中性粒细胞减少、平均红细胞体积（MCV）增加并伴有异常神经系统表现：一例钴胺素D缺乏病例
Neutropenia and Increased Mean Corpuscular Volume (MCV) With Abnormal Neurologic Findings: A Case of Cobalamin D Deficiency.
作者信息
Soylu Ustkoyuncu Pembe, Kendirci Mustafa, Kardas Fatih, Gokay Songul, Per Huseyin, Kacar Bayram Ayse
机构信息
Department of Pediatrics, Division of Pediatric Nutrition and Metabolism.
Division of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
出版信息
J Pediatr Hematol Oncol. 2019 Jan;41(1):e54-e56. doi: 10.1097/MPH.0000000000001120.
BACKGROUND
Disorders of intracellular cobalamin (Cbl) metabolism are classified from A to J according to biochemical phenotype, and genetic and complementation analyses. CblD-deficient patients present with developmental, hematologic, neurologic, and metabolic findings.
CLINICAL OBSERVATION
An 11-year-old boy presented with neutropenia, increased mean corpuscular volume, psychomotor retardation, and seizures. His plasma total homocysteine and urinary methylmalonic acid levels were elevated, and a homozygous nonsense mutation [p. R250X (c.748C>T] leading to premature termination of translation was identified in the MMADHC gene, which was compatible with CblD defect.
CONCLUSION
In the presence of increased mean corpuscular volume and other hematologic manifestations, such as leukopenia, thrombocytopenia, and megaloblastic anemia, with severe nonspecific or mild neurologic symptoms, Cbl synthesis defects should be considered.
背景
细胞内钴胺素（Cbl）代谢紊乱根据生化表型、基因和互补分析从A到J进行分类。CblD缺陷患者表现出发育、血液学、神经学和代谢方面的症状。
临床观察
一名11岁男孩出现中性粒细胞减少、平均红细胞体积增加、精神运动发育迟缓及癫痫发作。其血浆总同型半胱氨酸和尿甲基丙二酸水平升高，在MMADHC基因中鉴定出一个导致翻译提前终止的纯合无义突变[p.R250X（c.748C>T）]，这与CblD缺陷相符。
结论
当出现平均红细胞体积增加及其他血液学表现，如白细胞减少、血小板减少和巨幼细胞贫血，并伴有严重非特异性或轻度神经学症状时，应考虑Cbl合成缺陷。
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