Adrenocortical Carcinoma in a Child: A Diagnostic Challenge and Clinical Outcome

Abstract

AIMS: The aim of this case is to highlight the clinical presentation, diagnostic challenges and treatment outcomes of adrenocortical carcinoma (ACC) in a paediatric patient. It aims to emphasize the importance of early recognition of ACC in children, particularly with signs such as virilization and precocious puberty and to illustrate the role of multimodal treatment, including surgical resection and chemotherapy in improving survival outcomes. The case further underscores the need for ongoing follow-up to monitor for recurrence, as well as the challenges in managing this aggressive malignancy. Presentation of Case: We present a rare case of A 16-month-old female who presented with precocious puberty, signs of Cushing’s syndrome, and a palpable mass in the left lumbar region. Diagnostic workup confirmed stage 3 ACC with a thrombus in the renal vein extending to the suprarenal inferior vena cava (IVC). The child underwent surgical resection of the tumour, followed by chemotherapy. Initially, the child showed significant improvement with virilization regressing after just one cycle of treatment. Despite discontinuing further treatment, the child remained asymptomatic for two years. However, relapse occurred, and the child ultimately succumbed to respiratory failure. Conclusion: In children, the rapid onset of symptoms often leads to early detection; however, without prompt diagnosis and intervention, the condition can worsen rapidly. Diagnosis requires clinical evaluation, hormonal tests, imaging, and histopathological analysis. Complete surgical resection remains the gold standard, and while research into oncological treatments is ongoing, individualized care is essential, particularly for advanced or inoperable cases. Genetic testing can help assess prognosis for patients and their families.