Prune belly syndrome

Prune belly syndrome is a rare birth defect affecting about 1 in 40,000 births. About 96% of those affected are male. Prune belly syndrome is a congenital disorder of the urinary system, characterized by a triad of symptoms. more...

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, and Obrinsky Syndrome.

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

Diagnosis

Prune belly syndrome is often diagnosed via ultrasound while a child is still in-utero. 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, all though 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.

Less intense cases can be delt with via multipul daily cathaderizations.

Even with treatment, many patients experience renal failure.

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