Moreira Marta, Brás Rafael, Gonçalves Daniela, Alencoão Inês, Inocêncio Gonçalo, Rodrigues Maria, Braga Jorge
Department of Obstetrics, Centro Materno Infantil do Norte - Centro Hospitalar Universitário do Porto, Porto, Portugal.
Ultrasound Q. 2018 Mar;34(1):32-33. doi: 10.1097/RUQ.0000000000000335.
Enlargement of the fetal spleen is usually found secondary to systemic diseases and is frequently associated with hepatomegaly. By far, the most common causes of fetal splenomegaly are infectious. Other etiologies responsible for this sign are hemolytic anemia, congestive cardiac failure, metabolic disorders, and rarely, leukemia, lymphoma, and histiocytosis.We report a case of prenatal splenomegaly diagnosed at 35 weeks, confirmed in the postnatal period. The postnatal workup showed the newborn had a familial type 3 form of hemophagocytic lymphohistiocytosis (HLH).Hemophagocytic lymphohistiocytosis is an aggressive and life-threatening syndrome of excessive immune activation. The genes implicated in the hereditary forms of the disease act in an autosomal recessive fashion.
胎儿脾脏肿大通常继发于全身性疾病，且常与肝脏肿大相关。迄今为止，胎儿脾肿大最常见的原因是感染。导致这种体征的其他病因包括溶血性贫血、充血性心力衰竭、代谢紊乱，以及罕见的白血病、淋巴瘤和组织细胞增多症。我们报告一例在孕35周诊断出的产前脾肿大病例，产后得到确诊。产后检查显示该新生儿患有家族性3型噬血细胞性淋巴组织细胞增生症（HLH）。噬血细胞性淋巴组织细胞增生症是一种过度免疫激活的侵袭性且危及生命的综合征。与该疾病遗传形式相关的基因以常染色体隐性方式起作用。
