Prune-Belly syndrome, a rare case presentation in neonatology: about one case in Yaounde, Cameroon.

The Prune-Belly syndrome (PBS) is a rare pathology predominating in male infants, classically manifesting with the triad including aplasia of the abdominal wall muscles, dilatation of the urinary tract, and testicular abnormalities. We report and discuss the case of a full-term male newborn, in whom clinical examination at birth revealed abdominal wall muscle hypoplasia, cryptorchidism, urinary tract dilatation and renal failure. The diagnosis was made based on physical assessment, abdominal ultra-sonographic imaging, and blood sampling of urea and creatinine. For such cases, the recommended surgical management usually consists in a sequential surgical intervention including urinary tract reconstruction, abdominoplasty, and orchidopexy. However, these could not be practiced in due time in our patient, who died on the seventh day of life because of kidney failure. The prognosis of infants with Prune-Belly syndrome may be improved by quality antenatal follow-up, to enable the early diagnosis and preparation for prompt surgical intervention.

Gonadal Function and Reproductive System Anatomy in Postpubertal Prune-Belly Syndrome Patients.

OBJECTIVE: To gain insight into the causes of infertility in Prune Belly Syndrome (PBS) by evaluating reproductive system anatomy and gonadal function in a cohort of postpubertal PBS patients. METHODS: We contacted all PBS patients 14 years old or older treated and followed at our institution. Age at orchiopexy, type of orchiopexy (with or without ligation of gonadal vessels), testicular volumes and positions were evaluated. Pelvic magnetic resonance imaging (to assess prostate size, seminal vesicles, and vas) and hormonal profile were ordered. Sperm analysis and analysis of urine after masturbation were performed after informed consent. RESULTS: Fifteen patients were included in this study. Mean age was 19.2 years. Mean age at orchiopexy was 18 months. Fourteen patients (93.3%) had normal and orthotopic testes. Mean testicular volume was 6.9 cc. Eight patients collected semen, 5 of them (62.5%) had spermatozoa in the specimen and motile sperm was found in 4 (50%). Mean hormone levels were LH: 5.3 mg/dL, FSH: 6.9 mg/dL, testosterone 531 mg/dL. Magnetic resonance imaging revealed hypoplastic prostates in 66.6% and unilateral seminal vesicle absence in 66.6%. No vasal abnormality was noted. CONCLUSION: Patients with PBS may have normal sexual hormonal levels. Motile spermatozoa were found in half of the patients. Our study highlights a high prevalence of prostate and seminal vesicle abnormalities that may represent an important cause for their infertility.

Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.

BACKGROUND: Prune belly syndrome (PBS) is a rare, multi-system congenital myopathy primarily affecting males that is poorly described genetically. Phenotypically, its morbidity spans from mild to lethal, however, all isolated PBS cases manifest three cardinal pathological features: 1) wrinkled flaccid ventral abdominal wall with skeletal muscle deficiency, 2) urinary tract dilation with poorly contractile smooth muscle, and 3) intra-abdominal undescended testes. Despite evidence for a genetic basis, previously reported PBS autosomal candidate genes only account for one consanguineous family and single cases. METHODS: We performed whole exome sequencing (WES) of two maternal adult half-brothers with syndromic PBS (PBS + Otopalatodigital spectrum disorder [OPDSD]) and two unrelated sporadic individuals with isolated PBS and further functionally validated the identified mutations. RESULTS: We identified three unreported hemizygous missense point mutations in the X-chromosome gene Filamin A (FLNA) (c.4952 C > T (p.A1448V), c.6727C > T (p.C2160R), c.5966 G > A (p.G2236E)) in two related cases and two unrelated sporadic individuals. Two of the three PBS mutations map to the highly regulatory, stretch-sensing Ig19-21 region of FLNA and enhance binding to intracellular tails of the transmembrane receptor ß-integrin 1 (ITGß1). CONCLUSIONS: FLNA is a regulatory actin-crosslinking protein that functions in smooth muscle cells as a mechanosensing molecular scaffold, transmitting force signals from the actin-myosin motor units and cytoskeleton via binding partners to the extracellular matrix. This is the first evidence for an X-linked cause of PBS in multiple unrelated individuals and expands the phenotypic spectrum associated with FLNA in males surviving even into adulthood.

Differences in Linea Alba Stiffness and Linea Alba Distortion Between Women With and Without Diastasis Recti Abdominis: The Impact of Measurement Site and Task.

BACKGROUND: The biomechanical implications of diastasis recti abdominis (DRA) are unknown. OBJECTIVES: To (1) investigate the impact of DRA, measurement site, and task on inter-rectus distance (IRD), linea alba (LA) stiffness, and LA distortion measured at rest and during head-lift and semi-curl-up tasks; and (2) describe the relationships among IRD, LA stiffness, and LA distortion. METHODS: In this cross-sectional, observational cohort study, brightness-mode ultrasound imaging and shearwave elastography were used on a sample of 20 women. Inter-rectus distance, LA stiffness, and LA distortion were measured at 3 locations, while at rest and during head-lift and semi-curl-up maneuvers. All outcomes were compared between groups (DRA versus no DRA), sites, and tasks. Linear regression models were used to evaluate the relationships among IRD, mean and peak LA stiffness, and LA distortion. RESULTS: Eleven women with and 9 without DRA participated. Women with DRA demonstrated lower peak and mean LA stiffness and higher LA distortion compared to women without DRA. In women with DRA, IRD and LA distortion were not influenced by measurement site; IRD decreased, LA distortion increased, and LA stiffness did not change during the head lift and semi-curl-up compared to rest. In women without DRA, the LA was least stiff closest to the umbilicus; it increased in stiffness during the head lift and semi-curl-up and did not distort or change compared to rest. CONCLUSION: Diastasis recti abdominis was associated with low LA stiffness and with LA distortion during a semi-curl-up task; the amount of distortion was a function of IRD and LA stiffness. J Orthop Sports Phys Ther 2019;49(9):656-665. Epub 26 Mar 2019. doi:10.2519/jospt.2019.8543.

Three cases of prune belly syndrome at the Lagos State University Teaching Hospital, Ikeja.

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.

Diastasis of rectus abdominis muscles in low back pain patients.

BACKGROUND: Abdominal muscles are important spinal stabilizers and its poor coordination, as seen in diastasis of rectus abdominis (DRA), may contribute to chronic low back pain (LBP). However, this has not yet been studied directly. OBJECTIVES: To conduct a pilot study to examine the association between DRA and LBP. METHODS: Using a digital caliper, standard clinical DRA measurement was performed in 55 participants with and 54 without chronic LBP. RESULTS: Participants were on average 55 years old, 69 (63%) were women. Among the 16 participants with DRA, 11 (69%) had chronic LBP; among the 93 participants without DRA, 44 (47%) had LBP. Among men, 7 of 9 (77%) with DRA had LBP and 14 of 31 (45%) without DRA had LBP. Among women, 4 of 7 (57%) with DRA had LBP and 30 of 62 (48%) without DRA had LBP. BMI was the strongest correlate of DRA and may explain the relation between DRA and chronic LBP. CONCLUSIONS: DRA and LBP may be interrelated, especially among men. This may be a function of greater BMI in individuals with chronic LBP. Understanding the association between DRA, LBP, and BMI may have important implications for treatment of LBP and for intervention.

PATTERN AND OUTCOME OF RENAL DISEASES IN HOSPITALIZED CHILDREN IN TIKUR ANBESSA SPECIALIZED TEACHING HOSPITAL, ADDIS ABABA, ETHIOPIA.

Background: Renal diseases are major causes of morbidity and mortality in pediatric practice. Pediatric patients with renal disease, especially younger ones may present with nonspecific signs and symptoms unrelated to the urinary tract. Unexplained fever or failure to thrive may be the only manifestation. Most children with renal diseases in our hospital arrive very late either because of inadequate health awareness among the parents or failure of recognizing the symptoms of renal diseases at a lower health care level. This review will highlight the symptoms of renal diseases at presentation and outcomes of treatment in children in a major referral hospital. Methods: A cross-sectional retrospective chart review was done over a period of 3 years (June, 2012 to May, 2015) in 381 admitted children (Birth-17 years) at Tikur Anbessa Specialized Teaching Hospital in Addis Ababa, Ethiopia. Results: Out of 14521 pediatric ward admissions in the study period, kidney diseases accounted for 473 admissions in 381 children, accounting for 3.3% of all admissions. The three most common renal diseases observed were congenital anomalies of the kidney and urinary tract (CAKUT) seen in 127 children (26.8%), followed by nephrotic syndrome in 80 children 16.9% and acute glomerulonephritis in 58 children (12.2%). Other renal diseases observed were urinary tract infection 8.0%, urolithiasis 6.7%, Wilm's tumor 6.3%, acute kidney injury 4.2% and chronic kidney disease 4.0%. Other less frequently detected diseases were bladder exstrophy, lupus nephritis, Henock shonlein Purpura nephritis and prune-belly syndrome. Out of 381 children 207 (54.3%) recovered normal renal function, 20(5.2%) remained with proteinuria, 13(3.4%) progressed to chronic kidney disease and 11(2.9%) died. Sixty one nephrotic children (76.3%) achieved remission but 17 children (21.3%) remained with proteinuria; one steroid resistant child died of end stage renal disease. Ten children (2.6%) with different renal diseases were lost to follow-up and 5 (1.3%) discharged against medical advice. Conclusions: This data reflects that many of the renal diseases are preventable or potentially curable. Therefore, improvement of pediatric renal services and training of health workers would help in early detection and treatment of these conditions leading to reduction in their morbidity and mortality.

Prune belly syndrome. A focused physical assessment.

Prune belly syndrome, a rare congenital anomaly, exists almost exclusively in males and consists of genital and urinary abnormalities with partial or complete absence of abdominal wall musculature. The syndrome, caused by urethral obstruction early in development, is the result of massive bladder distention and urinary ascites, leading to degeneration of the abdominal wall musculature and failure of testicular descent. The impaired elimination of urine from the bladder leads to oligohydramnios, pulmonary hypoplasia, and Potter's facies. The syndrome has a broad spectrum of affected anatomy with different levels of severity. The exact etiology of prune belly syndrome is unknown, although several embryologic theories attempt to explain the anomaly. With advances in prenatal screening techniques, the diagnosis and possible treatment of prune belly syndrome can occur before birth, although controversy exists on the proper management of prune belly syndrome. This article explores the theories behind the pathophysiology and embryology of prune belly syndrome and its multisystemic effects on the newborn infant. Specific attention is paid to presentation, clinical features, head-to-toe physical assessment, family support, and nursing care of infants with prune belly syndrome.

Renal transplantation in prune-belly syndrome.

We assess the effect of the prune-belly syndrome (PBS) on renal transplantation outcome. Six renal transplantations were performed in five boys affected by PBS (median age 5.8+/-2.1 years, median weight 13.6+/-2.4kg). Renal graft survival, graft function, lower urinary tract dysfunction, urinary tract infections (UTIs), associated complications and patients' survival after 1 and 5 years of follow-up were analysed. The rate for 1-5-year graft survival was 66.7% (mean serum creatinine 98-103 micromol/l). The surgical treatment of the documented bladder obstruction (two patients) and the severe abdominal wall deficit (one patient) led to a reduction of UTI: the patients maintained their native urinary tract and none received prophylactic antibiotics. The lack of abdominal wall musculature led to severe mechanical complication in one patient, but Monfort's abdominal wall reconstruction was able to restore the graft's function. The outcome of patients with PBS who undergo renal transplantation is good. Before the transplant, an accurate assessment of urinary tract anomalies and deficiency of the abdominal wall musculature is mandatory, to program the appropriate treatment and obtain a good long-term prognosis for the renal graft.

Surgical treatment with the technique of Galveston-Luque of spine deformities associated with the prune belly syndrome.

In prune belly syndrome (PBS), spine deformities, particularly scoliosis, are the most frequent accompanying orthopedic problem (18%). We give a detailed description of two cases with prune belly-associated spine deformities. A combined anterior-posterior fusion procedure with posterior correction and stabilization according to the Galveston-Luque technique was carried out in both patients. In one patient insufficiency of the pelvic fixation developed with loss of balance. Reoperation was performed. In the second patient correct alignment and balance was achieved, breakage of both metal rods occurred over time. The PBS represents a model of how scoliosis may emerge. The lack of the abdominal musculature subsequently leads to congenial imbalance, which may cause lordo-scoliotic deformity. The operative treatment of spine deformities in the PBS in the presented technique is efficient. In great deformities balance is difficult to achieve and maintain especially in the lumbo-sacral junction.

Long-term outcome of Fowler-Stephens orchiopexy in boys with prune-belly syndrome.

PURPOSE: Intra-abdominal testes in boys with prune-belly syndrome have been conventionally managed by 1 or 2-stage orchiopexy with division of the gonadal vessels. We reviewed a series of adults with prune-belly syndrome to assess the morphological and functional outcome of orchiopexy in childhood with specific reference to the spontaneous onset of puberty, hormonal profiles and sexual function. MATERIALS AND METHODS: A total of 41 boys were divided into 3 groups depending on the type of orchiopexy performed, namely group 1-20 with bilateral 1-stage orchiopexy, group 2-10 with unilateral 1-stage and contralateral 2-stage orchiopexy, and group 3-11 with bilateral 2-stage orchiopexy. RESULTS: In group 1 9 of 20 patients had good scrotal testes bilaterally, 6 had a good scrotal testis on 1 side and 3 had small testes on each side. Two boys required testosterone supplementation but 18 had normal hormonal and sexual function. In group 2 6 of 10 patients had good scrotal testes bilaterally and 4 had a good scrotal testis on 1 side. All patients underwent spontaneous puberty with good sexual function. In group 3 7 of 11 boys had good scrotal testes bilaterally and 3 had 1 good testis with normal puberty and sexual function. These 10 patients underwent spontaneous puberty with good sexual function. CONCLUSIONS: The majority of boys with prune-belly syndrome had a satisfactory outcome after orchiopexy with division of the gonadal vessels with testicular function sufficient to induce puberty and maintain satisfactory sexual function in adult life.

Prenatal diagnosis and postnatal outcome of congenital megalourethra. Report of two cases.

We present 2 cases of congenital megalourethra diagnosed by prenatal ultrasound scan during the second trimester of pregnancy. The first one was associated with features suggesting prune belly syndrome (PBS) in contrast to the other one. Fetal urine biochemistry and fetal serum beta2-microglobulin was used to rule out severe renal impairment that would have led to postnatal renal failure soon after birth. In both cases, after extensive counselling, the parents opted against termination of pregnancy and in both cases vaginal delivery of a live neonate occurred. Postnatal follow-up demonstrated that the two infants were found to have mildly altered renal function without any physical or mental development delay. Association with features of PBS didn't seem to influence the severity of renal function impairment however, but PBS may influence parents' decision regarding termination because of additional corrective surgery and further infertility.

Sindrome de Prune Belly: presentación de un caso. Consideraciones sobre diagnóstico ultrasónico y tratamiento / Prune-Belly Syndrome: a case report

Frecuencia: Uno en 50.000 nacimientos. Principales manifestaciones: Agenesia o Atresia de musculatura abdominal; Agenesia o Atresia de uretra; Megavejiga. Etiología: Algunos autores consideran una consecuencia de un defecto mesodérmico primario. Caso clínico: Controles obstétricos normales hasta la semana 16, con diagnóstico ecográfico de Megavejiga. Se realizan punciones con evacuación de orina fetal. Se realiza estudio cromosómico y bioquímico. Consideraciones terapéuticas: 1) Punciones con evacuación de orina para disminuir la presión retrógada del tracto urinario; 2) Derivación de vejiga a líquido amniótico, que trata además el oligoamnios y mejora el desarrollo pulmonar; 3) Corregir las alteraciones morfológicas. Conclusiones: Formar un equipo médico interdisciplinario. Informar a los padres y prevenir que a pesar del tratamiento puede ocurrir fallo renal o pulmonar irreversible. Importancia del diagnóstico ultrasónico precoz.

Prognostic factors for long-term renal function in boys with the prune-belly syndrome.

PURPOSE: Renal failure develops in 25 to 30% of patients with the prune-belly syndrome. The clinical parameters associated with renal failure in this condition are not well understood. We determined which factors predict renal failure in children with the prune-belly syndrome. MATERIALS AND METHODS: We reviewed the records of 35 patients with the prune-belly syndrome who were treated at our hospital during a 37-year period. Nadir serum creatinine, time to nadir creatinine, presence or absence of a patent urachus, presence and severity of urinary tract infection, and renal failure were analyzed. RESULTS: Mean followup was 14 years 2 months. In 2 of the 17 patients with a nadir serum creatinine of less than 0.7 mg./dl. renal failure developed. Each of these 2 children also had clinical pyelonephritis and urosepsis. In 12 of the 13 patients nadir serum creatinine greater than 0.7 mg./dl. strongly predicted renal failure. Nonfebrile urinary tract infection within the first year of life was not predictive of outcome (p = 0.8) but a history of clinical pyelonephritis correlated with eventual renal failure (p<0.001). Urosepsis also correlated with renal failure (p = 0.008). Children with at least 1 normal kidney on renal ultrasound or renal scan had a significantly lower chance of renal failure (p<0.001). CONCLUSIONS: Bilaterally abnormal kidneys on ultrasound or renal scan, a nadir serum creatinine of greater than 0.7 mg./dl. and clinical pyelonephritis are prognostic for renal failure.

The importance of an intact abdominal musculature mechanism in maintaining spinal sagittal balance. Case illustration in prune-belly syndrome.

STUDY DESIGN: A rare case of thoracic hypokyphotic deformity secondary to prune-belly syndrome is presented. OBJECTIVES: To discuss the role of an intact abdominal musculature mechanism in maintaining spinal sagittal balance, and to present a case illustration of prune-belly syndrome. SUMMARY OF BACKGROUND DATA: There has been an ongoing debate concerning the integrity of the abdominal musculature unit in maintaining spinal support and stability. It is now believed that intra-abdominal pressure hitherto generated plays an important role in the stabilization of the spine. Congenital aplasia of the abdominal musculature, termed prune-belly syndrome, might therefore result in the loss of spinal function and stability. The literature also is reviewed for the incidence of spinal deformities related to this condition. METHODS: A unique case of prune-belly syndrome in a 33-year-old man with congenital aplasia of the abdominal musculature is presented. RESULTS: The patient exhibited loss of the spinal sagittal balance, with resultant development of a thoracic hypokyphotic deformity and thoracolumbar scoliosis. CONCLUSIONS: Scoliosis appears to be the most commonly reported spinal deformity. Unequal compressive forces on the vertebral endplates may be the proposed mechanism for the spinal deformities. Compensatory lumbar paraspinal overactivity resulting from the inability to generate normal intra-abdominal pressures because of a deficient abdominal wall musculature mechanism seems to be the plausible explanation for the observed thoracic hypokyphatic deformity.

Voiding function in patients with the prune-belly syndrome after Monfort abdominoplasty.

PURPOSE: We reviewed our experience with patients with the prune-belly syndrome who had undergone Monfort abdominoplasty to assess whether our clinical impression of improved voiding efficiency could be demonstrated objectively. MATERIALS AND METHODS: From 1990 to 1993, 12 patients with the prune-belly syndrome underwent Monfort abdominoplasty with or without concomitant genitourinary reconstruction. All patients completed questionnaires on voiding before and after abdominoplasty, incontinence, bladder sensation, urinary flow, history of urinary tract infections and the ability to defecate. Urodynamic testing was performed in 8 patients before and after abdominoplasty. RESULTS: Subjective changes that occurred after abdominoplasty included resolution of or less double voiding in 9 patients, improved urinary continence in 7, improved bladder fullness sensation in 11, improved urinary flow in 10 and improved defecation in 5. The incidence of urinary tract infections decreased from a preoperative average of 5.7 per patient per year to 1.2 per patient per year postoperatively. Urodynamics demonstrated no significant changes in the measured urinary flow, capacity or maximal detrusor pressure. Compliance decreased on average but it remained in the compliant range. However, post-void residual volumes did significantly decrease from a preoperative average of 40.3% of bladder capacity to 13% after abdominoplasty. If the 5 patients who underwent concomitant urinary reconstruction were excluded, the reduction in average post-void residuals remained approximately the same, which was 40% of bladder capacity preoperatively to 14.3% after abdominoplasty. These data suggest that abdominoplasty alone was responsible for improved micturition. CONCLUSIONS: In addition to the cosmetic benefits and exposure provided for genitourinary reconstruction Monfort abdominoplasty seems to improve voiding efficiency.