Pediatric Ectopic Cushing Syndrome Caused by Hepatic Neoplasms: A Case Report and Systematic Review

Area of Science:

• Pediatric Endocrinology
• Oncology
• Medical Imaging

Background:

• Ectopic adrenocorticotropic hormone (ACTH) syndrome (EAS) is a rare condition in children, often presenting diagnostic challenges for tumor localization.
• Cushing syndrome in pediatric patients necessitates prompt diagnosis and management to prevent long-term complications.

Observation:

• An adolescent male presented with Cushingoid features and confirmed endogenous ACTH-dependent hypercortisolism.
• Initial imaging suggested a hepatic hemangioma, but ⁶⁸Ga-DOTANOC PET/CT was non-avid.
• Selective venous sampling confirmed a hepatic source of ACTH, with biopsy revealing a neuroendocrine tumor.

Findings:

• A primary hepatic neuroendocrine tumor (PHNET) was identified as the source of ectopic ACTH production.
• The patient underwent successful partial hepatectomy, achieving hormonal and clinical remission of Cushing syndrome.
• A systematic review indicated calcifying nested stromal epithelial cell tumors are common in pediatric EAS, but PHNETs can be misdiagnosed as hemangioma.

Implications:

• Accurate localization of ectopic ACTH sources in children is crucial for effective management.
• Somatostatin receptor scintigraphy can aid in diagnosing PHNETs, differentiating them from benign lesions like hemangiomas.
• Surgical resection of hepatic tumors causing EAS offers a potential cure, with benign PHNETs demonstrating favorable long-term outcomes.