May-Hegglin异常:罕见的遗传性自身免疫性血小板减少症

Vinaya A. Singh, M. Khan, S. Malik, Poonam Wade, V. Kulkarni
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引用次数: 0

摘要

新生儿血小板减少症是新生儿重症监护病房常见的疾病。由于可能的临床诊断范围广泛,诊断往往变得具有挑战性。仔细的评估和病史记录是正确诊断的基础。在这种诊断困境中,像外周涂片检查这样的基本调查可以起到拯救作用。在此,我们报告一例罕见的新生儿自身免疫性血小板减少症。在详细病史、仔细检查和基础调查的基础上,诊断为May-Hegglin异常,并经遗传学研究证实(肌球蛋白重链9基因罕见突变)。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
May–Hegglin anomaly: A rare hereditary autoimmune thrombocytopenia
Neonatal thrombocytopenia is a common entity encountered in neonatal intensive care unit. Diagnosis often becomes challenging because of broad range of possible clinical diagnoses. Careful evaluation and history taking are the backbone of sound diagnosis. During such diagnostic dilemma, investigation as basic as peripheral smear examination can come to a rescue. Here, we present a rare case of neonatal autoimmune thrombocytopenia. On the basis of detailed history, careful examination, and basic investigations, diagnosis of May–Hegglin anomaly was made which was later confirmed by genetic studies (rare mutation in myosin heavy chain 9 gene).
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