一例血小板大小正常的Wiskott-Aldrich综合征罕见病例：病例报告
A rare case of Wiskott-Aldrich Syndrome with normal platelet size: a case report.
摘要(中文译文)
Wiskott-Aldrich综合征是一种罕见的X连锁疾病，以微血小板减少症、湿疹和反复感染为特征。它由WAS基因突变引起。微血小板减少症一直被视为诊断这一罕见疾病的关键标准。然而，在本病例报告中，我们描述了一例血小板大小正常的Wiskott-Aldrich综合征。我们报告一名9个月大的马来男婴，自出生起即表现为持续性血小板减少症。出生时的系列血液检查显示其血小板大小正常。其家族史显示，母系叔伯中有两例新生儿早期死亡。自发性出血仅见于3个月大时。他最初按免疫性血小板减少性紫癜接受治疗，并开始静脉注射免疫球蛋白。其临床状况恶化和对免疫球蛋白反应不佳，引起了对其他潜在病理的怀疑。WAS基因的分子分析显示第10外显子存在错义突变。其父母拒绝进一步干预，并在随后的随访预约中失访。对于任何表现为早发性血小板减少症的男婴，即使不存在血小板体积小这一Wiskott-Aldrich综合征的特征性表现，也应考虑Wiskott-Aldrich综合征的诊断。
Abstract
Wiskott-Aldrich syndrome is a rare X-linked disorder characterized by microthrombocytopenia, eczema, and recurrent infections. It is caused by mutations of the WAS gene. Microthrombocytopenia has been regarded as the key criteria in diagnosing this rare condition. However, in this case report, we describe a case of Wiskott-Aldrich syndrome with normal platelet size. We report the case of a 9-month-old Malay boy who presented with persistent thrombocytopenia from birth. Serial blood investigations at birth showed he had normal platelet size. His family history revealed two early neonatal deaths in maternal uncles. Spontaneous bleeding was only seen at the age of 3 months. He was initially treated for immune thrombocytopenic purpura and was started on intravenously administered immunoglobulin. His clinical deterioration and poor response to the immunoglobulin raised suspicion for a different underlying pathology. Molecular analysis of the WAS gene revealed a missense mutation in exon 10. His parents refused further interventions and defaulted on subsequent follow-up appointments. A diagnosis of Wiskott-Aldrich syndrome should be considered in any male infant who presents with early onset thrombocytopenia despite an absence of small platelet size, a characteristic feature of Wiskott-Aldrich syndrome.
如何引用
AMA
Mohd Farid Baharin, Jasbir Singh Dhaliwal, Smrdhi V V Sarachandran, Siti Zaharah Idris, Seoh Leng Yeoh. A rare case of Wiskott-Aldrich Syndrome with normal platelet size: a case report.. Journal of medical case reports. 2016; doi:10.1186/s13256-016-0944-1.
APA
Mohd Farid Baharin, Jasbir Singh Dhaliwal, Smrdhi V V Sarachandran, Siti Zaharah Idris, Seoh Leng Yeoh (2016). A rare case of Wiskott-Aldrich Syndrome with normal platelet size: a case report.. Journal of medical case reports. https://doi.org/10.1186/s13256-016-0944-1
GB/T 7714
Mohd Farid Baharin, Jasbir Singh Dhaliwal, Smrdhi V V Sarachandran, Siti Zaharah Idris, Seoh Leng Yeoh. A rare case of Wiskott-Aldrich Syndrome with normal platelet size: a case report.[J]. Journal of medical case reports, 2016 doi:10.1186/s13256-016-0944-1.
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