Dual presentation of metastatic gestational trophoblastic neoplasia in mother and infant: an infrequent diagnostic challenge

Gestational trophoblastic neoplasia (GTN) rarely presents concurrently in mother and infant, with very few cases reported worldwide. We describe an infant who presented with vomiting, lethargy and hepatomegaly. Emergency ultrasound revealed hepatomegaly, and contrast-enhanced CT showed large bilobar hepatic lesions with central necrosis and multiple bilateral pulmonary nodules. Despite supportive care, the infant's condition deteriorated, resulting in death. Post-mortem liver biopsy confirmed metastatic GTN. Shortly thereafter, the mother developed neurological symptoms; brain MRI revealed a haemorrhagic lesion, and chest CT demonstrated pulmonary metastases. Elevated serum beta-human chorionic gonadotropin (β-hCG) confirmed metastatic choriocarcinoma. MRI was not performed in the infant due to the rapid clinical decline and the need for prolonged sedation, which posed significant risk. This case highlights the importance of considering GTN in infants with atypical hepatic and pulmonary lesions, especially when there is a recent maternal pregnancy. Early β-hCG testing and timely imaging can facilitate diagnosis and improve outcomes for both mother and child.