Focal nodular hyperplasia masquerading as malignancy in an infant with elevated alpha-fetoprotein: A case report with literature review

Area of Science:

• Pediatric Gastroenterology and Hepatology
• Diagnostic Imaging
• Surgical Pathology

Background:

• Elevated alpha-fetoprotein (AFP) in infants typically raises concern for hepatoblastoma, a common pediatric liver malignancy.
• Focal nodular hyperplasia (FNH) is a benign liver lesion, usually diagnosed in adults, rarely presenting in infants.

Observation:

• A 6-month-old girl presented with an elevated AFP and a liver lesion, leading to a presumptive diagnosis of hepatoblastoma.
• Histopathological examination revealed features characteristic of FNH, inconsistent with malignancy.
• Hepatobiliary contrast-enhanced imaging was utilized to definitively rule out complex tumor types.

Findings:

• The case demonstrates a rare presentation of FNH in an infant.
• Diagnostic confusion arose due to the elevated AFP levels, mimicking malignant conditions.
• Advanced imaging and histopathology were crucial for accurate diagnosis and management.

Implications:

• This case underscores the importance of comprehensive diagnostic evaluation for pediatric liver masses, even with concerning biomarkers.
• It highlights the need to consider rare presentations of benign conditions in differential diagnoses.
• Accurate differentiation between FNH and hepatoblastoma is critical for appropriate treatment and patient outcomes.