A case report of a preterm infant with KBG syndrome and hepatoblastoma

Abstract

Background

KBG syndrome is a rare autosomal dominant genetic disease characterized by facial dysmorphism, developmental disorders, and short stature. The syndrome is caused by the haploinsufficiency of the ankyrin repeat domain-containing protein 11 (ANKRD11). Recently, there have been concerns that ANKRD11 serves as a tumor suppressor gene. Herein, we report a patient with KBG syndrome, diagnosed with hepatoblastoma at 21 months of age, which required chemotherapy and liver transplantation.

Case report

A male infant born by cesarean section at 29⁺¹ weeks of gestation, weighing 1220 g, was diagnosed with pulmonary atresia with ventricular septal defect and large patent ductus arteriosus. Bilateral low-set ears with a preauricular skin tag, left microtia, swelling of left neck, single umbilical artery, bilateral undescended testis, large anterior fontanelle, and bilateral club foot were noted. At a corrected age (CA) of 7 months, exome sequencing was performed, and a heterozygous nonsense pathogenic variant of ANKRD11 was found (c.7195C > T, p.Gln2399∗). Therefore, KBG syndrome was confirmed. At CA of 18 months, the patient presented with lethargy, poor oral intake, and jaundice symptoms and was diagnosed with hepatoblastoma. He received 12 cycles of chemotherapy for 9 months, but multiple hepatic masses remained; therefore, liver transplantation was performed at 28 months of age.

Conclusions

KBG syndrome is a rare genetic disorder that has been identified relatively recently, and not all characteristics have yet been identified. The study of our case may provide evidence of cancer risk in patients with KBG syndrome.