Aladjidi N, Casanova J L, Canioni D, Valensi F, Brousse N, Blanche S, Fischer A
Department of Pediatrics, Hôpital Necker Enfants-Malades, Paris, France.
J Pediatr. 1998 Apr;132(4):600-5. doi: 10.1016/s0022-3476(98)70346-4.
We report severe aplastic anemia of neonatal onset diagnosed in six girls between 1985 and 1995 in a single center. Initial blood cell counts (mean age 3.8 days old, 1 to 15 days) showed thrombocytopenia (six of six), anemia (four of six), and neutropenia (two of six). Neutrophil counts gradually decreased below 0.5 x 10(9)/L, and severe aplastic anemia occurred in three patients by 3 months of age and in all patients by 1 year of age. Lymphocyte number and functions were normal. In all children bone marrow biopsy showed hypocellularity for age and absence of fibrosis, blasts, lymphocytic infiltrates, and cytologic abnormalities. Blood and medullary cytogenetic studies were normal. A search for known constitutional, viral, or toxic causes was negative. Immunosuppressive therapy failed to restore hematopoiesis (three of six). Five children received a bone marrow transplantation at an average age of 9 months (range 2.7 to 29 months). One child is alive and well after a human leukocyte antigen-identical bone marrow transplantation, whereas the other four died. Both congenital onset and the high rate of familial involvement suggest that this condition may be inherited.
我们报告了1985年至1995年期间在单一中心诊断出的6例新生儿期起病的严重再生障碍性贫血女孩病例。初始血细胞计数（平均年龄3.8天，1至15天）显示血小板减少（6例均有）、贫血（6例中的4例）和中性粒细胞减少（6例中的2例）。中性粒细胞计数逐渐降至0.5×10⁹/L以下，3例患者在3个月龄时出现严重再生障碍性贫血，所有患者在1岁时均出现。淋巴细胞数量和功能正常。所有儿童的骨髓活检显示年龄相关的细胞减少，无纤维化、原始细胞、淋巴细胞浸润和细胞学异常。血液和骨髓细胞遗传学研究正常。对已知的先天性、病毒或毒性病因的检查均为阴性。免疫抑制治疗未能恢复造血功能（6例中的3例）。5名儿童平均在9个月龄（范围2.7至29个月）时接受了骨髓移植。1名儿童在接受人类白细胞抗原相同的骨髓移植后存活且状况良好，而其他4名儿童死亡。先天性起病和家族性受累的高发生率均提示这种疾病可能是遗传性的。
