title: Cerebral infarction in a patient with macrothrombocytopenia with leukocyte inclusions (MTCP, May-Hegglin anomaly/Sebastian syndrome).
abstract: We report on a 78-year-old woman patient with macrothrombocytopenia with leukocyte inclusions (MTCP, May-Hegglin anomaly/Sebastian syndrome), who had no history of hemorrhagic symptoms and had a platelet count of 10,000 or less, but had a cerebral infarction. The patient was found to have idiopathic thrombocytopenic purpura, hypertension, and atrial fibrillation 16 years ago, yet received no medication. She was found to have had a cerebral infarction with aphasia as the chief complaint and was admitted to our hospital. Thrombocytopenia was found in three family members. Blood examinations revealed normal bleeding time and platelet aggregation ability. The patient was found to have the triad of giant platelets, thrombocytopenia, and inclusion bodies in leukocytes. Genetic analysis showed a mutation of the MYH-9 gene in the patients second daughter. Consequently, this patient received a diagnosis of MTCP. There have only been a few reports of the onset of thrombosis in patients with MTCP and no reports of the onset of cerebral infarction. Our report is the first case of MTCP in a patient with cerebral infarction.
authors.affiliation: Department of Neurological, Nephrological and Rheumatological Science, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan. yutakanms@yahoo.co.jp
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Nishiyama
authors.forename: Junko
authors.initials: J
authors.lastname: Akaishi
authors.forename: Toshiya
authors.initials: T
authors.lastname: Katsumata
authors.forename: Ken-ichiro
authors.initials: K
authors.lastname: Katsura
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Katayama
mesh_terms: D000368:Aged; D001792:Blood Platelets / Q000473:pathology; D002544:Cerebral Infarction / Q000209:etiology*; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology*; D007962:Leukocytes / Q000473:pathology*; D020409:Molecular Motor Proteins / Q000235:genetics; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics; D013577:Syndrome; D013921:Thrombocytopenia / Q000150:complications* / Q000175:diagnosis*
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains