以噬血细胞性淋巴组织细胞增生症为表现的钴胺素C病
Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis.
作者信息
Wu Susan, Gonzalez-Gomez Ignacio, Coates Thomas, Yano Shoji
机构信息
Division of Medical Genetics, Department of Pediatrics, Children's Hospital Los Angeles #90 and University of Southern California, 4650 Sunset Boulevard, Los Angeles, CA 90027, USA.
出版信息
Pediatr Hematol Oncol. 2005 Dec;22(8):717-21. doi: 10.1080/08880010500278871.
Cobalamin C disease is a rare genetic condition resulting in methylmalonic aciduria, homocystinuria, and hematologic abnormalities. Clinical characteristics include ophthalmologic findings and neurological abnormalities, such as microcephaly, seizure, and mental retardation. The authors report on a 4-month-old patient initially diagnosed with hemophagocytic lymphohistiocytosis (HLH), who was later diagnosed with cobalamin C disease.
钴胺素C病是一种罕见的遗传性疾病，可导致甲基丙二酸尿症、高胱氨酸尿症和血液学异常。临床特征包括眼科检查结果和神经系统异常，如小头畸形、癫痫和智力迟钝。作者报告了一名最初被诊断为噬血细胞性淋巴组织细胞增生症（HLH）的4个月大患者，该患者后来被诊断为钴胺素C病。
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