Hadjiyannakis A, Fletcher W A, Lebrun D P, van Wylick R C, Dow K E
Department of Pediatrics, Queen's University, Kingston, Ontario, Canada.
Am J Perinatol. 1998;15(12):689-94. doi: 10.1055/s-2007-999303.
We report a case of a neonate who presented with hypoxic ischemic encephalopathy, persistent hypoglycemia and hypotension, intractable metabolic acidosis, renal failure and a coagulopathy but who, at autopsy, was found to have massive infiltration of nonhematopoietic tissues with blasts. The diagnosis of congenital erythroleukemia was confirmed by the detection of glycophorin A, a major erythrocyte membrane protein, on the surface of the blasts. The clinical presentation and course of the case described here have not previously been reported for this extremely rare condition.
我们报告了一例新生儿病例,该患儿出现缺氧缺血性脑病、持续性低血糖和低血压、顽固性代谢性酸中毒、肾衰竭及凝血病,但尸检发现其非造血组织有大量原始细胞浸润。通过检测原始细胞表面的主要红细胞膜蛋白血型糖蛋白A,确诊为先天性红白血病。本文所描述病例的临床表现及病程,此前在这种极为罕见的疾病中尚未见报道。