Prune belly syndrome

Prune belly syndrome is a rare birth defect affecting about 1 in 30,000 births.^[1] About 96% of those affected are male. Prune belly syndrome is a congenital disorder of the urinary system, characterized by a triad of symptoms. The syndrome is named for the mass of wrinkled skin that is often (but not always) present on the abdomens of those with the disorder. Other names for the syndrome include Abdominal Muscle Deficiency Syndrome, Congenital Absence of the Abdominal Muscles, Eagle-Barrett Syndrome,^[2] Obrinsky Syndrome,^[3] Fröhlich Syndrome,^[4] or rarely, Triad Syndrome.

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Symptoms

• A partial or complete lack of abdominal muscles. There may be wrinkly folds of skin covering the abdomen.
• Undescended testicles in males
• Urinary tract abnormality such as unusually large ureters, distended bladder, accumulation and backflow of urine from the bladder to the ureters and the kidneys
• Frequent urinary tract infections due to the inability to properly expel urine.

Diagnosis

Prune belly syndrome can be diagnosed via ultrasound while a child is still in-utero.^[5] An abnormally large abdominal mass is the key indicator, as the abdomen swells with the pressure of accumulated urine. In young children, frequent urinary tract infections often herald prune belly syndrome, as they are normally uncommon. If a problem is suspected, doctors can perform blood tests to check kidney function. Another test that may reveal the syndrome is the "voiding cystourethrogram," in which a catheter is inserted into the urethra to fill the bladder with dye. An X-ray can detect if urine has a reverse flow into the ureters and kidneys (see example x-ray teaching file). Prune belly syndrome can also result in the distending and enlarging of internal organs such as the bladder and intestines. Surgery is often required to return these organs to their natural sizes.

A genetic predisposition has been suggested, and PBS is much more common when the baby is a twin, although all reported twin births have been discordant.

Treatment

The type of treatment, like that of most disorders, depends on the severity of the symptoms. One option is to perform a vesicostomy, which allows the bladder to drain through a small hole in the abdomen. A more drastic procedure is a surgical "remodeling" of the abdominal wall and urinary tract. Boys may have an orchiopexy, which moves the testicles to their proper place in the scrotum.

Even with treatment, many patients experience renal failure.

References

1. ^ Baird PA, MacDonald EC (1981). "An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive live births". Am. J. Hum. Genet. 33 (3): 470-8. PMID 6454342.
2. ^ . F. Eagle Jr, and G. S. Barrett; Jr: Congenital deficiency of abdominal musculature with associated genitourinary abnormalities: a syndrome; Reort of nine cases. Pediatrics, Evanston, Illinois, 1950, 6 (5): 721-736.
3. ^ W. Obrinsky. Agenesis of abdominal muscles with associated malformations of the genitourinary tract. A clinical syndrome. American Journal of Diseases of Children, Chicago, 1949, 77: 362-373.
4. ^ Frolich, F. Der Mangel der Muskeln, insbesondere der Seitenbauchmuskeln. Dissertation: Wurzburg 1839.
5. ^ synd/1499 at Who Named It