A rare syndrome that can easily be missed: May-Hegglin anomaly.
نویسندگان
چکیده
May-Hegglin is a rare disease characterized by macrothrombocytopenia and presence of Döhle-like bodies in white cells. We present a patient treated with acute myeloid leukemia had pale-blue colored inclusion bodies assuming Döhle in his neutrophils.
منابع مشابه
A rare familial thrombocytopenia: May-Hegglin anomaly report of two cases and review of the literature.
May-Hegglin anomaly is a hereditary thrombocytopenia associated with giant platelets and large basophilic, cytoplasmic inclusion bodies (resembling Döhle bodies) in the granulocytes. Patients may experience easy bruising, recurrent epistaxis, gingival bleeding, menorrhagia and sometimes excessive bleeding associated with surgical procedures. Failure to appropriately diagnose May-Hegglin anomaly...
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T HE MAY-HEGCLIN ANOMALY is a rare hereditary condition characterized by giant platelets and D#{246}hle inclusion bodies in the granulocytes. May first described the anomaly in 1909,’ and in 1945 Hegglin described the condition in a man and his two sons.2 Subsequent reports have confirmed the familial nature with an autosomal dominant mode of inheritance.3 3 Although most persons with the May-H...
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MYH9-related disorders, previously distinguished in four syndromes (Epstein syndrome, Fechter syndrome, Sebastian syndrome, May-Hegglin anomaly) based on the combination of different clinical findings at the time of diagnosis; appear to be only one rare nosological entity (MYH9RD). It has been recognized that they are all phenotypic variants due to mutation in MYH9 gene (heterozygous pathogenic...
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ورودعنوان ژورنال:
- Turkish journal of haematology : official journal of Turkish Society of Haematology
دوره 22 2 شماره
صفحات -
تاریخ انتشار 2005