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伴有持续性血小板减少症的亨特综合征。

Hunter syndrome with persistent thrombocytopenia.

作者信息

Panigrahi Inusha, Dhanorkar Manoj, Didel Siyaram, Koganti Raja Ashok

机构信息

Department of Pediatrics, APC, PGIMER, Chandigarh, India.

出版信息

BMJ Case Rep. 2019 Apr 20;12(4):e226518. doi: 10.1136/bcr-2018-226518.

Abstract

A case of Hunter syndrome, 6½-year-old boy presented with persistent thrombocytopenia and bleeding diathesis. However, cytopenia is not a usual presentation in patients with mucopolysaccharidosis II. After ruling out other causes of severe thrombocytopenia, a clinical possibility of chronic Epstein-Barr virus (EBV) infection was considered. He was treated with intravenous immunoglobulin for refractory thrombocytopenia and intracranial bleed. This was followed by oral prednisolone. The EBV serology was found positive. Platelet counts gradually recovered and no recurrence of bleeds was observed. EBV infection usually causes haematological abnormalities, mainly atypical lymphocytosis, which is a feature of infectious mononucleosis, and uncomplicated cases often present with mild decreases in platelet counts. Severe thrombocytopenia is an extremely rare complication of acute or chronic EBV infection. In Asians, EBV infection should be considered in children presenting with thrombocytopenia, bleeding diathesis and anaemia along with organomegaly.

摘要

一名6岁半患亨特综合征的男孩出现持续性血小板减少和出血倾向。然而,血细胞减少在黏多糖贮积症II型患者中并非常见表现。在排除严重血小板减少的其他病因后,考虑慢性爱泼斯坦-巴尔病毒(EBV)感染的临床可能性。他因难治性血小板减少和颅内出血接受静脉注射免疫球蛋白治疗,随后口服泼尼松龙。EBV血清学检查呈阳性。血小板计数逐渐恢复,未观察到出血复发。EBV感染通常会导致血液学异常,主要是非典型淋巴细胞增多,这是传染性单核细胞增多症的一个特征,且无并发症的病例常表现为血小板计数轻度下降。严重血小板减少是急性或慢性EBV感染极其罕见的并发症。在亚洲人中,对于出现血小板减少、出血倾向、贫血以及器官肿大的儿童,应考虑EBV感染。

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