Which are the symptoms of Prune Belly Syndrome?

Prune Belly Syndrome, also known as Eagle-Barrett syndrome, is a rare congenital disorder that primarily affects males. It is characterized by a triad of symptoms, including abdominal muscle deficiency, urinary tract abnormalities, and undescended testicles.

Symptoms:

Abdominal Muscle Deficiency:

One of the key features of Prune Belly Syndrome is the absence or severe underdevelopment of the abdominal muscles. This results in a characteristic appearance where the abdomen is wrinkled, thin, and appears "prune-like". The lack of abdominal muscles can lead to a variety of complications, including difficulty breathing, poor posture, and weakened abdominal wall.

Urinary Tract Abnormalities:

Individuals with Prune Belly Syndrome often have malformations or abnormalities in the urinary tract. These can include enlarged kidneys, ureteral abnormalities (such as dilation or blockages), and bladder problems. These urinary tract abnormalities can lead to urinary tract infections, kidney damage, and urinary incontinence.

Undescended Testicles:

Another common symptom of Prune Belly Syndrome is undescended testicles (cryptorchidism). This means that one or both testicles fail to descend into the scrotum. Undescended testicles can increase the risk of testicular cancer and may require surgical intervention.

Other Possible Symptoms:

In addition to the main triad of symptoms, individuals with Prune Belly Syndrome may also experience other associated features, although these can vary widely. Some of these additional symptoms may include:

• Skeletal abnormalities: such as joint contractures, scoliosis, or clubfoot.


• Respiratory problems: due to the weakened abdominal muscles and poor lung development.


• Gastrointestinal issues: such as malrotation of the intestines or hernias.


• Cardiovascular abnormalities: including heart defects or abnormalities in blood vessels.


• Genital abnormalities: such as hypospadias (abnormal positioning of the urethral opening) or ambiguous genitalia.

Diagnosis and Treatment:

Prune Belly Syndrome is typically diagnosed prenatally or shortly after birth through ultrasound imaging, physical examination, and medical history evaluation. Genetic testing may also be conducted to identify any underlying genetic abnormalities.

As Prune Belly Syndrome affects multiple organ systems, a multidisciplinary approach is often required for treatment. The specific management plan depends on the severity of symptoms and associated complications. Treatment may involve:

• Surgical interventions: to correct urinary tract abnormalities, undescended testicles, or other associated issues.


• Medications: to manage urinary tract infections or other medical conditions.


• Physical therapy: to improve muscle strength and function.


• Regular monitoring: to assess kidney function, urinary tract health, and overall development.

Early intervention and ongoing medical care are crucial in managing Prune Belly Syndrome and minimizing potential complications.