Chronic Myelogenous Leukemia Relapse Presenting With Central Nervous System Blast Crisis and Bilateral Optic Nerve Infiltration.

Bilateral, simultaneous optic nerve sheath infiltration as a manifestation of leukemia relapse is very rare. A 45-year-old woman with chronic myelogenous leukemia was successfully treated to cytogenetic bone marrow remission 1 year previously and maintained on imatinib. She developed total bilateral blindness with marked, bilateral optic disc edema and evidence of bilateral optic nerve infiltration on magnetic resonance imaging. Cerebrospinal fluid cytology confirmed central nervous system (CNS) blast crisis. She recovered visual acuity of 20/20 in the right eye, and 20/25 in the left eye with salvage systemic and intrathecal chemotherapy before radiation therapy. Our report underscores the importance of timely and aggressive intervention of blast crisis of the CNS and the need for CNS penetrating induction and maintenance therapy.

Clinical and laboratory features of congenital factor XIII deficiency.

OBJECTIVE: This is a retrospective analysis of the clinical and laboratory features of 17 cases of factor XIII deficiency that were followed in tertiary care hospitals in Riyadh, Kingdom of Saudi Arabia, over 20 years. Cases were referred to these hospitals from other health care centers in the country. METHODS: We performed a retrospective analysis of 17 cases of factor XIII deficiency comprising 11 males and 6 females, who were seen over a period of 20 years (1978-1998) in Riyadh, Kingdom of Saudi Arabia. Data variables including age, sex, origin, clinical presentation, bleeding time, prothrombin time, partial thromboplastin time, factor XIII screening and assay, hemoglobin, and platelet count were collected and analyzed. The diagnosis of factor XIII deficiency was made by urea clot lysis test alone in one patient and urea clot lysis test in combination with factor XIII quantitative assay in 16 patients. RESULTS: Eleven patients were males and 6 were females. Median age at the time of diagnosis was 9 years (3-29 years). Ten patients (59%) had a family history of excessive bleeding. Presenting symptoms included ecchymosis and recurrent hematomas in 12 patients (71%), bleeding after circumcision in 6 male patients (55%), umbilical stump bleeding in 7 (41%), poor wound healing and keloids in 3 patients (18%), and intracranial bleeding in 3 patients (18%). Other manifestations included cephalohematoma, abortion, abruptio placenta, and intraperitoneal bleeding (one patient each). Laboratory evaluation revealed a normal prothrombin time, partial thromboplastin time, bleeding time and platelet count in all patients. Factor XIII screening test was positive in all 17 patients tested and assay for factors XIII was <0.06 U/ml in 16 patients tested. CONCLUSION: Our data confirms that factor XIII deficiency is a rare bleeding disorder characterized by variable bleeding manifestations but consistent laboratory findings. The occurrence of keloid in our patient group may reflect the poor quality of the clotting, associated with loss of tensile strength of fibrin polymers, caused by factor XIII deficiency and leading to abnormally large scar formation.

Single center review of clinicopathological characterization in 77 patients with positive lupus anticoagulant antibodies.

BACKGROUND: The antiphospholipid syndrome (APS) is a thrombophillic disorder characterized by the presence of antiphospholipid antibodies (APA). It often occurs in patients with systemic lupus erythematosus (SLE) and may be associated with recurrent abortions and thrombocytopenia and, occasionally, catastrophic thrombotic events. OBJECTIVES: To examine, retrospectively, the clinico-pathological features of patients with APS detected by the presence of the lupus anticoagulant (LAC). METHODS: Patients were selected for study on the basis of a positive LAC test on review of the laboratory computer records of the King Faisal Specialist Hospital and Research Center. Following this, a clinical chart review was conducted in order to determine the clinical presentations, treatment and the course of patients identified. The information obtained was entered into an electronic database and subsequently analyzed. RESULTS: Seventy-seven patients were identified and reviewed. Fifty-six (73%) were female and 16 (21%) were children less than 15-years-old. Thirty-two patients (42%) had no clinical events (incidental APS). The syndrome was classified as primary in 40 (52%) patients and secondary in 37 (48%). Out of the 45 (58%) patients who presented with symptoms related to APA 22 (49%) had thrombosis, 24 (53%) had pregnancy failure, and 4 (9%) presented with catastrophic APS. The activated partial thromboplastin time (aPTT) was elevated and not corrected by mixing with normal plasma in 47 (61%). On the other hand, the prothrombin time (PT) was normal in 66 (90%). There is a significant difference between aPTT and PT as a screening test with P value of < 0.0001. Tests for anticardiolipin antibodies (ACA) were positive in 39 patients (70%). Only 13 (17%) patients had thrombocytopenia. All patients who presented with thrombosis were treated with warfarin but only 5 (23%) had received aspirin. Out of the 22 patients presenting with thrombosis, 12 (55%) had one or more recurrent thrombotic events while only 6 (25%) out of the 24 patients who presented with pregnancy failure had events other than pregnancy failure. Fifty-two patients were followed up regularly and were alive. CONCLUSIONS: We find that thrombosis, venous or arterial, and obstetric complications are the most frequent clinical findings in our patients with circulating LAC. Incidental APS is not an uncommon finding in patients screened for APS. There is a clear association between the presence of LAC and an abnormal aPTT, which is much less obvious with the PT.