Demeocq F, Storme B, Schaison G, Bezou M J, Bourges M, Chassagne J
Arch Fr Pediatr. 1983 Oct;40(8):631-5.
The case of an infant with bone marrow dysfunction and exocrine pancreatic deficiency is reported. Bone marrow dysfunction presented at birth, with a refractory sideroblastic anemia later associated with neutropenia and thrombocytopenia. Erythroid and myeloid precursors had a marked cytoplasm vacuolization and very poor in vitro growth. The exocrine pancreatic deficiency was shown by the pancreozymin-secretin stimulation test and by the study of fat digestion. This case report is different from Shwachman's syndrome, but similar to a syndrome of unknown etiology, recently described by Pearson in 4 children. The normality of immune investigations and of the culture of T lymphocyte precursors, in our patient, shows that the bone marrow dysfunction spares the lymphoid lineage. The simultaneous occurrence of bone marrow and pancreatic cells dysfunction suggests either a process acquired during embryonic life, or a gene mutation with pleiotropic effects.
报告了1例患有骨髓功能障碍和外分泌性胰腺功能不全的婴儿病例。骨髓功能障碍在出生时即出现，随后出现难治性铁粒幼细胞性贫血，并伴有中性粒细胞减少和血小板减少。红系和髓系前体细胞有明显的细胞质空泡化，体外生长很差。胰泌素-促胰液素刺激试验和脂肪消化研究显示存在外分泌性胰腺功能不全。本病例报告与施瓦赫曼综合征不同，但与皮尔逊最近在4名儿童中描述的一种病因不明的综合征相似。我们患者的免疫检查和T淋巴细胞前体细胞培养结果正常，表明骨髓功能障碍未累及淋巴系。骨髓和胰腺细胞功能障碍同时出现提示可能是胚胎期获得的一种过程，或者是具有多效性的基因突变。
