Abstract
Background: Cerebral venous thrombosis (CVT) is an important cause of stroke in young adults caused by complete or partial occlusion of the cerebral major venous sinuses or smaller feeding cortical veins. Myelodysplastic syndrome (MDS) represents a heterogeneous group of myeloid neoplasms that are characterized by ineffective hematopoiesis, variable cytopenias, and a risk of progression to acute myeloid leukemia. However, CVT is rarely reported in patients with MDS.
Case presentation: A 45-year-old woman with recurrent chronic headache for three months. Later, the headache symptoms gradually worsened, accompanied by disturbance of consciousness and cerebral hemorrhage. Multiple thromboses of the intracranial venous sinus were confirmed by cranial magnetic resonance venography (MRV). After treatment with heparin anticoagulation and mannitol dehydration, the symptoms gradually improved, and the hematoma was absorbed before discharge. Bone marrow biopsy revealed morbid hematopoiesis in the erythroid system and 10% of the circular iron granulocyte erythrocytes. Whole-exon detection revealed U2AF1 c.101C>T, CEBPA c.283G>A, and KMT2D c.468T>G gene mutations, which confirmed the diagnosis of MDS.
Conclusions: MDS complicated with venous sinus thrombosis is rare. A highindex of suspicion is needed for a correct diagnosis of CVT presenting with ICH or chronic headache in female patients.