Growing Up With Prune Belly Syndrome In A Resource Poor Setting

Abstract

Background: Prune belly syndrome is a rare genetic birth defect affecting 1 in 40,000 births. It comprises a triad of clinical conditions namely deficient abdominal wall muscles, undescended testes and urinary tract abnormalities. It affects 97% of males and it's associated with other congenital anomalies especially of the musculoskeletal system.
Case Presentation: A three year eleven month old male patient with Prune belly syndrome is presented. His abnormalities were noticed at birth but up till his 4th year of life, he has had minimal care due to financial constraints. The ultrasound revealed absence of anterior abdominal wall muscles. Both kidneys showed gross pelvicalyceal dilatation, mildly dilated ureters, thickening of the urinary bladder without intraluminal mass. Testicles were not seen in the scrotal sac or abdominal cavity. The liver and spleen were normal. Apart from urine microscopy, which showed evidence of Urinary tract infection, other relevant investigations like renal function tests have not been done because of financial constraints.
Management and challenges: His current medical care comprises prophylaxis for urinary tract infections using trimethoprim / sulphamethoxazole. He has also developed urinary retention which we relieve intermittently. The grandmother who is the primary care giver is trying to save money to take care of his cryptorchidism which she considers most problematic. The challenges here are for the care givers as well as the physicians who are confronted with the enormous task of taking care of a child with congenital abnormality against a backdrop of lack of resources and a cultural environment that is almost intolerant of dysmorphology.

Keywords : Dysmorphology, Prune belly syndrome, Financ constraint, Challenge, Nigeria