Abstract
Introduction
Horseshoe malformation is the most common form of fusion defects involving the kidney, whereas Wilm's tumor is the most common primary malignant renal tumor in children. The co-incidence of these two pathologies gives off an incidence rate of 0.48%.
Case Report
This is a case of a two-year-old female who presented early in life with multiple congenital anomalies including congenital heart disease, bilateral aniridia, persistent thrombocytopenia, and sickle cell trait in association with a painless abdominal mass. A CT scan showed a horseshoe kidney. The patient was lost for follow up until the age of two years, in which another CT scan revealed a left lower pole focal cystic mass measuring 5.1x5.3x6.3cm. WAGR syndrome was suspected and confirmed through genetic testing. A multidisciplinary approach was necessary to manage her efficiently due to the numerous co-existing congenital pathologies. The patient underwent six cycles of chemotherapy leading to a 35% reduction in tumor size and a left nephrectomy. She was admitted to the pediatric ICU post-operatively for observation. Histopathological analysis revealed features of stage two stromal type nephroblastoma. Her renal function and urine output were satisfactory throughout the duration of her admission as well as on follow up.
Conclusions
Keeping a high index of suspicion is imperative; individuals with renal anomalies, namely horseshoe kidney in the context of WAGR syndrome, mandate a comprehensive assessment through clinical examination, laboratory workup, and imaging. Though different approaches to standard Wilm's tumor cases have been explored thoroughly, it is crucial to keep in mind the need for multidisciplinary involvement in patients with multiple congenital anomalies.
The perlman syndrome: Familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies
