May-Hegglin Anomaly and the Devastating Consequences of Acute Cerebral Hemispheric Infarction

Case Report

Ann Hematol Oncol. 2016; 3(1): 1070.

May-Hegglin Anomaly and the Devastating Consequences of Acute Cerebral Hemispheric Infarction

Zuberi AZ¹*, Ahmed BN¹, Iqbal S¹ and Page S²

¹Department of Internal Medicine, University of Kansas School of Medicine–Wichita, USA

²Department of Hematology, Cancer Center of Kansas, USA

*Corresponding author: Zuberi AZ, Department of Internal Medicine, University of Kansas School of Medicine–Wichita, 1010 North Kansas, Wichita, KS 67214, USA

Received: December 30, 2015; Accepted: March 08, 2016; Published: March 10, 2016


May-hegglin anomaly (MHA) is a rare genetic disorder characterized by thrombocytopenia, giant platelets, and leukocyte inclusion bodies. Bleeding diatheses are known to occur in patients with the condition; however, episodes of thrombotic events have been rare. We present a case of acute cerebral infarction of the left hemisphere in a 29-year-old patient with the May-Hegglin anomaly, ultimately resulting in herniation and brain death. To our knowledge, this is only the second case of an acute ischemic stroke in a patient with MHA, and the first case to occur in a young person.

Keywords: Macrothrombocytopenia; May-Hegglin anomaly; MYH9; Cerebral infarction


Giant platelets, thrombocytopenia, and Döhle-like body neutrophil inclusions characterize the May-hegglin anomaly (MHA) [1]. MHA is inherited in an autosomal dominant fashion [1] and caused by a mutation in the MYH9 gene responsible for encoding the non-muscle myosin heavy chain A [2]. Bleeding diatheses can range from negligible to severe hemorrhage and are treated with platelet transfusion if necessary [1]. Bleeding episodes can correlate with the degree of thrombocytopenia, however, thrombotic episodes have been rare in MHA and only described in case reports. We present the second known case report of acute cerebral ischemia in a patient with the May-Hegglin anomaly, which resulted in a devastating hemispheric stroke and eventually death.

Typically, thrombocytopenia is considered to place patients at lower risk of arterial thrombosis [1,3]. Our case demonstrates a unique presentation of a thrombotic event in a young patient with extreme thrombocytopenia. While thrombotic events can occur in cases of thrombocytopenia, they usually occur in cases of profound systemic illness or medication side effect. A review of the limited literature on the May-Hegglin anomaly suggests that normal platelet aggregation mechanisms can be present despite low platelet counts, indicating that this condition may behave differently than other thrombocytopenias.

Case Presentation

A 29 year-old female presented to the emergency department with acute onset of right upper extremity muscle weakness, paresthesia, and aphasia of five-hour duration, suggestive of an acute left-sided cerebrovascular accident. Her past medical history was significant for the May-Hegglin anomaly, monitored by a local hematologist. The patient had a medical history of hypertension, tobacco abuse, hearing loss, and advanced chronic kidney disease of an unknown etiology. Initial computed tomography (CT) of the brain revealed no evidence of intracerebral hemorrhage. Magnetic resonance imaging (MRI) of the brain demonstrated an acute ischemic stroke involving the left frontal and parietal lobes (Figure 1). The patient was admitted to the neurocritical care unit for intensive stroke monitoring and therapies. Due to her low platelet count (2,000 cells/microL), she did not receive antiplatelet or anticoagulant therapy. Echocardiogram with bubble study was negative for intracardiac shunt, thrombus, or valvular vegetations; continuous telemetry revealed no cardiac arrhythmias. Carotid investigation was negative for hemodynamically significant stenosis. A battery of blood tests to search for hypercoagulable states, including Protein C, Protein S, Antithrombin III, Prothrombin gene mutation, Factor V Leiden mutation, and the lupus anticoagulant were unremarkable. The patient was observed in the neurocritical care unit for several days with mild neurologic improvement and then transferred to the general medical ward, where she became acutely obtunded and unresponsive within the next 24 hours. An emergent head CT and brain MRI demonstrated a large acute ischemic stroke involving the entire left cerebral hemisphere with left to right midline shift and effacement of basilar cisterns (Figure 2). Her condition deteriorated; she demonstrated decorticate and decerebrate posturing, absent pupillary reflex, and autonomic dysfunction. A repeat head CT confirmed uncal herniation. Finally, a four-vessel cerebral angiogram demonstrated no intracranial blood flow supporting the clinical picture of brain death. The patient was provided comfort care and subsequently expired.

Citation: Zuberi AZ, Ahmed BN, Iqbal S and Page S. May-Hegglin Anomaly and the Devastating Consequences of Acute Cerebral Hemispheric Infarction. Ann Hematol Oncol. 2016; 3(1): 1070. ISSN : 2375-7965