Jain Puneet, Yoganathan Sangeetha, Sharma Suvasini, Motwani Jayashree, Kumar Atin, Kabra Madhulika, Gulati Sheffali
Department of Pediatrics, Division of Pediatric Neurology, All India Institute of Medical Sciences, New Delhi, India.
J Child Neurol. 2012 Oct;27(10):1331-5. doi: 10.1177/0883073811433846. Epub 2012 Feb 28.
A 3-year-old girl who presented with anemia, thrombocytopenia, and recurrent strokes is described. The cerebral angiography revealed moyamoya vasculopathy. Her younger brother also had anemia and thrombocytopenia but no neurologic abnormalities. Both children had severe deficiency of ADAMTS13 (A Disintegrin And Metalloprotease with Thrombospondin like domain activity) confirming the diagnosis of congenital thrombotic thrombocytopenic purpura. The children responded well to regular fresh-frozen plasma infusions. This report expands the spectrum of hematologic diseases associated with moyamoya syndrome. Unexplained thrombocytopenia, especially in the presence of neurologic symptoms, should prompt an evaluation for ADAMTS13deficiency. The diagnosis has significant implications not only for therapy but also for genetic counseling.
本文描述了一名患有贫血、血小板减少症和复发性中风的3岁女孩。脑血管造影显示烟雾病血管病变。她的弟弟也有贫血和血小板减少症，但无神经学异常。两个孩子均有严重的ADAMTS13（含血小板反应蛋白基序的解整合素样金属蛋白酶13）缺乏，确诊为先天性血栓性血小板减少性紫癜。孩子们对定期输注新鲜冰冻血浆反应良好。本报告扩展了与烟雾综合征相关的血液系统疾病谱。不明原因的血小板减少，尤其是伴有神经学症状时，应促使对ADAMTS13缺乏进行评估。该诊断不仅对治疗有重要意义，对遗传咨询也有重要意义。
