Kind Terry, Levy Joseph, Lee Margaret, Kaicker Shipra, Nicholson John F, Kane Steven A
Pediatric Emergency Department, Babies and Children's Hospital of New York, Columbia University, College of Physicians and Surgeons, New York, New York, USA.
J Pediatr Hematol Oncol. 2002 May;24(4):327-9. doi: 10.1097/00043426-200205000-00023.
Anew case of cobalamin C disease associated with hemolytic-uremic syndrome (HUS) in the neonatal period is described. A 28-day-old boy presented with failure to thrive, hypotonia, pancytopenia, and features of HUS (microangiopathic hemolytic anemia, thrombocytopenia, and renal failure). The possibility of the diagnosis of an underlying vitamin B12 disorder was prompted by evidence of megaloblastic changes on the peripheral smear and by finding in the literature a suggested association of neonatal HUS with this cobalamin-related metabolic disorder. Amino acid analysis showed elevated homocysteine levels in the plasma and increased levels of both homocysteine and methyl malonic acid in the urine. Diagnosis of cobalamin C disease was confirmed by complementation studies using skin fibroblasts. Therapy included parenteral hydroxocobalamin, carnitine, and leucovorin calcium (folinic acid). Cobalamin C disease should be considered in the diagnosis of patients presenting with HUS in infancy who have unexplained megaloblastosis, pancytopenia, neurologic impairment, and failure to thrive. Early diagnosis and institution of therapy may be effective in improving survival and quality of life.
本文描述了一例新生儿期与溶血尿毒综合征（HUS）相关的钴胺素C病。一名28日龄男婴出现生长发育迟缓、肌张力低下、全血细胞减少以及HUS的特征（微血管病性溶血性贫血、血小板减少和肾衰竭）。外周血涂片出现巨幼细胞改变的证据以及文献中提示新生儿HUS与这种钴胺素相关代谢紊乱有关，促使考虑潜在维生素B12紊乱的诊断。氨基酸分析显示血浆中同型半胱氨酸水平升高，尿液中同型半胱氨酸和甲基丙二酸水平均升高。通过使用皮肤成纤维细胞的互补研究确诊为钴胺素C病。治疗包括胃肠外给予羟钴胺、肉碱和亚叶酸钙（甲酰四氢叶酸）。对于婴儿期出现HUS且伴有无法解释的巨幼细胞贫血、全血细胞减少、神经功能损害和生长发育迟缓的患者，诊断时应考虑钴胺素C病。早期诊断和开始治疗可能对提高生存率和生活质量有效。
