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中国循证儿科杂志

中国循证儿科杂志 ›› 2018, Vol. 13 ›› Issue (5): 359-363.

• 论著 • 上一篇    下一篇

以新生儿胆汁淤积症为首要表现的垂体柄阻断综合征4例

李玉川1,谢新宝1，2,陆怡1,赵静1,方微园1,库尔班江阿布都西库尔1,张雪媛1,王建设1   

  1. 1 复旦大学附属儿科医院肝病中心 上海，201102；2 复旦大学附属儿科医院医联体徐汇区大华医院 上海，200237
  • 收稿日期:2018-10-29 修回日期:2018-10-25 出版日期:2018-10-25 发布日期:2018-10-25
  • 通讯作者: 谢新宝

Four Chinese cases of pituitary stalk interruption syndrome with neonatal cholestasis as initial presentation

LI Yu-chuan1, XIE Xin-bao1,2, LU Yi1, ZHAO Jing1, FANG Wei-yuan1, Kuerbanjiang Abuduxikuer1, ZHANG Xue-yuan1, WANG Jian-she1   

  1. 1 The Center for Pediatric Liver Disease, Children's Hospital of Fudan University, Shanghai 201102, China; 2 Dahua Hospital of Xuhui District, Medical Association of Children's Hospital of Fudan University, Shanghai 200237, China
  • Received:2018-10-29 Revised:2018-10-25 Online:2018-10-25 Published:2018-10-25
  • Contact: XIE Xin-bao

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摘要： 目的：探讨以新生儿胆汁淤积症为首要表现的垂体柄阻断综合征（PSIS）的临床特点，提高对PSIS的认识。方法：对4例以新生儿胆汁淤积症起病的PSIS患儿的临床特点、实验室检查、肝脏组织病理检查、影像学表现及预后进行回顾性分析。结果：男3例，女1例，均以新生儿胆汁淤积症为首要表现，诊断年龄2～3月龄。4例均表现为胆汁淤积、低血糖和生长发育迟缓。隐睾和小阴茎各1例。4例总胆红素均升高，以直接胆红素升高为主，丙氨酸转氨酶（ALT）和天冬氨酸转氨酶（AST）均升高，以AST升高更明显，γ-谷氨酰转移酶均正常，总胆汁酸均升高；4例均存在肾上腺皮质功能减退，3例生长激素缺乏，2例中枢性甲状腺功能减退。2例行肝组织活检，肝脏病理提示肝细胞气球样变并相互融合形成多核巨细胞，肝细胞内胆汁淤积，毛细胆管内胆栓形成，免疫组化胆盐输出泵在1例无表达，1例部分表达。4例垂体MRI均未显示垂体柄、垂体后叶异位，3例垂体前叶发育不良。4例均予氢化可的松口服治疗，2例甲状腺功能减退的患儿予左甲状腺素钠口服替代治疗。随访4～19个月，4例患儿肝功能正常，甲状腺激素水平、皮质醇水平正常，未出现严重感染，生长发育水平较正常同年龄同性别儿童落后。结论：新生儿期表现为胆汁淤积症、低血糖的患儿应警惕PSIS，垂体MRI有助于明确诊断；早期诊断和治疗可改善PSIS的预后。

Abstract: Objective:To explore the clinical characteristics of pituitary stalk interruption syndrome with neonatal cholestasis as the initial presentation, and improve the understanding of this disease. Methods:The clinical manifestations, laboratory examination, liver histopathology, imaging findings and prognosis of 4 children with pituitary stalk interruption syndrome initially presented as neonatal cholestasis were retrospectively reviewed. Results:Four patients, 3 males and 1 female, all initially complained of cholestasis in the neonatal period. The diagnostic age ranged from 2 to 3 months. All patients presented with cholestasis, hypoglycemia, and growth retardation. One male patient was accompanied with cryptorchidism, and another male patient with a micropenis. The total bilirubin increased in 4 patients, with direct bilirubin increased mainly, alanine aminotransferase and glutamate aminotransferase increased, and glutamate transaminase increased significantly, all patients had normal γ-glutamyltransferase and elevated total bile acid. All 4 children had adrenocortical hypofunction, 3 children had growth hormone deficiency, 2 children had central hypothyroidism.Two patients underwent liver biopsy, the liver histopathology suggested that hepatic cells underwent balloon-like changes and fused with each other to form multi-nuclear giant cells, hepatocellular and canalicular cholestasis were also found, immunohistochemical examination showed that there was no expression of BSEP in one patient and partial expression in another. The MRI showed that the absence of pituitary stalk and ectopia of the posterior pituitary were present in all 4 patients, anteriorpituitary hypoplasia was present in 3 patients. Glucocoricoid replacement therapy was given to the 4 patients, and 2 of the patients with hypothyroidism were treated with oral levothyroxinesodium. During a follow-up period of 4 to 19 months, the 4 children had normal liver function, normal thyroid hormone level and cortisol level, and no serious infection, and the growth and development level was lagging behind the normal children of the same age and gender. Conclusion:For the children presenting with cholestasis and hypoglycemia in neonatal period, the pituitary stalk interruption syndrome should be alerted, and pituitary MRI is helpful for diagnosis. Early diagnosis and early treatment can improve the prognosis of the disease.