(Eagle-Barrett syndrome)

Sporadic. Male predominance. Seems to be associated with an anomaly of hepatic nuclear factor 1β (HNF1 β) the gene of which is located on chromosome 17. The pathophysiology involves either a total  or partial obstruction of the urethra (urethral valves) or an abnormal development of the mesoderm.

Association of:

-         absent anterior abdominal wall musculature ('belly skin of plum'), 

-         urinary abnormalities: dilation of bladder, ureters and the pyelocalyceal cavities: in some cases, renal dysplasia is associated.

-         bilateral cryptorchidism with intraabdominal testicles; However, a few female cases have been described.

Sometimes other anomalies are associated:

-         pulmonary hypoplasia (56%)

-         cardiovascular malformations (25%): tetralogy of Fallot, ASD, patent ductus arteriosus

-         gastrointestinal malformations (24%): malrotation, intestinal atresia, imperforate anus, omphalocele or gastroschisis, Cloaca

-          musculoskeletal-related problems (23%): scoliosis (hemivertebrae), clubfeet, polydactyly, arthrogryposis.

In case of antenatal diagnosis (oligohydramnios), inserting of a vesicoamniotic shunt can decompress the urinary system and avoid pulmonary hypoplasia. Perinatal mortality is high especially in case of pulmonary hypoplasia, prematurity or other co-morbidities.

Principles of treatment: 1) decompression of the urinary tract (intermittent catheterisation, vesicostomy) and prevention of urinary tract infections to preserve renal function. (2) strengthening of the abdominal wall to improve the sensation of bladder fullness and make the abdominal efforts more effective (valsalva manoeuver).

Approximately 30% of patients develop chronic renal failure (due to renal dysplasia or chronic pyelonephritis) and require a kidney transplant (mean age: between 7.7 and 13.5 years).

Anesthetic implications: 

monitor renal function. Pulmonary complications because cough is inefficient. Restrictive syndrome. Check the spinal XRay or ultrasound before performing a neuraxial block.

References : 

• Henderson AM, Vallis CJ, Sumner E. 
  Anaesthesia in the prune-belly syndrome. A review of 36 cases. 
  Anaesthesia 1987; 42:54-60.
• Heisler DB, Lebowitz P, Barst SM. 
  Pectus excavatum repair in a patient with prune belly syndrome. 
  Paediatr Anaesth 1994; 4: 267-9.
• Hassett S, Smith GHH, Holland AJA. 
  Prune belly syndrome. 
  Pediatr Surg Int 2012; 28: 219-28.

Updated: October 2018