Congenital choledochal cyst and Noonan syndrome: case report

OBJECTIVE: To report the diagnosis of congenital choledochal cyst, an uncommon condition. During the investigation, Noonan syndrome was also diagnosed, which expanded the research to explore the possible association between Noonan syndrome and congenital choledochal cyst, with few reports of this association described in the literature. CASE REPORT: A preterm male newborn born to a primigravida mother had a prenatal ultrasound (USG) performed at 22 weeks suggesting the presence of a choledochal cyst. At birth, the baby presented early jaundice and a palpable mass in the upper abdomen, in addition to multiple malformations, including facial dysmorphisms, ocular and breast hypertelorism, cardiac anomalies, and cryptorchidism. Abdominal ultrasound confirmed the presence of an intrahepatic choledochal cyst, while echocardiography showed significant biventricular hypertrophic cardiomyopathy, moderate interventricular communication and wide ductus arteriosus. Laboratory tests showed an increase in direct bilirubin and an increase in Prothrombin Activity Time (PAT). Genetic evaluation raised the suspicion of Noonan syndrome, confirmed by genetic analysis, which revealed a heterozygous pathogenic variant in the PTPN11 gene. Unfortunately, the patient died before surgical intervention to correct the choledochal cyst was possible. CONCLUSION: This report highlights the importance of a multidisciplinary approach involving neonatologists, pediatric gastroenterologists, pediatric cardiologists, geneticists, pediatric ultrasonographers and fetal ultrasonographers in the management of these complex cases. It also highlights the need for greater awareness of this rare association in the medical community.