Simpson-Golabi-Behmel syndrome type 1 in a neonate with central hepatoblastoma

Document Type

Article

Publication Title

BMJ Case Reports

Abstract

We report a neonate evaluated for hepatomegaly during hospitalisation and was diagnosed to have hepatoblastoma, an uncommon childhood malignancy. The presence of dysmorphism, macrosomia and congenital heart defect led to the suspicion of congenital overgrowth conditions. The genetic evaluation revealed a pathogenic variant, conclusive of Simpson-Golabi-Behmel syndrome type 1 (SGBS1). The child was treated with neoadjuvant chemotherapy followed by central hepatectomy and is currently in remission. We discuss the predisposing syndromes for hepatoblastoma, as the neonatal onset of malignancy in the setting of dysmorphism and congenital anomalies led us to the molecular diagnosis. Children with multisystem involvement require interdisciplinary care, which is detailed. The role of neoadjuvant chemotherapy in facilitating extensive liver resection and the use of technological advancement like intraoperative imaging that can aid definitive resection is discussed. Long-term follow-up for surveillance of primary cancers is crucial in the comprehensive care of cancer-predisposing conditions, the recommendations of which are listed.

DOI

10.1136/bcr-2024-262331

Publication Date

1-29-2025

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