Cerebral Blood Flow and Marrow Diffusion Alterations in Children with Sickle Cell Anemia after Bone Marrow Transplantation and Transfusion.

BACKGROUND AND PURPOSE: Hematopoietic marrow hyperplasia and hyperperfusion are compensatory mechanisms in sickle cell anemia. We have observed marrow diffusion and arterial spin-labeling perfusion changes in sickle cell anemia following bone marrow transplantation. We aimed to compare arterial spin-labeling perfusion and marrow diffusion/ADC values in patients with sickle cell anemia before and after bone marrow transplantation or transfusion. MATERIALS AND METHODS: We reviewed brain MRIs from patients with sickle cell anemia obtained during 6 consecutive years at a children's hospital. Quantitative marrow diffusion values were procured from the occipital and sphenoid bones. Pseudocontinuous arterial spin-labeling perfusion values (milliliters/100 g of tissue/min) of MCA, anterior cerebral artery, and posterior cerebral artery territories were determined. Territorial CBF, whole-brain average CBF, and marrow ADC values were compared for changes before and after either bone marrow transplantation or transfusion. Bone marrow transplantation and transfusion groups were compared. Two-tailed paired and unpaired Student t tests were used; P < .05 was considered significant. RESULTS: Fifty-three examinations from 17 patients with bone marrow transplantation and 29 examinations from 9 patients with transfusion were included. ADC values significantly increased in the sphenoid and occipital marrow following bone marrow transplantation in contrast to patients with transfusion (P > .83). Whole-brain mean CBF significantly decreased following bone marrow transplantation (77.39 ± 13.78 to 60.39 ± 13.62 ml/100 g tissue/min; P < .001), without significant change thereafter. CBF did not significantly change following the first (81.11 ± 12.23 to 80.25 ± 8.27 ml/100 g tissue/min; P = .47) or subsequent transfusions. There was no significant difference in mean CBF between groups before intervention (P = .22). CONCLUSIONS: Improved CBF and marrow diffusion eventuate following bone marrow transplantation in children with sickle cell anemia in contrast to transfusion therapy.

Isolated absence of the optic chiasm: a rare cause of congenital nystagmus.

The cases presented are rare examples of congenital nystagmus associated with isolated absence of the optic chiasm. MR imaging in both patients demonstrated unremarkable anterior optic pathways and optic tracts. No additional midline central nervous system abnormalities, migrational anomalies, space-occupying lesions, or destructive processes were noted. These cases demonstrate that the achiasmatic syndrome should be included in the differential diagnosis of congenital nystagmus and may be overlooked without careful MR imaging evaluation.

Primary intracranial atypical teratoid/rhabdoid tumors of infancy and childhood: MRI features and patient outcomes.

BACKGROUND AND PURPOSE: Primary atypical teratoid/rhabdoid tumors (AT/RTs) are rare malignant intracranial neoplasms, usually occurring in young children. The objectives of this study were to characterize the MR imaging features and locations of primary intracranial AT/RTs, to determine the frequency of disseminated disease in the central nervous system (CNS) at diagnosis and postoperatively, and to assess patient outcomes. METHODS: The preoperative cranial MR images of 13 patients with AT/RTs were retrospectively reviewed for evaluation of lesion location, size, MR signal intensity and enhancement characteristics, and the presence of disseminated intracranial tumor. Postoperative MR images of the head and spine for 17 patients were reviewed for the presence of locally recurrent or residual tumor and disseminated neoplasm. Imaging data were correlated with patient outcomes. RESULTS: Patients ranged in age from 4 months to 15 years (median age, 2.9 years). Primary AT/RTs were intra-axial in 94% of patients. The single primary extra-axial lesion was located in the cerebellopontine angle cistern. AT/RTs were infratentorial in 47%, supratentorial in 41%, and both infra- and supratentorial in 12%. A germ-line mutation of the hSNF5/INI1 tumor-suppressor gene was responsible for the simultaneous occurrence of an intracranial AT/RT and a malignant renal rhabdoid tumor in a 4-month-old patient. Mean tumor sizes were 3.6 x 3.8 x 3.9 cm. On short TR images, AT/RTs typically had heterogeneous intermediate signal intensity, as well as zones of low (54%), high (8%), or both low and high (31%) signal intensity from cystic and/or necrotic regions, hemorrhage, or both, respectively. On long TR/long TE images, solid portions of AT/RTs typically had heterogeneous intermediate-to-slightly-high signal intensity with additional zones of high (54%) or both high and low signal intensity (38%), secondary to cystic and/or necrotic regions, edema, prior hemorrhage, and/or calcifications. AT/RT had isointense and/or slightly hyperintense signal intensity relative to gray matter on fluid-attenuated inversion-recovery (FLAIR) and long TR/long TE images, and showed restricted diffusion. All except 1 AT/RT showed contrast enhancement. The fraction of tumor volume showing enhancement was greater than two thirds in 58%, between one third and two thirds in 33%, and less than one third in 9%. Disseminated tumor in the leptomeninges was seen with MR imaging in 24% of patients at diagnosis/initial staging and occurred in another 35% from 4 months to 2.8 years (mean, 1.1 years) after surgery and earlier imaging examinations with negative findings. The overall 1-year and 5-year survival probabilities were 71% and 28%, respectively. Patients with MR imaging evidence of disseminated leptomeningeal tumor had a median survival rate of 16 months compared with 149 months for those without disseminated tumor (P < .004, logrank test). CONCLUSION: AT/RTs are typically intra-axial lesions, which can be infra- and/or supratentorial. The unenhanced and enhanced MR imaging features of AT/RT are often variable secondary to cystic/necrotic changes, hemorrhage, and/or calcifications. Poor prognosis is associated with MR imaging evidence of disseminated leptomeningeal tumor.