Ibi Kyosuke, Shitara Yoshihiko, Adachi Natsuho, Tanaka Hiroyuki, Takahashi Naoto
Pediatrics, The University of Tokyo Hospital, Tokyo, JPN.
Cureus. 2025 Mar 11;17(3):e80425. doi: 10.7759/cureus.80425. eCollection 2025 Mar.
Congenital hyperinsulinism (CHI) and neonatal cholestasis (NC) are occasionally observed in neonatal settings; however, the causes have not been identified despite thorough investigation. Surgical evaluation is essential for patients with cholestasis to rule out biliary atresia because timely surgical intervention is critical. Few case reports have described the co-occurrence of CHI and NC. Herein, we report a case of a boy born as one of dichorionic-diamniotic twins via planned cesarean delivery. Apparent ischemic events were not present, with Apgar scores of 8 and 9 at one and five minutes, respectively; however, the umbilical artery blood gas pH was 7.17. He experienced a hypoglycemic attack on day two and was diagnosed with CHI. The patient was put on diazoxide therapy, following which his blood glucose levels were stable without intravenous glucose infusion. However, cholestasis was observed from day 14. Workups did not indicate any specific clinical condition, and biliary atresia was ruled out on day 44 by cholangiography. He exhibited prolonged fasting hypoglycemia because of lipid malabsorption until he recovered from cholestasis. He was free of diazoxide at 16 months of age and subsequently acquired normal physical and mental development. This case highlights the potential co-occurrence of CHI and NC. The etiologies remain unidentified; however, both may have resulted from perinatal distress. Hypoglycemic episodes prior to the diagnosis of CHI may also trigger cholestasis. Transient CHI can be accompanied by benign NC, and such patients can experience persistent hypoglycemia and require nutritional management until the cholestasis is relieved.
先天性高胰岛素血症（CHI）和新生儿胆汁淤积症（NC）在新生儿期偶尔可见；然而，尽管进行了全面调查，病因仍未明确。对于胆汁淤积症患者，手术评估对于排除胆道闭锁至关重要，因为及时的手术干预至关重要。很少有病例报告描述CHI和NC同时出现的情况。在此，我们报告一例通过计划剖宫产出生的双绒毛膜双羊膜囊双胞胎男孩。未出现明显的缺血事件，1分钟和5分钟时阿氏评分分别为8分和9分；然而，脐动脉血气pH值为7.17。他在第二天发生了低血糖发作，被诊断为CHI。患者接受了二氮嗪治疗，此后其血糖水平稳定，无需静脉输注葡萄糖。然而，从第14天开始观察到胆汁淤积。检查未显示任何特定的临床情况，44天时通过胆管造影排除了胆道闭锁。由于脂肪吸收不良，他出现了长时间的空腹低血糖，直到胆汁淤积症恢复。他在16个月大时停用了二氮嗪，随后获得了正常的身心发育。该病例突出了CHI和NC可能同时出现的情况。病因仍未明确；然而，两者可能均由围产期窘迫引起。CHI诊断前的低血糖发作也可能引发胆汁淤积。短暂性CHI可伴有良性NC，此类患者可能会出现持续性低血糖，需要进行营养管理直至胆汁淤积症缓解。
