-Case Reports-

Cerebral Infarction in a Patient with Macrothrombocytopenia with Leukocyte Inclusions (MTCP, May-Hegglin Anomaly/Sebastian Syndrome)

Yutaka Nishiyama¹, Junko Akaishi², Toshiya Katsumata¹, Ken-ichiro Katsura¹ and Yasuo Katayama¹

¹Department of Neurological, Nephrological and Rheumatological Science, Graduate School of Medicine, Nippon Medical School
²Department of Biological Regulation and Regenerative Surgery, Graduate School of Medicine, Nippon Medical School

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 patient's 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.

J Nippon Med Sch 2008; 75: 228-232

Keywords
cerebral infarction, macrothrombocytopeia, May-Hegglin anomaly

Correspondence to
Yutaka Nishiyama, Department of Internal Medicine (Division of Neurology, Nephrology, and Rheumatology), Nippon Medical School, 1-1-5 Sendagi Bunkyo-ku, Tokyo 113-8603, Japan
yutakanms@yahoo.co.jp

Received, March 10, 2008
Accepted, April 18, 2008