寻找颜色：灰色血小板——一种罕见的出血性疾病。
Look for the Colour: Gray Platelets - A Rare Bleeding Disorder.
作者信息
Gujula Yutika Jaishankar, Bhurat Rishab, Shanmugam Sri Gayathri, Tamilselvam Aishwarya, Jayaraman Dhaarani, Scott Julius Xavier
机构信息
Department of Pediatrics, Sri Ramachandra Institute of Higher Education and Research, Chennai, India.
Department of Pediatric Hematology& Oncology, Sri Ramachandra Institute of Higher Education and Research, Chennai, India.
出版信息
EJIFCC. 2025 Jun 3;36(2):201-204. eCollection 2025 Jun.
BACKGROUND
Gray Platelet Syndrome (GPS) is a very rare bleeding disorder. It is characterised by mild to moderate bleeding with macro thrombocytopenia and impaired alpha granules in megakaryocytes and platelets.
CASE DETAILS
A 8-year-old boy, presented with ecchymotic patches all over the body since early childhood. On examination, he had ecchymotic patches over the thigh and back. There were no dysmorphic features, lymphadenopathy or hepatosplenomegaly. Hemogram showed borderline low platelet (1.1*10^9) and normal hemoglobin and leucocytes. Prothrombin and Partial thromboplastin time were normal. Peripheral smear showed large platelets that lacked granules and looked pale, prompting us to think of Gray Platelets Syndrome. Mean platelet volume was 12.8fL. Genetic sequencing revealed homozygous mutation in the exon35 of NBEAL2-(c.5597del) gene, confirming the gray platelet syndrome (GPS).
CONCLUSION
High index of suspicion and coordinated care between clinician and pathologists are important for timely diagnosis of such rare disorders.
背景
灰色血小板综合征（GPS）是一种非常罕见的出血性疾病。其特征为轻度至中度出血，伴有大血小板减少症，以及巨核细胞和血小板中的α颗粒受损。
病例详情
一名8岁男孩自幼全身出现瘀斑。检查时，其大腿和背部有瘀斑。无畸形特征、淋巴结病或肝脾肿大。血常规显示血小板临界低值（1.1×10^9），血红蛋白和白细胞正常。凝血酶原时间和部分凝血活酶时间正常。外周血涂片显示大血小板缺乏颗粒且颜色苍白，促使我们考虑灰色血小板综合征。平均血小板体积为12.8fL。基因测序显示NBEAL2基因外显子35存在纯合突变（c.5597del），确诊为灰色血小板综合征（GPS）。
结论
高度怀疑指数以及临床医生和病理学家之间的协同护理对于及时诊断此类罕见疾病很重要。
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