Prune-Belly Syndrome

Genetics
Written By Maladywise
 

SUMMARY: Prune-Belly / Eagle-Barett Syndrome does not involve actual prunes or eagles. It is called Prune-Belly reflecting the characteristic wrinkled appearance of the abdomen due to the lack of abdominal muscles.

Fact Sheet

Classic triad

  • Abdominal muscle deficiency

  • Severe urinary tract abnormalities

  • Bilateral cryptorchidism in males (undescended testicles)

Incidence

Between 2 to 4 cases per 100,000 people, most commonly in males

Genetics

Not known. Suggested to be an X-linked recessive defect due to the predominance of males

Cause

Abnormal mesoderm development during embryogenesis (the middle layers of cells in a growing embryo are busted, these go on to form the heart, gut, kidneys and bone)

What’s affected?

Kidneys

  • Dysplasia (abnormal cells) leads to scarring, atrophy, reflux nephropathy and recurrent kidney infections.

Urogenital Tract

  • Abnormalities of ureters, prostate, bladder and testicles

    • Ureters are usually very long, dilated, tortuous and kinky due to replacement of muscle with fibrous tissue

    • The bladder is usually enlraged and thick-walled

    • Prostate is hypoplastic (underdeveloped)

    • Testicles regularly undescended

Abdominal Wall

  • Hypoplasia (underdevelopment) of abdominal muscles

Clinical

Abdomen

  • Prune-belly appearance

  • Malrotation of the midgut means mobile caecum, long colon and risk of volvulus (bowel twisting)

  • Hindgut abnormalities including anus or rectum issues

Kidney

  • 50% of patients develop Chronic Kidney Disease

Urogenital

  • Most men have bilateral undescended testis and an empty scrotum

  • Retrograde ejaculation common

  • Urinary tract infections common

Pulmonary Hypoplasia (Underdeveloped lungs)

  • Most significant complication

Other Issues

  • Chronic constipation

  • Impaired Exercise Tolerance

  • Poor Growth

  • Anus and Rectal malformations

  • Splenic Torsion

  • Musculoskeletal anomalies

Imaging

Ultrasound is the preferred imaging choice and can show dilated bladder and ureters, hydronephrosis (stretched kidneys), polycystic kidneys, hypoplastic lungs (underdeveloped)

Diagnosis

Based on clinical findings

Management

Antenatal management

  • In severe cases of obstruction of the ureters, foetal shunt surgery may happen

Postnatal management

  • Sometimes early surgery to improve urine drainage and stop infections

End-stage Kidney disease

  • Kidney transplant has been successful and long-term outcomes are excellent

  • Hemodialysis and peritoneal dialysis are both effective

Surgery

  • Orchiopexy to bring down testicles

  • Abdominal wall reconstruction

  • Bladder and ureter surgeries

Prognosis

Generally poor prognosis

  • 20% of cases result in foetal death

  • 50% of cases did not survive to the age of 2 years

Reference

 
Maladywise https://www.maladywise.org
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