Sahoo Tanushree, Thukral Anu, Agarwal Ramesh, Sankar Mari Jeeva
Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
BMJ Case Rep. 2015 Jan 23;2015:bcr2014206852. doi: 10.1136/bcr-2014-206852.
Galactosaemia is a disorder of galactose metabolism in which raised levels of galactose and galactose-1-phosphate damage various organs. Although galactosaemia is a common metabolic liver disease in childhood, it is a rare cause of neonatal hyperbilirubinemia requiring intervention. We report an unusual case of neonatal galactosaemia that at presentation had features of acute bilirubin encephalopathy requiring exchange transfusion and at discharge had features of chronic bilirubin encephalopathy. This case report emphasises the need for timely suspicion and diagnosis of this disease for prevention of chronic morbidity.
半乳糖血症是一种半乳糖代谢紊乱疾病，其中半乳糖和1-磷酸半乳糖水平升高会损害各个器官。虽然半乳糖血症是儿童期常见的代谢性肝病，但它是需要干预的新生儿高胆红素血症的罕见病因。我们报告了一例不寻常的新生儿半乳糖血症病例，该病例在就诊时具有需要换血治疗的急性胆红素脑病特征，出院时具有慢性胆红素脑病特征。本病例报告强调了及时怀疑和诊断该病以预防慢性发病的必要性。
