Summary about Disease
Eagle-Barrett syndrome, also known as prune belly syndrome, is a rare congenital disorder primarily affecting males. It is characterized by a triad of features: deficient abdominal wall musculature (resulting in a wrinkled or "prune-like" appearance of the abdomen), cryptorchidism (undescended testicles), and urinary tract abnormalities, often including hydronephrosis (swelling of the kidneys due to urine buildup) and a dilated bladder. The severity of these features can vary greatly.
Symptoms
Abdominal Wall: Absence or deficiency of abdominal muscles, leading to a wrinkled or "prune-like" appearance of the abdomen. Protruding abdomen.
Genitourinary: Cryptorchidism (undescended testicles, usually bilateral), enlarged bladder, dilated ureters (hydroureter), hydronephrosis (swelling of the kidneys). Frequent urinary tract infections (UTIs), bladder dysfunction, and potential renal failure.
Other: Possible skeletal abnormalities (e.g., clubfoot, hip dislocation), cardiac defects, pulmonary hypoplasia (underdeveloped lungs), intestinal malrotation.
Causes
The exact cause of Eagle-Barrett syndrome is not fully understood. It is generally considered to be multifactorial, potentially involving a combination of genetic and environmental factors that disrupt fetal development. Most cases are sporadic, meaning they occur randomly without a clear family history. A few cases have been linked to specific genetic mutations, but these are rare. Theories suggest it may involve early mesodermal development.
Medicine Used
There is no single "medicine" that cures Eagle-Barrett syndrome. Treatment focuses on managing the specific symptoms and complications affecting each individual.
Antibiotics: To treat urinary tract infections.
Medications for Bladder Dysfunction: Anticholinergics or other medications to help manage bladder spasms or improve bladder emptying.
Pain Management: Analgesics for pain relief as needed.
Medications for Kidney Support: As kidney function declines, medications to manage blood pressure, fluid balance, and electrolyte imbalances may be required.
Is Communicable
No, Eagle-Barrett syndrome is not communicable. It is a congenital disorder, meaning it is present at birth and is not caused by an infectious agent.
Precautions
There are no specific precautions to prevent Eagle-Barrett syndrome, as its cause is not fully understood and it's generally considered a sporadic condition. Genetic counseling may be considered for families with a history of congenital abnormalities. Prenatal care and regular ultrasounds during pregnancy can help detect potential problems. Focus on managing symptoms that appear.
How long does an outbreak last?
Eagle-Barrett syndrome is not an "outbreak" or infectious disease. It's a congenital condition that is present from birth and is a life long condition that requires constant management.
How is it diagnosed?
Diagnosis of Eagle-Barrett syndrome is typically made based on clinical findings and confirmed through various investigations:
Prenatal Ultrasound: May detect abdominal wall defects, hydronephrosis, or other abnormalities.
Physical Examination: Identification of the characteristic triad of abdominal wall deficiency, cryptorchidism, and urinary tract issues.
Imaging Studies:
Ultrasound: To evaluate the kidneys, bladder, and other abdominal organs.
Voiding Cystourethrogram (VCUG): To assess bladder function and detect vesicoureteral reflux (backflow of urine into the ureters).
Intravenous Pyelogram (IVP): To visualize the urinary tract.
MRI or CT Scan: For more detailed imaging of the abdominal and pelvic organs.
Genetic Testing: May be considered to rule out specific genetic syndromes, although a specific gene mutation is rarely identified.
Timeline of Symptoms
Symptoms are present at birth or shortly thereafter. The timeline of symptom manifestation is not applicable for a congenital condition.
Important Considerations
Multidisciplinary Care: Management of Eagle-Barrett syndrome requires a multidisciplinary team, including neonatologists, pediatric urologists, pediatric surgeons, nephrologists, and other specialists.
Surgical Interventions: Surgery may be necessary to correct cryptorchidism (orchiopexy), address urinary tract abnormalities, or improve abdominal wall function.
Long-Term Monitoring: Lifelong monitoring of kidney function and management of urinary tract issues are crucial.
Psychological Support: Families affected by Eagle-Barrett syndrome may benefit from psychological support and counseling.
Variability: The severity of the condition varies widely among individuals, so treatment plans need to be tailored to each patient's specific needs.