Kosmeri Chrysoula, Rallis Dimitrios, Baltogianni Maria, Bouza Helen, Lykopoulou Lilia, Lianou Loukia, Papadopoulou Eleni, Tzanoudaki Marianna, Farmaki Evangelia, Papadakis Vassilios, Giapros Vasileios, Makis Alexandros
Neonatal Intensive Care Unit.
B' Neonatal Intensive Care Unit.
J Pediatr Hematol Oncol. 2023 May 1;45(4):e506-e509. doi: 10.1097/MPH.0000000000002551. Epub 2022 Sep 20.
A term neonate presented with persistent severe thrombocytopenia, elevated liver enzymes, conjugated hyperbilirubinemia, hepatosplenomegaly, and mild hypotonia.
A thorough workup for infections, congenital thrombocytopenias, and neonatal malignancies was negative. Because of increased anti-SARS-CoV-2 IgG antibodies after maternal COVID-19, multisystem inflammatory syndrome of neonates was considered and intravenous immunoglobulin was administered. The clinical condition of the neonate deteriorated and due to laboratory evidence of hyperinflammation, hemophagocytic lymphohistiocytosis was suspected, and treatment with etoposide and dexamethasone was initiated with temporary stabilization. Gaucher disease type 2 was eventually diagnosed.
Gaucher disease can rarely present in neonates as hemophagocytic lymphohistiocytosis.
一名足月儿出现持续性严重血小板减少、肝酶升高、结合胆红素血症、肝脾肿大及轻度肌张力低下。
针对感染、先天性血小板减少症及新生儿恶性肿瘤进行的全面检查均为阴性。由于母亲感染新冠病毒后新生儿抗SARS-CoV-2 IgG抗体增加，考虑为新生儿多系统炎症综合征并给予静脉注射免疫球蛋白。新生儿临床状况恶化，鉴于存在高炎症的实验室证据，怀疑为噬血细胞性淋巴组织细胞增生症，开始使用依托泊苷和地塞米松治疗，病情暂时稳定。最终诊断为2型戈谢病。
戈谢病在新生儿中很少表现为噬血细胞性淋巴组织细胞增生症。
