Mellis C, Bale P M
J Pediatr. 1976 Feb;88(2):236-42. doi: 10.1016/s0022-3476(76)80988-2.
Five infants from three families died between the ages of 2 and 7 months with venocclusive disease of the liver. No dietary, toxic, or other extrinsic cause was uncovered. In one family the first infant was breast-fed; the second one received no breast milk. In two of the families the parents were cousins. All infants had some evidence of immune deficiency, including hypogammaglobulinemia in at least three, multiple infections especially Pnumocystis carnii and enteroviruses, and lymphoid tissues devoid of germinal centers and mature plasma cells. Other findings in some of the infants, not previously recorded in venoocclusive disease, were microcephaly, multiple small cerebral softening, and left atrial endocardial fibrosis. A congenital cause for venoocclusive disease is suggested in these cases.
来自三个家庭的五名婴儿在2至7个月大时死于肝静脉闭塞性疾病。未发现饮食、中毒或其他外部病因。在一个家庭中，第一个婴儿是母乳喂养；第二个婴儿没有吃母乳。在两个家庭中，父母是近亲。所有婴儿都有一些免疫缺陷的迹象，包括至少三名婴儿有低丙种球蛋白血症、多种感染，尤其是卡氏肺囊虫和肠道病毒感染，以及缺乏生发中心和成熟浆细胞的淋巴组织。一些婴儿的其他发现（以前在静脉闭塞性疾病中未记录）包括小头畸形、多处小的脑软化和左心房心内膜纤维化。这些病例提示肝静脉闭塞性疾病有先天性病因。
