Prune belly syndrome

Prune belly syndrome

Prune Belly Syndrome

Prune Belly Syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare congenital disorder characterized by a triad of symptoms: a deficiency or absence of abdominal muscles, undescended testicles (cryptorchidism) in males, and urinary tract abnormalities. The syndrome primarily affects males, with a male-to-female ratio of approximately 20:1.

Signs and Symptoms

The primary features of Prune Belly Syndrome include:

• Abdominal muscle deficiency: The absence or severe underdevelopment of abdominal muscles leads to a wrinkled appearance of the abdomen, resembling a prune, hence the name.
• Cryptorchidism: In males, the testicles fail to descend into the scrotum.
• Urinary tract abnormalities: These can include dilation of the ureters (megaureter), bladder, and urethra, leading to urinary tract infections and potential kidney damage.

Other associated symptoms may include:

• Pulmonary hypoplasia
• Gastrointestinal malformations
• Musculoskeletal abnormalities

Causes

The exact cause of Prune Belly Syndrome is not well understood. It is believed to result from a combination of genetic and environmental factors. Some cases have been linked to mutations in the CHRM3 gene, which plays a role in the development of the urinary tract.

Diagnosis

Diagnosis of Prune Belly Syndrome is typically made through a combination of prenatal ultrasound and postnatal physical examination. Prenatal ultrasound may reveal characteristic features such as a distended bladder and lack of abdominal muscles. Postnatal diagnosis involves a thorough physical examination and imaging studies such as ultrasound, X-ray, and MRI to assess the extent of urinary tract abnormalities.

Treatment

Treatment for Prune Belly Syndrome is tailored to the individual and may involve:

• Surgical correction of abdominal wall defects
• Orchiopexy to address cryptorchidism
• Management of urinary tract abnormalities, which may include surgical intervention to correct obstructions or reflux, and antibiotic prophylaxis to prevent infections

Prognosis

The prognosis for individuals with Prune Belly Syndrome varies widely depending on the severity of the condition and the presence of associated anomalies. Early diagnosis and appropriate management can improve outcomes, but some individuals may experience chronic kidney disease or other long-term complications.

Related Pages

• Congenital disorder
• Cryptorchidism
• Urinary tract infection
• Kidney disease
• Abdominal muscles