Doughy belly… Spot diagnosis?

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Image Source: Instagram

The above image is of a baby suffering from Prune belly or Eagle-Barrett syndrome (PBS), which is a congenital defect with a rare incidence of 1 in 40,000 live births. It has a male predisposition. Prune belly syndrome is best characterized by a triad of clinical features:

● Abdominal muscle deficiency, exhibiting as the wrinkled abdominal skin
● Severe urinary tract abnormalities
● Bilateral cryptorchidism in males (undescended testicles)

Although PBS is defined by the clinical triad, its features are not limited to the triad. It may have variable effects on the cardiac, pulmonary, gastrointestinal, and musculoskeletal systems, making it a multisystem disorder.

Why is it called ‘Prune belly’ syndrome?

The picture of the baby’s abdomen is the answer to this question!
It is named after the wrinkled abdominal skin in the neonates which is due to the abnormality of the abdominal musculature. Beyond childhood, the abdomen acquires a smooth potbelly appearance, owing to the lack of abdominal muscles.

PBS is both sporadic and familial. The former is more common. PBS has some associations with chromosomal anomalies, particularly with trisomy 21.
The exact mechanism behind this syndrome remains unknown. Theories and observations suggest a role of urological obstruction in the baby during prenatal life which leads to a high-pressure system, dislocating the ureters and affecting the kidneys (renal dysplasia may be seen). The overdistended bladder may hamper the descent of the testis and the developmental process of the abdominal wall muscles.

The symptoms and outcome of the PBS depend upon the severity of the urological anomalies. If the urinary obstruction is severe, oligohydramnios ensues, which may lead to potter sequence i.e. pulmonary hypoplasia, dysmorphic facies, limb hypoplasia, etc.
The severity determines the effects on the kidneys, consequently, it can lead to intrauterine death or stillbirth. Some babies may survive enough to see the light of the world, only to eventually succumb to death a few months after birth. For the surviving babies, the clinical features may immensely vary according to the graveness of the disease. Other than the triad, the patient may

  • – have a bulge in the lower abdomen due to distended bladder.
  • – have poor cough mechanism
  • – have constipation 
  • – have visible impressions of intestines through the skin of the belly as the abdominal muscles are absent.
  • – have empty scrotum (no testes in baby boys).
  • – have difficulty sitting upright or walking.
  • – have a higher chance of urinary tract infections (UTIs).
  • – have other congenital malformations.

PBS is usually a pre-natal diagnosis, visible around 12 weeks of gestation. Sometimes the features may remain obscured till the later quarter of the pregnancy.

After birth, the baby should undergo renal and bladder ultrasound, Contrast voiding cystourethrography (VCUG) to detect the presence and grade of the vesicoureteral reflux. Other tests include an intravenous pyelogram (IVP), renal scans and blood tests. Tests to scan other systems for potential involvement may be necessary.

Management is largely dependent upon the severity, acuteness, and defects that are present. Supportive treatment, antibiotics, surgical repair of the urinary tract abnormalities, closure of the abdominal wall, and correction of cryptorchidism are the management goals that are achieved by a multidisciplinary team in gradual steps.

Food for thought:

If one sibling has PBS, does it increase the chances in other siblings?
PBS is genetic. If one child has PBS, the chances are higher than normal in the siblings of the affected child.

References

Israel Franco, M. F. (2020, January 17). Prune Belly Syndrome. Retrieved from Medscape: https://emedicine.medscape.com/article/447619-overview

Manfred Wallner, M. K. (2019, October 30). Prune-belly syndrome. Retrieved from UpToDate: https://www.uptodate.com/contents/prune-belly-syndrome?search=prune%20belly%20syndrome&source=search_result&selectedTitle=1~19&usage_type=default&display_rank=1

professional07/08/2016., C. C. (2016, 08 07). Prune Belly Syndrome. Retrieved from Cleveland Clinic: https://my.clevelandclinic.org/health/diseases/16231-prune-belly-syndrome

Tagore, K. R., Ramineni, A. K., Vijaya Lakshmi, A. R., & N, B. (2011). Prune belly syndrome. Case reports in pediatrics, 2011, 121736. https://doi.org/10.1155/2011/121736

Seidel NE, Arlen AM, Smith EA, Kirsch AJ. Clinical manifestations and management of prune-belly syndrome in a large contemporary pediatric population. Urology. 2015 Jan. 85 (1):211-5.

Prune Belly Syndrome. National Organization for Rare Disorders. Available at https://rarediseases.org/rare-diseases/prune-belly-syndrome/. Accessed: January 10, 2017.

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Dr. Arsia Parekh
Dr. Arsia Hanif has been a meritorious Healthcare professional with a proven track record throughout her academic life securing first position in her MCAT examination and then, in 2017, she successfully completed her Bachelors of Medicine and Surgery from Dow University of Health Sciences. She has had the opportunity to apply her theoretical knowledge to the real-life scenarios, as a House Officer (HO) serving at Civil Hospital. Whilst working at the Civil Hospital, she discovered that nothing satisfies her more than helping other humans in need and since then has made a commitment to implement her expertise in the field of medicine to cure the sick and regain the state of health and well-being. Being a Doctor is exactly what you’d think it’s like. She is the colleague at work that everyone wants to know but nobody wants to be. If you want to get something done, you approach her – everyone knows that! She is currently studying with Medical Council of Canada and aspires to be a leading Neurologist someday. Alongside, she has taken up medical writing to exercise her skills of delivering comprehensible version of the otherwise difficult medical literature. Her breaks comprise either of swimming, volunteering services at a Medical Camp or spending time with family.

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