This has been thought to be due to the more complex morphogenesis in the former than in the latter. [17] X-linked mode of in-heritance may also partly explain the male predilection. However, PBS appears to be a heterogeneous group of disorders, with the non-familial type predominating.
PBS is also said to occur significantly more commonly in Blacks than in Whites. [18] Based on this observation, researchers or epidemiologists had expected far more cases in Nigeria, a country that accounts for almost 20% of the Black population. [10] This is, however, not the case. Nonetheless, Okeniyi et al [10] are of the view that far more cases may in fact be encountered in Nigeria than is currently reported. This could be because such children with frankly obvious malformations may not be brought to the hospital because of ignorance and widely held belief that the malformation is caused by a number of socio-cultural factors including maternal infidelity. [10]
Late presentation and delayed intervention are the bane of heath-care practice in most developing or resource-poor countries of the world. [19] Though pre-natal sonographic assessment revealed fetal malformation, nothing definitive was done and pregnancy was carried to term despite the family history of severe congenital anomaly. This attitude of the index family may appear curious. However, far more families are wont to behaving in similar manner in Nigeria if faced with a similar situation. Such queer attitudinal dispositions of parents have been blamed on education. However, both parents in this case had at least secondary education. Patient was lost to follow-up after several visits. This phenomenon is again common in health-care practice in developing countries. [19] Several factors thought to be responsible include parental ignorance, cultural practices, lack of education, and frustration with the tardiness of most public health institutions regarding definitive interventions. It is uncertain how much relief the child could have gotten, given the paucity of facilities in our health institutions. Features in the patient did not suggest poor prognosis in the immediate term and this may explain why the patient got lost to follow-up.
| Acknowledgment | | |
We wish to acknowledge the efforts of the residents in the nephrology unit of the Department of Child Health who contributed immensely to the management of this patient, including ensuring that relevant investigations were carried out on time.
| References | | |
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| 14. | Weber S, Mri S, Schlunguan KP, et al. Gene locus ambiguity in posterior urethra valve/ prune belly syndrome. Paediatr Nephrol 2005; 20:1036-42.
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| 15. | Woods AG, Brandon D. Prune belly syndrome: a focused physical assessment. Adv Neonatal Care 2007;7:132-43.
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| 16. | Reinberg Y. Prune Belly Syndrome in females. A triad of abdominal musculature deficiency and anomalies of urinary and genital systems. J Pediatr 1991;118:395-8.
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| 17. | Druschel CM. A descriptive study of prune belly in New York State, 1983-1989. Arch Paediatr Adolesc Med 1995;149:70-6.
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| 18. | Ibadin MO, Ofili A, Airauhi LU, Osabuohien O, Osawe I. Evaluation of some factors predisposing to malaria related anaemia among children in Benin City, Nigeria. Trop J Hlth Sci 2006;13:23-7.
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| 19. | Deming M, Gayibor A, Murphy K, Jones TS, Karsa T. The home treatment of febrile with anti-malarial drugs in Togo. WHO Bull 1989; 67:695-700.
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Correspondence Address:
Michael Okoeguale Ibadin
Department of Child Health, University of Benin Teaching Hospital, Benin City
Nigeria
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PMID: 22382231 
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