Balderramo D C, Ricchi B N, Marun S G, Scaliter G, Alonso M
Hospital Privado Centro Medico de Cordoba, Naciones Unidas 346, Barrio Parque Velez Sarsfield, RA 5016, Cordoba, Argentina.
Haematologica. 2003 May;88(5):ECR17.
The Sebastian syndrome (SS) is a MYH9-related disorders, which are an extremely infrequent group of four autosomal dominant illnesses. SS consist of giant platelets, leukocyte inclusions and thrombocytopenia. To our knowledge, there are no case reports of this syndrome in South America. The propositus was a 35-year-old Argentine woman with a history of purpuric lesions in her lower limbs and thrombocytopenia. Idiopathic thrombocytopenia purpura (ITP) was previously diagnosed, but she did not respond to treatment with steroids. Family history failed to provide any evidence of hearing loss, easy bruising, nephritis, renal failure or cataracts. The patient and 11 members of her family were evaluated. The diagnosis of SS was established by demonstrating giant platelets, thrombocytopenia and leukocyte inclusions in peripheral smear in two relatives and by peripheral smear and electronic microscopy in the propositus. MYH9-related disorders should be suspected whenever a patient has a low platelet count or a bleeding diathesis of unknown origin. In these cases, the history, carefully peripheral smear exam, immunocytochemistry and electronic microscopy will be of great help. Differentiation ITP with SS is important to avoid unnecessary diagnostic studies and treatments.
塞巴斯蒂安综合征（SS）是一种与MYH9相关的疾病，这是一组极为罕见的常染色体显性疾病，共四种。SS的症状包括巨大血小板、白细胞包涵体和血小板减少症。据我们所知，南美洲尚无该综合征的病例报告。患者为一名35岁的阿根廷女性，有下肢紫癜性病变和血小板减少症病史。此前被诊断为特发性血小板减少性紫癜（ITP），但她对类固醇治疗无反应。家族史未提供任何听力丧失、易瘀伤、肾炎、肾衰竭或白内障的证据。对该患者及其11名家庭成员进行了评估。通过在两名亲属的外周血涂片以及先证者的外周血涂片和电子显微镜检查中发现巨大血小板、血小板减少症和白细胞包涵体，确诊为SS。每当患者血小板计数低或有不明原因的出血倾向时，应怀疑患有与MYH9相关的疾病。在这些情况下，病史、仔细的外周血涂片检查、免疫细胞化学和电子显微镜检查将有很大帮助。区分ITP和SS对于避免不必要的诊断研究和治疗很重要。
