Abstract
PRUNE BELLY SYNDROME ASSOCIATED WITH TRISOMY 21 AND MULTIPLE MALFORMATIONS: A CASE REPORT OF A COMPLEX MOROCCAN PEDIATRIC PATIENT
H. Ed-Dukar*, R. Abilkassem
ABSTRACT
Prune Belly Syndrome (PBS) is a rare congenital disorder characterized by abdominal wall hypoplasia, bilateral cryptorchidism, and obstructive uropathy. Its association with trisomy 21 is exceptionally rare. We report a 3-year-old Moroccan boy with syndromic PBS and confirmed trisomy 21, presenting with multiple visceral and neurological malformations. The patient had abdominal muscle hypoplasia, bilateral undescended testes, megaureters, and polycystic kidneys. Cardiac anomalies included partial atrioventricular canal defect and atrial septal defects. Neurological evaluation revealed schizencephaly, while audiometry demonstrated severe bilateral deafness. Despite recurrent urinary infections, renal function was preserved under prophylactic management. This case illustrates a rare syndromic association and emphasizes the importance of multidisciplinary care and genetic evaluation in complex presentations.
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