What Other Abnormalities are Associated with Prune Belly Syndrome?
A general pediatrician on-call for a regional children’s hospital received a telephone call from a physician in a distant emergency room.
The physician said, “Do you know this 5 month old boy with Eagle-Barrett syndrome?
Well today he has a fever to 103° Celsius, and has been having some emesis.
I’ve already done his laboratory work and his urine has too numerous to count white blood cells, some red blood cells and bacteria on the gram stain.
He also has a total white blood cell count of 18,500 with a 72% left shift and his CRP is 4.5. Looks like he has pyelonephritis again.
I’ve already done his blood and urine cultures and given him some ceftriaxone.
I’d like to transfer him to your institution because you usually care for him there.”While the emergency room physician was talking, the pediatrician was trying to remember what Eagle-Barrett syndrome was.
When the pediatrician asked, the emergency room physician replied, “Oh, it’s Prune Belly syndrome that’s why you guys take care of him.”The general pediatrician suddenly realized the significance of all the other information that the emergency room physician had given him, and also that he was not the appropriate pediatrician to be contacted at the children’s hospital.
After asking a couple more questions about the patient’s status and treatment and arranging the transportation to the children’s hospital,
the pediatrician told the emergency room physician, “I’m not a nephrologist and these children are usually taken care of by them. I am going to contact the nephrologist and if he has any other questions or suggestions for treatment he will call you back directly.
The child most likely will be going to the nephrology service but we will work that problem out here.
If you have any other questions, you can call me back or can call the nephrologist.”After finishing, the general pediatrician contacted the nephrologist who agreed that the diagnosis of pyelonephritis was logical and that the patient was being appropriately treated.
He also agreed to admit the child onto the nephrology service.
The patient’s clinical course showed that he had Pseudomonas pyelonephritis that was treated successfully with ciprofloxacin.
Prune Belly syndrome is characterized by various anatomical urinary tract anomalies, cryptorchism and deficiency of abdominal wall musculature. It has a characteristic distended abdomen with wrinkled skin which gives rise to the name.
This syndrome was first described in 1839 by Frohlich. In 1950 Eagle and Barrett described 9 cases and later other physicians suggested Eagle-Barrett syndrome as an alternative eponym.
The incidence is approximately 1:40,000 live births. Females can have an incomplete form of the syndrome but obviously cannot have cryptorchism. They may have other genital abnormalities such as vaginal agenesis, hydrocolpos, and bicornuate uterus.
The severity varies from lethality in utero, to children with abnormal musculature and undescended testes but with normal renal function.
Patients may be identified in utero because of screening ultrasounds or because of uterine measurements being small for dates secondary to decreased urine production.
In the neonatal period, the infants usually present with the characteristic shriveled abdominal skin.
Urological abnormalities include:
- Cryptorchidism – testes usually at the level of the iliac vessels.
- Urethra – anterior is usually normal, posterior is often dilated. Some have posterior urethral valves.
- Prostate is absent or hypoplastic
- Epididymis, vas deferens and seminal vesicles are often abnormal and contribute to infertility
- Bladder is smooth walled, may be dilated, have diverticula or patent urachus,
- Urachus is patent
- Ureters are often are dilated, elongated and tortuous with little or no peristalsis. Vesicoureteral reflux is found in 70% of patients.
- Kidneys may be dyplastic or have multicystic dysplastic kidney disease. Amount of renal parenchymal disease determines ultimate renal function
The treatment is a combination of medical and surgical interventions.
Surgery may include a variety of urinary diversion and reconstructive surgeries to improve urinary stasis and prevent infections. Early orchiopexy is indicated.
Abdominoplasty may also be indicated.
Medical treatment includes monitoring and treatment of renal insufficiency as well as prophylactic antibiotics to decrease infections.
Other associated abnormalities for patients with Prune Belly syndrome include:
- Anorectal abnormalities – atrial septal defect, Tetrology of Fallot, ventriculoseptal defect
- Cardiac abnormalities
- Gastrointestinal abnormalities
- Constipation – because of poor abdominal musculature
- Hirschsprung disease
- Imperforate anus
- Malrotation and volvulus
- Omphalocoele and gastroschisis
- Stenosis and atresia
- Motor developmental delay – because of poor abdominal musculature poorly assisting movement and balance
- Orthopaedic abnormalities
- Developmental hip dislocation
- Congenital verticle talus
- Pectus excavatum
- Sacral Agenesis
- Respiratory problems
- Pulmonary hypoplasia and neonatal problems such as respiratory distress syndrome
- Respiratory infections – because of poor abdominal musculature
Questions for Further Discussion
1. What are the indications and preferred type of dialysis in patients with Prune Belly syndrome?
2. In general, what are the indications for kidney transplant?
3. How are misdirected telephone communications handled at your own institution and how could they be improved?
4. What are good resources for looking up medical eponyms?
To Learn More
To view pediatric review articles on this topic from the past year check PubMed.
To view current news articles on this topic check Google News.
To view images related to this topic check Google Images.
Prune belly syndrome.
Semin Pediatr Surg. 2000 Aug;9(3):115-20.
Rudolph CD, et.al. Rudolph’s Pediatrics. 21st edit. McGraw-Hill, New York, NY. 2003:1737-38.
Mahajan JK, Ojha S, Rao KL.
Prune-belly syndrome with anorectal malformation.
Eur J Pediatr Surg. 2004 Oct;14(5):351-4.
Abdominal Muscles, Absence of, with Urinary Tract Abnormality and Cryptorchidism. Online Mendelian Inheritance in Man.
Available from the Internet at: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100100 Page(rev. 9/7/2007, cited 8/11/08)
Franco I. Prune Belly Syndrome. eMedicine.
Available from the Internet at http://www.emedicine.com/med/TOPIC3055.HTM (rev. 1/18/2008, cited 8/13/08).
ACGME Competencies Highlighted by Case
1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
2. Essential and accurate information about the patients’ is gathered.
3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
4. Patient management plans are developed and carried out.
7. All medical and invasive procedures considered essential for the area of practice are competently performed.
8. Health care services aimed at preventing health problems or maintaining health are provided.
9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.
10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.
18. Using effective nonverbal, explanatory, questioning, and writing skills, the healthcare professional uses effective listening skills and elicits and provides information.
19. The health professional works effectively with others as a member or leader of a health care team or other professional group.
20. Respect, compassion, and integrity; a responsiveness to the needs of patients and society that supercedes self-interest; accountability to patients, society, and the profession; and a commitment to excellence and on-going professional development are demonstrated.
22. Sensitivity and responsiveness to patients’ culture, age, gender, and disabilities are demonstrated.
25. Quality patient care and assisting patients in dealing with system complexities is advocated.
26. Partnering with health care managers and health care providers to assess, coordinate, and improve health care and how these activities can affect system performance are known.
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa Children’s Hospital
September 8, 2008