Prune-Belly Syndrome: An Update.

The Prune-Belly (Eagle-Barrett) syndrome (PBS) is a congenital and genetically heterogeneous disease, more prevalent in males, defined by the clinical triad (1) deficiency of abdominal muscles, (2) bilateral cryptorchidism, and (3) urinary tract abnormalities. The abdomen of an infant with PBS has a typical appearance, similar to the aspect of a prune, which gives it its name. Although the etiology of this disorder is still unknown, numerous theories, mutations, and genetic disturbances have been proposed to explain the origin of PBS. Prognosis can differ a lot from one patient to another, since this condition has a wide spectrum of clinical presentation. Despite being a rare condition, the importance of PBS should not be underestimated, in the light of the potential of the disorder to lead to chronic kidney disease and other severe complications. In that regard, this review gathers the most up-to-date knowledge about the etiopathogenesis, clinical features, diagnosis, management and prognosis of PBS.

Prune belly syndrome: A rare case report.

Key Clinical Message: In babies presenting with an omphalocele, other components of the prune belly syndrome should be scrutinized for early diagnosis and timely intervention. Abstract: A male baby on his 13th day of life presented with an omphalocele. On evaluation, he had congenital absence of left kidney and bilateral cryptorchidism. Therefore, he was diagnosed with prune belly syndrome. He responded well to abdminoplasty, and wait and watch policy was applied for his cryptorchidism.

Novel minimally invasive abdominoplasty for selected cases of prune belly syndrome: Step-by-step technique description and clinical indications.

BACKGROUND: Prune belly syndrome (PBS) is characterized by the triad of abdominal flaccidity, bilateral undescended testicles and genitourinary tract anomalies. A variable spectrum of abdominal wall laxity is observed in PBS. We present the first case of a novel technique using a minimally invasive abdominoplasty to specifically address patients with localized abdominal wall weakness in PBS. CASE PRESENTATION: A two-years-old child with PBS presented with recurrent febrile urinary tract infections. Ultrasonography demonstrated a dysplastic right kidney associated with significant ipsilateral ureterohydronephrosis. Voiding urethrocystogram did not show vesicoureteral reflux and DMSA scan depicted a non-functioning right kidney. During laparoscopic right nephroureterectomy and first stage Fowler-Stephens bilateral orchiopexies, a significant right-sided lateral abdominal wall bulging was observed. A minimally invasive laparoscopic abdominoplasty was performed with a one-way running suture using an unabsorbable 2.0 prolene approximating the edges of the musculofascial defect. While undergoing the second-stage Fowler-Stephens orchiopexy, no bulging was observed. CONCLUSION: A minimally invasive abdominoplasty to improve abdominal wall lateral bulging in PBS was feasible and presented good cosmetic result. We anticipate that this technique can be applied for children with PBS with primary lateral abdominal wall bulging, employing one or more suture lines depending on the fascial defect size.

Fertility prospects for the prune-belly patient: A scoping review.

INTRODUCTION: With advances in medical care and assisted reproductive technologies (ART), fertility prospects for prune-belly syndrome (PBS) men may be changing. This review aims to identify the factors influencing fertility and optimization of reproductive health for PBS patients. MATERIAL AND METHODS: A scoping review was performed on all records published over 70 years (1952-2022) analyzing fertility in PBS males. Records were summarized in a table and narrative describing cryptorchidism, orchiopexy, testicle histology; prostate characteristics; sex hormone function; semen analyses, ART, and conception ability. This review was registered on Open Science Framework (OSF) and conducted using PRISMA methodology. RESULTS: 827 articles were identified and 83 were selected for data extraction. Before 2000, there were 0.85 publications/year whereas after 2000 there were 1.95 publications/year. Orchiopexy successfully relocated 86 % of PBS testicles into the scrotum. Testicular histology demonstrated 50 % of patients had no spermatogonia, while 47.2 % and 2.7 % had reduced or normal numbers respectively. Leydig hyperplasia and Sertoli only histology were found in 19.4 % of patients. Prostatic hypoplasia and prostatic urethral dilation were found in 93.6 % and 91.4 % of patients respectively. Testosterone, Luteinizing hormone (LH) and Follicle-stimulating hormone (FSH) were normal in 93.9 %, 87.7 % and 77.9 % of patients respectively. Azoospermia and oligospermia was found in 75.7 % and 21.6 % of patients respectively while 60.7 % had antegrade ejaculation. ART successfully extracted sperm in 6 instances and resulted in 4 conceptions, while natural conception was reported twice. CONCLUSIONS: Data analysis indicates increased attention to fertility prospects for PBS males with evaluation of PBS patient's hormonal function, semen analyses, ART, and conception ability. The reviewed data suggest that PBS males may father biological offspring with contemporary management and also demonstrate the need for consistent reproductive management approaches to maximize their fertility prospects.

Kidney function and transplants in prune belly syndrome: a scoping review.

BACKGROUND: Children with prune belly syndrome (PBS) are at higher risk of developing kidney dysfunction and requiring kidney replacement therapy (KRT). While studies have described surgical and survival outcomes in these populations, there has yet to be a focused synthesis of evidence regarding kidney outcomes in this population. Here, the focus of this scoping review was to highlight knowledge gaps and report standards on kidney outcomes in PBS of all ages. METHODS: Following scoping review methodology, EMBASE, MEDLINE, and Scopus were searched for peer-reviewed literature that describe kidney outcomes in PBS. All studies with a broad set of kidney outcomes (such as kidney function measures, chronic kidney disease (CKD), KRT and associated outcomes) were included. Findings were summarized and qualitatively synthesized. RESULTS: Of the 436 unique records identified, 25 were included for synthesis. A total of 17 studies (441 patients) reported on kidney insufficiency outcomes, with an estimated prevalence of CKD ranging from 8 to 66%. A total of 15 studies (314 patients) described KRT, primary kidney transplant, and outcomes. Of these, the age for KRT ranged from 4 to 21 years, and graft survival ranged from 22 to 87% by last follow-up (range 1.3-27 years). CONCLUSIONS: There is significant variability in studies reporting kidney outcomes in PBS which limits meaningful synthesis. There is a need for future studies with comprehensive reporting of confounders and drivers for kidney insufficiency in PBS.

Simultaneous second-stage Fowler-Stephens Orchiopexy and microvascular testicular autotransplantation in a patient with prune belly syndrome with cryptorchidism.

We present a case of simultaneous second-stage Fowler-Stephens Orchiopexy (FSO) with microvascular testicular autotransplantation for cryptorchidism and in a patient with prune belly syndrome. At 5 months old, the patient underwent laparoscopic bilateral first-stage FSO with the right testicle located 1 cm from the liver and the left slightly more caudal. An ultrasound on postoperative Day 72 following second-stage FSO and microvascular autotransplantation showed patent testicular vasculature. Our experience shows that this combination technique is safe and effective to supercharge the testicle and augment collateral vessels if clinical suspicion for monotherapy failure is high.

Rapid reversal of left ventricular enlargement after percutaneous closure of pulmonary sequestration in a newborn with prune belly syndrome.

In this article, we describe a newborn with Prune belly syndrome who presented with left ventricular dilation due to an extensive intralobar sequestration of the left lung. Pulmonary sequestration was combined with congenital cystic adenomatoid malformation and also had coarctation of the aorta. Percutaneous closure of the anomalous aberrant artery feeding the sequestrated lung and balloon angioplasty for coarctation resulted in prompt regression of the left ventricular enlargement in the catheterization lab.

Lower Urinary Tract Obstruction in Newborns.

Lower urinary tract obstruction (LUTO) is a rare birth defect with a prevalence between 1 in 5,000 and 1 in 25,000 pregnancies. LUTO is one of the most common causes of congenital abnormalities of the renal tract. Several genetic conditions have been associated with LUTO. Most common causes of LUTO are posterior urethral valves and urethral atresia. Despite available prenatal and postnatal treatments, LUTO is a significant cause of morbidity and mortality in newborns causing significant end stage renal disease and pulmonary hypoplasia.

Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome.

Objectives/aims: The visceral myopathies (VM) are a group of disorders characterised by poorly contractile or acontractile smooth muscle. They manifest in both the GI and GU tracts, ranging from megacystis to Prune Belly syndrome. We aimed to apply a bespoke virtual genetic panel and describe novel variants associated with this condition using whole genome sequencing data within the Genomics England 100,000 Genomes Project. Methods: We screened the Genomics England 100,000 Genomes Project rare diseases database for patients with VM-related phenotypes. These patients were screened for sequence variants and copy number variants (CNV) in ACTG2, ACTA2, MYH11, MYLK, LMOD1, CHRM3, MYL9, FLNA and KNCMA1 by analysing whole genome sequencing data. The identified variants were analysed using variant effect predictor online tool, and any possible segregation in other family members and novel missense mutations was modelled using in silico tools. The VM cohort was also used to perform a genome-wide variant burden test in order to identify confirm gene associations in this cohort. Results: We identified 76 patients with phenotypes consistent with a diagnosis of VM. The range of presentations included megacystis/microcolon hypoperistalsis syndrome, Prune Belly syndrome and chronic intestinal pseudo-obstruction. Of the patients in whom we identified heterozygous ACTG2 variants, 7 had likely pathogenic variants including 1 novel likely pathogenic allele. There were 4 patients in whom we identified a heterozygous MYH11 variant of uncertain significance which leads to a frameshift and a predicted protein elongation. We identified one family in whom we found a heterozygous variant of uncertain significance in KCNMA1 which in silico models predicted to be disease causing and may explain the VM phenotype seen. We did not find any CNV changes in known genes leading to VM-related disease phenotypes. In this phenotype selected cohort, ACTG2 is the largest monogenic cause of VM-related disease accounting for 9% of the cohort, supported by a variant burden test approach, which identified ACTG2 variants as the largest contributor to VM-related phenotypes. Conclusions: VM are a group of disorders that are not easily classified and may be given different diagnostic labels depending on their phenotype. Molecular genetic analysis of these patients is valuable as it allows precise diagnosis and aids understanding of the underlying disease manifestations. We identified ACTG2 as the most frequent genetic cause of VM. We recommend a nomenclature change to 'autosomal dominant ACTG2 visceral myopathy' for patients with pathogenic variants in ACTG2 and associated VM phenotypes. Supplementary Information: The online version contains supplementary material available at 10.1007/s44162-023-00012-z.

Challenges in the surgical treatment of a 8-year old child living with Prune Belly syndrome: case report / Desafios no tratamento tardio da síndrome de Prune Belly: relato de caso

Prune Belly syndrome, also known as Eagle-Barret syndrome, is a rare disease, with a prevalence of 3.8 live births per 100,000 births. Its main characteristic is the hypoplasia of the abdominal muscles, giving rise to the name "prune belly syndrome". The gold standard treatment is surgery, ideally with correction of cryptorchidism and phimosis between 6 to 18 months of life. Correction of urinary malformations and abdominoplasty should be performed up to 4 years of age. Little evidence exists in the literature about late treatment and its implications for prognosis. The context mentioned above led us to present an uncommon case of a six years old child in which a surgical approach was performed later than usual.

Introdução: A síndrome de Prune Belly é uma doença rara, com prevalência de 3,8 nascidos vivos a cada 100 mil nascimentos. Tem como principal caraterística a hipoplasia da musculatura abdominal gerando a origem do nome "síndrome da barriga de ameixa". O tratamento padrão ouro é cirúrgico, idealmente com correção da criptorquidia e fimose entre 6 a 18 meses e a correção das malformações urinárias e abdominoplastia devem ser realizadas até os 4 anos. Aqui descreve-se um caso ainda menos comum, em que foi realizada abordagem cirúrgica de forma mais tardia que o habitual. Há pouca evidência na literatura acerca do tratamento tardio e suas implicações em relação ao prognóstico.

Dental treatment of patients with prune belly syndrome.

BACKGROUND: Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome (EGBRS), is a rare congenital disease characterized by deficiency or absence of abdominal wall muscles, urological abnormalities, and bilateral cryptorchidism. TYPES OF STUDIES REVIEWED: A review of literature was done using four search engines (PubMed, Google Scholar, Scopus, Science Direct) and keywords (individually and in combinations): prune belly syndrome, PBS, Eagle-Barrett syndrome, dental manifestation, clinical manifestation, and psychological aspects. The search was run with no language restrictions and covered the 1965-2021 time period. RESULTS: The search yielded a large number of articles. The vast majority were dealing with a variety of treatments. PBS is a multisystem disease with a variable spectrum ranging from mild cases to infant mortality. Comorbidities of PBS (63% gastrointestinal, 65% orthopedic, and 49% cardiopulmonary) present challenges for treatment. PBS affects quality of life of patients and caregivers. We selected and summarized published information that is relevant to oral health and dental care. CONCLUSIONS AND PRACTICAL IMPLICATIONS: Providing information to dental practitioners will improve their understanding of PBS. It will help them to better treat patients with PBS and it will encourage more dental providers to welcome patients with PBS into their dental clinics.

Management of Abdominal Wall Defects.

Congenital abdominal wall defects vary from abdominal wall hernias to severe congenital structural anomalies that include gastroschisis, omphalocele, and prune belly syndrome. The conditions often carry various associated anomalies and require multidisciplinary treatment approaches. Complex surgical reconstructive techniques are frequently required and prenatal, perioperative, and long-term follow-up is critical to ensuring the best possible outcomes.

Pregnant patient with prune belly syndrome: case report

ABSTRACT Prune belly syndrome is a rare congenital disease of unknown etiology that is present in one in every 40 thousand live births, and predominantly affects males, at a ratio of 4:1. In males, it presents with anomalies in the urinary system, absence of abdominal muscles, bilateral cryptorchidism, and infertility. In women, the syndrome has variable presentations, but fertility is preserved. Searching the medical literature, we found only one case of prune belly syndrome in pregnant women. Therefore, the patient in this report is the second case. She was primiparous, 25-years-old, with no abdominal muscles, severe congenital kyphoscoliosis, and pulmonary restriction. Elective cesarean section was performed at 37 weeks of gestation due to maternal risk of uterine rupture by transverse presentation and fetal risk of intrauterine growth restriction. The pre-anesthetic approach defined that general anesthesia might have more risks for the patient due to severe maternal lung disease compared to ultrasound-guided locoregional anesthesia. During prenatal care, there were some maternal complications, such as asthma exacerbations, abdominal pain, and constipation. The newborn was born small for gestational age and this can possibly be explained by maternal restrictive lung capacity. The newborn presented with Apgar score 8/9 and tachypnea, but improved after two hours of life.

Case Report: Novel Copy Number Variant 16p11.2 Duplication Associated With Prune Belly Syndrome.

Prune belly syndrome (PBS) is a rare congenital disease that predominantly occurs in males and is identified by its classic triad of abdominal wall musculature deficiencies, cryptorchidism, and urinary tract abnormalities. However, numerous anomalies involving the kidneys, heart, lungs, and muscles have also been reported. A multitude of chromosomal abnormalities have been implicated in its pathogenesis. PBS can occur in association with trisomy 18 and 21. Gene duplications and deletions have also been reported; however, a definite cause of PBS is still unknown. We report the first PBS patient with a copy number variant in 16p11.2.

Síndrome de Prune-Belly. Presentación de un caso / Prune-Belly Syndrome. Presentation of a case / Síndrome de Prune-Belly. Apresentação de um caso

RESUMEN Introducción: el síndrome Prune-Belly (SPB) o síndrome de "abdomen en ciruela pasa", también conocido como el síndrome de Eagle Barrett, es una forma de uropatía obstructiva fetal (UOF). Su incidencia se calcula entre 1/40 000 y 1/50 000 nacidos vivos. Presentación de caso: es un caso de síndrome de Prune-Belly en un lactante de 36 días de nacido, parto extrahospitalario. Clínicamente presentó abdomen distendido con piel arrugada o en ciruela pasa, criptorquidia bilateral, signos y síntomas de insuficiencia respiratoria. En la ultrasonografía se constató la ausencia de musculatura en la pared abdominal, megacisto, dilatación quística de los uréteres, riñones con cambios quísticos y displásicos. Discusión: en cuanto a la supervivencia, en numerosos estudios se encuentra que el porcentaje de mortalidad en los primeros meses de vida es del 27%. Está caracterizado por una clásica tríada: ausencia congénita de la musculatura de la pared abdominal; anormalidades del tracto urinario y criptorquidia bilateral, descrita en la literatura revisada, lo que coincide con las características clínicas del caso presentado,con una proporción masculino femenino de 20:1. El mayor riesgo se ha descrito en gemelos y afroamericanos. Conclusiones: está caracterizado por una clásica tríada: ausencia congénita de la musculatura de la pared abdominal; anormalidades del tracto urinario y criptorquidia bilateral. Es más frecuente en el sexo masculino. El diagnóstico del SPB puede realizarse durante la gestación a través de la ecografía obstétrica. La mortalidad en los primeros meses de vida es alta.

ABSTRACT Introduction: Prune-Belly syndrome (PBS) or "prune abdomen" syndrome, also known as Eagle Barrett syndrome, is a form of fetal obstructive uropathy (UOF). Its incidence is estimated between 1/40,000 and 1/50,000 live births. Case presentation: it is a case of Prune-Belly syndrome in a 36-day-old infant, out-of-hospital delivery. Clinically, she presented a distended abdomen with wrinkled or prune skin, bilateral cryptorchidism, signs and symptoms of respiratory failure. Ultrasonography revealed the absence of musculature in the abdominal wall, megacyst, cystic dilatation of the ureters, kidneys with cystic and dysplastic changes. Discussion: regarding survival, numerous studies have found that the percentage of mortality in the first months of life is 27%. It is characterized by a classic triad: congenital absence of the muscles of the abdominal wall; urinary tract abnormalities and bilateral cryptorchidism, described in the reviewed literature, which coincides with the clinical characteristics of the case presented, with a male-female ratio of 20: 1. The highest risk has been described in twins and African Americans. Conclusions: it is characterized by a classic triad: congenital absence of the muscles of the abdominal wall; urinary tract abnormalities and bilateral cryptorchidism. It is more common in males. The diagnosis of PBS can be made during pregnancy through obstetric ultrasound. Mortality in the first months of life is high.

RESUMO Introdução: A síndrome de Prune-Belly (PBS) ou síndrome do "abdômen de ameixa", também conhecida como síndrome de Eagle Barrett, é uma forma de uropatia obstrutiva fetal (UOF). Sua incidência é estimada entre 1 / 40.000 e 1 / 50.000 nascidos vivos. Apresentação do caso: trata-se de um caso de síndrome de Prune-Belly em lactente de 36 dias, parto fora do hospital. Clinicamente, apresentava abdome distendido com pele enrugada ou ameixada, criptorquidia bilateral, sinais e sintomas de insuficiência respiratória. A ultrassonografia revelou ausência de musculatura na parede abdominal, megacisto, dilatação cística dos ureteres, rins com alterações císticas e displásicas. Discussão: em relação à sobrevida, vários estudos constataram que o percentual de mortalidade nos primeiros meses de vida é de 27%. É caracterizada por uma tríade clássica: ausência congênita dos músculos da parede abdominal; anormalidades do trato urinário e criptorquidia bilateral, descritos na literatura revisada, que coincidem com as características clínicas do caso apresentado, com relação homem-mulher de 20: 1. O maior risco foi descrito em gêmeos e afro-americanos. Conclusões: caracteriza-se por uma tríade clássica: ausência congênita dos músculos da parede abdominal; anormalidades do trato urinário e criptorquidia bilateral. É mais comum em homens. O diagnóstico de PBS pode ser feíta durante a gravidez por meio de ultrassom obstétrico. A mortalidade nos primeiros meses de vida é alta.

Surgical approach to prune-belly syndrome: A review of our series and novel surgical technique.

INTRODUCTION: Surgical management of children with Prune-belly syndrome (PBS) can be divided into three categories: urinary tract reconstruction, abdominal wall reconstruction, and orchidopexy. Adequate repair of the abdominal wall by abdominoplasty at an early age, allows an adequate aesthetic appearance, but also allows a correct development of walking, breathing, defecation and urination. OBJECTIVE: To present a novel surgical technique for abdominal wall reconstruction, which combines plication with complete overlap of the fascia and neoumbilicoplasty with an island flap rotated on itself. STUDY DESIGN: A retrospective review of the patients with PBS who underwent surgery in our center between 2009 and 2020. A new abdominoplasty technique was performed, which consists of plication with complete overlap of the fascia, as well as a neoumbilicoplasty with an island flap rotated on itself. The skin is then well freed from the rest of planes, and the plication is performed with complete overlapping of the muscle-aponeurotic plane from one side to the other. At this time, the interposition of some type of reinforcement material (mesh) may be required in the event of complete absence or insufficient presence of the fascia and muscle. RESULTS: Abdominoplasty was performed in four patients. In all patients, bilateral orchidopexy was performed in the same surgical procedure for intra-abdominal testicles. The mean age of the patients at the time of surgery was 10,5 years and the average admission time was 4 days. There were no short-term or long-term complications. Average follow-up time was 7 years. All patients and their families are satisfied with the aesthetic result obtained. DISCUSSSION: Abdominoplasty in patients with PBS in addition to aesthetic reconstruction, brings significant improvements to wandering, breathing, urination and defecation, improving the quality of life of the patient. Compared to the techniques described, the abdominoplasty we propose makes it possible to easily improve the abdominal wall support by means of meshes or synthetic devices if necessary and allows the evaluation and correction of cryptorchidism or other associated renal abnormalities in the same surgical act, as it allows full abdominal exposure. Likewise our modified abdominoplasty allows the creation of the new umbilicus in a more anatomical way, rectifying its natural position. CONCLUSION: In our experience, this modified surgical technique for abdominal wall repair is a novel procedure in the PBS approach, easily reproducible, which provides good aesthetic results in our series of cases.

Prune belly syndrome in Finland - A population-based study on current epidemiology and hospital admissions.

BACKGROUND: Prune belly syndrome (PBS) is a multisystem disease characterized by absent or deficient abdominal musculature with accompanying lax skin, urinary tract abnormalities, and cryptorchidism. Previous studies have estimated a birth prevalence of 1 in 35,000-50,000 live births. OBJECTIVE: We set out to clarify the epidemiology and early hospital admissions of PBS in Finland through a population-based register study. Further, possible maternal risk factors for PBS were analyzed in a case-control setting. STUDY DESIGN: The Finnish Register of Congenital Malformations was linked to the Care Register for Health Care, a population-based hospital admission data for PBS patients. Additionally, five matched controls were identified in the Birth Register and maternal risk factors of PBS were studied utilizing data from the Drugs and Pregnancy database. RESULTS: We identified 31 cases of PBS during 1993-2015, 15 of which were live born and 16 elective terminations. The total prevalence was 1 in 44,000 births. Three patients (20%) died during infancy. On average, PBS-patients had 3.2 admissions and 10.6 hospital days per year in Finland during the study period years 1998-2015, 35- and 27-fold compared to children in Finland in general. Multiple miscarriages were significantly associated to PBS in maternal risk factor analyses. DISCUSSION: The burden of disease is significant in PBS, demonstrated as a high infant mortality rate (20%), multiple hospital admissions, and inpatient care in days. The available variables are limited as a register-based study. CONCLUSION: We present data on contemporary epidemiology in a population-based study and show that the total prevalence of PBS is 1 in 44,000 in Finland. PBS entails a significant disease burden with admissions and hospital days over 35- and 27-fold compared to the general pediatric population, further aggravated by an infant mortality rate of 20%.

The role of intra-abdominal pressure in human testicular migration

ABSTRACT Objectives: This review aims to study the role of the abdominal wall in testicular migration process during the human fetal period. Materials and Methods: We performed a descriptive review of the literature about the role of the abdominal wall in testicular migration during the human fetal period. Results: The rise in intra-abdominal pressure is a supporting factor for testicular migration. This process has two phases: the abdominal and the inguinal-scrotal stages. The passage of the testis through the inguinal canal occurs very quickly between 21 and 25 WPC. Bilateral cryptorchidism in Prune Belly syndrome is explained by the impaired contraction of the muscles of the abdominal wall; mechanical obstruction due to bladder distention and structural alteration of the inguinal canal, which hampers the passage of the testis during the inguinoscrotal stage of testicular migration. Abdominal wall defects as gastroschisis and omphaloceles are associated with undescended testes in around 30 to 40% of the cases. Conclusions: Abdominal pressure wound is an auxiliary force in testicular migration. Patients with abdominal wall defects are associated with undescendend testis in more than 30% of the cases probably due to mechanical factors; the Prune Belly Syndrome has anatomical changes in the anterior abdominal wall that hinder the increase of intra-abdominal pressure which could be the cause of cryptorchidism in this syndrome.

Respiratory support in the absence of abdominal muscles: A case study of ventilatory management in prune belly syndrome.

Prune belly syndrome (PBS) results in a total lack of abdominal musculature. Abdominal muscles have an important function during inspiration and expiration. This puts the patient at risk for respiratory complications since they have a very limited ability to cough up secretions. Patients in an intensive care unit (ICU) with PBS who receive mechanical ventilation are at even greater risk for respiratory complications. We review the function of the abdominal muscles in breathing and delineate why they are important in the ICU. We include an illustrative case of a long-term ventilated patient with PBS and offer respiratory management options.