Nobili Valerio, Pietrobattista Andrea, Francalanci Paola, Giovannoni Ilaria, Marcellini Matilde, Vento Sandro
Bambino Gesu Children's Hospital, S.Onofrio 4 square, Rome, 00165, Italy.
BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.08.2008.0623. Epub 2009 Feb 26.
A 1-month-old child presented to our unit with jaundice and raised aminotransferases, γ-glutamyltranspeptidase and bilirubin. Metabolic diseases were ruled out and ultrasound found no alterations. Human herpesvirus type 6 (HHV-6) DNA was found in blood and saliva and IgG anti-HHV-6 in serum, and a diagnosis of HHV-6 hepatitis was made. In the following weeks, aminotransferase values remained raised while γ-glutamyltranspeptidase levels returned to normal in 45 days. At the age of 5 months symptoms and elevated aminotransferases persisted and immunohistochemistry performed on liver tissue allowed a diagnosis of progressive familiar intrahepatic cholestasis type 2 to be made. The patient is now 7 months old, and cholestatic jaundice and pruritus continue to be present.
一名1个月大的婴儿因黄疸、转氨酶、γ-谷氨酰转肽酶和胆红素升高前来我院就诊。排除了代谢性疾病,超声检查未发现异常。血液和唾液中检测到人类疱疹病毒6型(HHV-6)DNA,血清中检测到抗HHV-6 IgG,诊断为HHV-6肝炎。在接下来的几周里,转氨酶值持续升高,而γ-谷氨酰转肽酶水平在45天内恢复正常。5个月大时,症状和转氨酶升高持续存在,对肝组织进行免疫组化检查后诊断为2型进行性家族性肝内胆汁淤积症。患者现在7个月大,胆汁淤积性黄疸和瘙痒仍然存在。