Chan U, Chan Wai-Tao, Ting Wei-Hsin, Ho Che-Sheng, Liu Hsi-Che, Lee Hung-Chang
Division of Gastroenterology and Nutrition, Department of Pediatrics, MacKay Children's Hospital, Taipei, Taiwan MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan Division of Endocrinology and Metabolism, Department of Pediatrics, MacKay Children's Hospital, Taipei, Taiwan Division of Neurology, Department of Pediatrics, MacKay Children's Hospital, Taipei, Taiwan Division of Hematology-Oncology, Department of Pediatrics, MacKay Children's Hospital, Taipei, Taiwan MacKay Medical College, Taipei, Taiwan.
Medicine (Baltimore). 2017 Apr;96(17):e6757. doi: 10.1097/MD.0000000000006757.
Septo-optic dysplasia (SOD) is a rare congenital disorder that may cause jaundice in infants. However, it is usually prone to neglect and misdiagnosis in infants with cholestasis because endocrine disorder such as panhypopituitarism is rare in the cause of infantile cholestasis. We report a case of SOD concurrent with acquired cytomegalovirus (CMV) infection, who presented with prolonged jaundice as the first clinical sign.
The patient was a 2-month-old male infant who presented with cholestasis, combined with fever and panhypopituitarism.
He was diagnosed with SOD and acquired CMV infection.
He was treated with hormone replacement therapy and ganciclovir.
After correction of the pituitary hormone deficiency and ganciclovir treatment, significant improvements of cholestasis, retinal lesions, and growth rate were seen in our patient.
Although an endocrine disorder such as panhypopituitarism is rare in the cause of neonatal or infantile cholestasis, we must keep this reason in mind.
视隔发育不良（SOD）是一种罕见的先天性疾病，可能导致婴儿黄疸。然而，在胆汁淤积的婴儿中，它通常容易被忽视和误诊，因为在婴儿胆汁淤积的病因中，全垂体功能减退等内分泌紊乱很少见。我们报告一例SOD并发获得性巨细胞病毒（CMV）感染的病例，该病例以长期黄疸作为首发临床症状。
该患者为一名2个月大的男婴，表现为胆汁淤积，并伴有发热和全垂体功能减退。
他被诊断为视隔发育不良和获得性巨细胞病毒感染。
对他进行了激素替代治疗和更昔洛韦治疗。
在纠正垂体激素缺乏并进行更昔洛韦治疗后，我们的患者胆汁淤积、视网膜病变和生长速度均有显著改善。
尽管全垂体功能减退等内分泌紊乱在新生儿或婴儿胆汁淤积的病因中很少见，但我们必须牢记这一原因。
