Plum belly syndrome in children causes symptoms and treatment

Prune Belly Syndrome in children is a very rare condition, but it can cause significant concern for parents, especially when they notice weak abdominal muscles and a protruding, sagging belly. The condition doesn’t just affect the appearance of the abdomen—it can also lead to kidney and urinary tract problems, and affect fertility in boys if not treated early. In this Daly Medical article, we’ll discuss in detail the causes of Prune Belly Syndrome, its symptoms, medical diagnostic methods, available treatments—both medication and surgery—as well as essential tips for managing the child and minimizing complications, so parents can be well-prepared and respond appropriately.

1- What is Prune Belly Syndrome?
Prune Belly Syndrome (PBS) is a rare condition present at birth, where a child’s abdominal muscles are very weak or almost absent, causing the belly to appear saggy and wrinkled, resembling a dried prune.

2- Is it hereditary?
The exact cause is still unclear, but some studies suggest it may be linked to congenital defects or genetic factors in certain families.

3- Do all children have the same severity?
No, PBS varies in severity:

Mild: Simple symptoms, fewer complications.
Moderate: May affect the bladder or kidneys.
Severe: Significant kidney and urinary tract issues, often requiring surgery.

4- What are the most serious complications?
The most serious risks involve the kidneys and urinary tract, which can lead to kidney failure if not treated early.

5- Is there a medication-based treatment?
Medications don’t fix the underlying cause, but they help relieve symptoms such as urinary tract infections or constipation.

6- Does surgery completely cure the condition?
Surgery improves the appearance of the belly, corrects hernias or undescended testes, and may include kidney or bladder procedures if needed. Ongoing follow-up with a doctor is essential throughout life.

7- Can the child live a normal life?
Yes. With early diagnosis and proper treatment, most children can lead a normal life, especially if kidney function is preserved.

8- Can the child fully recover from the syndrome?
Since PBS is a congenital condition, there’s no “complete cure.” However, early treatment and surgery allow the child to live a very normal life and minimize complications.

What is Prune Belly Syndrome (PBS)?
PBS is extremely rare, affecting about 1 in every 50,000 children. It impacts the abdominal muscles, bladder, and testes. Its name comes from the saggy, wrinkled appearance of the abdomen in some children, resembling a dried prune.

Approximately 95% of children with PBS are male. The syndrome is characterized by three main features, called the “Prune Belly Triad”:

Weak or absent abdominal muscles.
Undescended testes in boys.
Dilated urinary tract, which can lead to kidney damage and bladder problems.

Children with PBS are born with a congenital condition called fetal urine retention. At birth, the bladder is often overfilled, which can cause kidney failure in 10–20% of cases. Reduced amniotic fluid due to retained urine can also affect lung development.

Some children have normal kidney function at birth but require lifelong monitoring to maintain health.

PBS is also known as Eagle-Barrett Syndrome or the “Triad Syndrome.” In the United States, around 1,500 children under 18 live with PBS, and nearly half (40–60%) have additional congenital defects.

Types of Prune Belly Syndrome in Children
Not all children with PBS present the same way or with the same severity. Doctors classify PBS into different types:

Classic Form (Complete Form)

Most common type.
Features all three main symptoms: weak/absent abdominal muscles, urinary tract issues (bladder enlargement or ureteral obstruction), and reproductive system defects (e.g., undescended testes in boys).

Partial Form

Milder symptoms.
Some abdominal muscles are present but weak.
Minor urinary or reproductive issues may appear.
The child may live a normal life with simple medical follow-up.

Syndromic Form (Associated with Other Congenital Defects)

Accompanied by defects in other systems like the digestive tract (intestinal obstruction), respiratory system, heart, or bones.
The most severe type, affecting multiple organs.

Causes of Prune Belly Syndrome in Children
PBS is a rare congenital condition that usually develops during fetal growth. The exact cause is unknown, but several factors may contribute:

Abnormal abdominal muscle development during pregnancy: Weak or underdeveloped abdominal muscles cause a saggy, distended belly.
Urinary tract obstruction: Blockage or narrowing in the urinary tract (especially in males) can cause bladder and kidney enlargement, affecting abdominal shape.
Genetic factors: Some studies suggest a hereditary predisposition, particularly when similar cases exist in the family.
Kidney and urinary system abnormalities: Impaired urine flow causes the bladder to expand abnormally, impacting abdominal appearance and function.
Environmental factors during pregnancy (less common): Exposure to certain infections or medications may increase the risk of PBS.

⚠️ Complications of Prune Belly Syndrome in Children
Prune Belly Syndrome (PBS) not only changes the appearance of the belly but can also cause serious health problems if left untreated or not properly monitored. Key complications include:

Urinary Tract Issues

Abnormally enlarged bladder.
Urine reflux from the bladder to the kidneys.
Recurrent urinary tract infections.
Can lead to kidney failure if untreated.

Weak Abdominal Muscles

Saggy, very weak abdomen.
Internal organs are less protected.
Higher risk of abdominal or umbilical hernia.

Kidney Problems

Urine flow obstruction or impaired drainage.
Kidney stone formation.
Gradual kidney failure in severe cases.

Reproductive Issues in Boys

Undescended testes (Undescended Testes).
May affect future fertility if not surgically corrected.

Respiratory and Digestive Problems (in some cases)

Weak abdominal muscles put pressure on internal organs.
Difficulty breathing in some children.
Constipation or slow bowel movements.

Psychological and Social Impact

Abnormal belly appearance may cause parental anxiety.
Child may feel different as they grow, needing psychological support.

Diagnosis of Prune Belly Syndrome in Children
PBS is often diagnosed during routine prenatal ultrasounds. If not detected before birth, the distinctive belly appearance and scrotal examination make diagnosis easier after birth.

In children with mild symptoms, the first sign may be urinary tract infections, prompting additional tests:

Key Diagnostic Tests:

Renal and Bladder Ultrasound (RBUS): Uses sound waves to view the kidneys and bladder, detecting hydronephrosis and bladder size.
Voiding Cystourethrogram (VCUG): A catheter fills the bladder with contrast while fluoroscopy monitors for urine reflux and detects urinary tract obstructions during urination.
MAG 3 Renal Scan: Measures kidney function and obstruction levels. A special radioactive tracer is injected and scanned with a rotating imaging device.
Magnetic Resonance Urography (MRU): Radiation-free imaging giving detailed views of kidneys, ureters, and bladder, useful for complex urinary tract anomalies.
Video Urodynamics: Assesses bladder filling and emptying, evaluating bladder outlet function and contractions.
Blood Tests: Monitor kidney function and detect early signs of damage.

Stages of Prune Belly Syndrome in Children
PBS presents differently in each child. Doctors classify it into four main stages based on severity:

Early Stage

Diagnosed via prenatal ultrasound or at birth.
Mild bladder enlargement or urine reflux.
Obvious abdominal muscle weakness.
Undescended testes in boys.

Progressive Stage

Symptoms increase with growth.
Urination problems like difficulty or retention.
Belly appears more saggy and wrinkled.
Recurrent urinary infections may appear.

Advanced Stage

Severe abdominal muscle weakness, internal organs visible or sagging.
Major kidney problems, including progressive kidney failure.
Frequent urinary infections.
Breathing difficulties in some children due to organ pressure on the lungs.

Syndromic Stage

Syndrome is part of a genetic defect or multiple congenital anomalies.
May involve heart, digestive, or respiratory systems.
Requires continuous monitoring by a multidisciplinary team (urology, pediatric surgery, cardiology, nephrology).

Symptoms of Prune Belly Syndrome in Children
PBS has very distinctive signs, allowing early diagnosis:

Weak or Absent Abdominal Muscles

Saggy, very loose belly.
Wrinkled skin resembling a dried prune.
Visible abdominal distention in some cases.

Urinary Tract and Kidney Problems

Abnormally enlarged bladder.
Dilated ureters.
Urinary reflux.
Recurrent urinary infections.
Severe cases can progress to kidney failure if untreated.

Reproductive Issues (mainly in boys)

Over 90% of cases are male.
Undescended testes.
Abnormal genital development.

Additional Symptoms

Breathing difficulty due to abdominal pressure on the diaphragm.
Poor overall growth.
Constipation or digestive problems.
Rare bone or limb deformities.

Medical Treatment of Prune Belly Syndrome in Children
Medications do not treat the underlying cause (a congenital defect in abdominal muscles and urinary system) but help relieve symptoms and protect the kidneys:

Antibiotics

Prevent recurrent urinary tract infections.
Especially important if the bladder does not fully empty or urine reflux occurs.

Bladder and Urinary Medications

Regulate bladder contractions and improve urine flow.
Sometimes diuretics are prescribed to stimulate the kidneys and prevent urine retention.

Gastrointestinal Medications

Treat chronic constipation: mild laxatives or drugs improving bowel movement.

Nutritional Supplements

Vitamin D and calcium for bone and muscle growth.
Supplements to boost immunity and support normal development.

Surgical Treatment (Surgery)
Surgery is the primary treatment for PBS, especially in moderate to severe cases. Goals include:

Protecting the kidneys.
Improving urinary and digestive function.
Repairing abdominal wall shape and function.

Main Surgical Procedures:

Abdominal Wall Reconstruction: Strengthens abdominal muscles and protects internal organs.
Urologic Surgery: Repairs vesicoureteral reflux, widens narrow urinary passages, removes obstructions.
Mesh or Muscle Graft: Provides additional support in cases of severe abdominal wall weakness.
Kidney Surgeries: Correct severe kidney damage; in rare cases, kidney transplant may be needed.

Important Notes:

Not all children require the same surgery; the plan depends on severity.
Some children need multiple staged operations.
Post-surgery follow-up is essential to monitor kidney function, bladder, digestive system, and abdominal wall integrity.

Supportive Care
Supportive care aims to improve quality of life and prevent complications, complementing medical or surgical treatment:

Regular Medical Follow-up: Routine exams of kidneys, bladder, and digestive system.
Physiotherapy: Strengthen abdominal and back muscles, improve breathing in children with muscle weakness.
Nutritional Support: Balanced diet rich in proteins, vitamins, and adequate hydration.
Infection Prevention: Teaching parents and children proper hygiene and bladder emptying habits.
Psychological and Social Support: Help the child adapt, build confidence, and reduce anxiety about body image.

Nutritional Support:
A healthy, balanced diet rich in proteins and vitamins, along with adequate water intake, is essential to support growth and overall health.

Infection Prevention:
Teach parents how to detect urinary tract infections early and encourage the child to urinate regularly to reduce the risk of complications.

Psychological and Social Support:
Help the child adapt to their medical condition and build self-confidence, fostering emotional well-being.

Long-term Follow-up:
Children often require ongoing monitoring even after surgery to ensure proper kidney and bladder function.

Prognosis
The outlook for children with Prune Belly Syndrome depends on the severity of the condition and the timeliness of medical intervention:

Mild to Moderate Cases:
Children can lead nearly normal lives with regular medical follow-up, especially if urinary tract infections are controlled and kidney function is preserved.

Severe Cases:
The prognosis depends on the extent of kidney and lung involvement. Children with kidney failure or severe respiratory problems may require intensive interventions.

With Early Surgical Intervention:
Many children experience significant improvements in bladder and digestive function, reducing the risk of long-term complications.

Long-term Monitoring:
Essential to prevent kidney failure or recurring infections, often involving a multidisciplinary team (urology, nephrology, surgery, physiotherapy).

Quality of Life:
With proper medical care and parental commitment to follow-up and support, many children achieve good levels of growth and normal development.

Managing Children with Prune Belly Syndrome
Caring for a child with Prune Belly Syndrome requires patience and special attention, as they are prone to issues like weak abdominal muscles and urinary tract infections. Key management strategies include:

Regular Medical Follow-up

Routine check-ups with a pediatric urologist and pediatrician.
Periodic imaging such as ultrasounds or X-rays to monitor kidney and bladder health.
Prompt treatment of any urinary infections to prevent complications.

Proper Nutrition

Balanced diet rich in proteins, vitamins, and minerals to support growth.
Adequate water intake to reduce urinary infections.
Limit salt and processed foods that may strain the kidneys.

Physical Activity and Physiotherapy

Physiotherapy strengthens abdominal muscles and improves mobility.
Light exercises under medical supervision help prevent spine or abdominal issues.

Infection Prevention

Maintain proper genital hygiene.
Regular diaper changes for infants.
Teach the child proper urination habits to ensure complete bladder emptying as they grow.

Psychological and Social Support

Encourage the child and help them feel normal among peers.
Psychological support reduces anxiety or embarrassment about abdominal appearance or surgical procedures.

Preparation for Surgery if Needed

In moderate to severe cases, surgery is an important part of treatment.
Understanding the surgical plan, stages, and potential complications helps parents confidently support their child post-surgery.