Martins Sofia, Rocha Gustavo, Silva Goretti, Calistru Ana, Pissarra Susana, Guimarães Hercília
Serviço de Neonatologia, Unidade Autónoma de Gestão da Mulher e da Criança, Centro Hospitalar de S. João, Porto, Portugal.
Acta Med Port. 2011 Dec;24 Suppl 3:703-8. Epub 2011 Dec 31.
The 'blueberry muffin baby' designation was used to describe the cutaneous manifestations of congenital rubella. The differential diagnosis includes other TORCH infections, blood dyscrasias, neoplasms, or vascular disorders. We present a case of a newborn admitted at birth for presenting disseminated violaceous cutaneous nodules. Pregnancy was full term and without infectious complications, with prenatal diagnosis of restrictive intrauterine growth, hydramnios and suspected esophageal atresia. Maternal serology with no evidence of infection. The newborn blood study showed thrombocytopenia, direct hyperbilirubinemia, elevated transaminases and coagulopathy. During hospitalization he showed progressive hepatosplenomegaly. Skin biopsy showed extramedullary erythropoiesis. Myelogram revealed absence of megakaryocytic line precursors. The molecular analysis for cytomegalovirus in peripheral blood and bone marrow was positive. Cerebral ultrasound examination revealed bilateral calcifications and periventricular hyperechogenicity. The placental anatomopathological exam showed features suggestive of cytomegalovirus infection. On the fifth day of life was initiated ganciclovir. This case presentation is intended to emphasize that although it is a rare manifestation, congenital cytomegalovirus infection should be considered in the differential diagnosis of 'blueberry muffin baby'.
“蓝莓松饼宝宝”这一称谓用于描述先天性风疹的皮肤表现。鉴别诊断包括其他TORCH感染、血液系统疾病、肿瘤或血管疾病。我们报告一例新生儿，出生时因出现弥漫性紫蓝色皮肤结节而入院。妊娠足月且无感染并发症，产前诊断为胎儿宫内生长受限、羊水过多及疑似食管闭锁。母亲血清学检查无感染证据。新生儿血液检查显示血小板减少、直接胆红素血症、转氨酶升高及凝血功能障碍。住院期间，他出现进行性肝脾肿大。皮肤活检显示髓外造血。骨髓造影显示巨核细胞系前体细胞缺失。外周血和骨髓的巨细胞病毒分子分析呈阳性。脑部超声检查显示双侧钙化及脑室周围回声增强。胎盘病理检查显示提示巨细胞病毒感染的特征。出生后第5天开始使用更昔洛韦。本病例报告旨在强调，尽管这是一种罕见表现，但在“蓝莓松饼宝宝”的鉴别诊断中应考虑先天性巨细胞病毒感染。
