El Qadiry R, Ouayad A, Nassih H, Bourrahouat A, Ait Sab I
Pediatric B Department, Mother-Child Pole, Mohammed VI University Hospital, Marrakesh, Morocco.
Case Rep Endocrinol. 2021 May 22;2021:6161508. doi: 10.1155/2021/6161508. eCollection 2021.
Pituitary stalk interruption syndrome (PSIS) is a very rare entity, and the clinical manifestations are nonspecific. Neonatal cholestasis due to endocrine disorders is rare and poorly recognized. Our case report describes a case of PSIS in a Moroccan infant revealed by isolated neonatal cholestasis, which is an unusual presentation in children. . A 40-day-old girl was admitted to our department for progressive cholestatic jaundice appeared on the third day of life. She was born from a non-consanguineous marriage, and her prenatal and perinatal history went without incident. Physical examination showed icteric skin and sclera, without hepatomegaly. Analysis of pituitary hormones revealed panhypopituitarism. On brain magnetic resonance imaging (MRI), the pituitary stalk was absent, the posterior pituitary was ectopic, and the anterior pituitary was hypoplastic. The patient was diagnosed with interrupted pituitary stalk syndrome. The treatment consisted of hormone replacement with rapid improvement of her clinical condition. . Panhypopituitarism, a consequence of PSIS, is a rare cause of neonatal cholestasis. However, pediatricians should keep this syndrome in mind for patients who present with neonatal cholestasis.
垂体柄中断综合征（PSIS）是一种非常罕见的病症，其临床表现缺乏特异性。因内分泌紊乱导致的新生儿胆汁淤积症很罕见，且认识不足。我们的病例报告描述了一名摩洛哥婴儿，其因孤立性新生儿胆汁淤积症而被诊断为PSIS，这在儿童中是一种不寻常的表现。一名40日龄女童因出生后第三天出现进行性胆汁淤积性黄疸入住我们科室。她出生于非近亲结婚家庭，产前和围产期病史无异常。体格检查发现皮肤和巩膜黄染，无肝肿大。垂体激素分析显示全垂体功能减退。脑部磁共振成像（MRI）显示垂体柄缺如，垂体后叶异位，垂体前叶发育不全。该患者被诊断为垂体柄中断综合征。治疗包括激素替代治疗，其临床状况迅速改善。全垂体功能减退是PSIS的后果，是新生儿胆汁淤积症的罕见病因。然而，儿科医生对于出现新生儿胆汁淤积症的患者应牢记这一综合征。
