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Wernickes encephalopathy (WE) is a life-threatening neurologic disorder resulting from thiamine (vitamin B1) deficiency that can be secondary to chronic alcohol abuse, gastrointestinal surgery, systemic infectious and non-infectious diseases, and chemotherapy. WE is classically characterized on MRI by reduced diffusion and T2 prolongation along the mammillothalamic tracts, periaqueductal gray and tectal plate. We present two patients with acute WE who had baseline arterial spin labeling (ASL) perfusion at the time of presentation, demonstrating increase in cerebral blood flow (CBF) within the classically involved brain regions and concurrent global cerebral cortical hypoperfusion. Both patients were successfully treated with intravenous thiamine infusion. Post-treatment MRI demonstrated improvement of reduced diffusion and normalization of CBF within the involved structures. Prior histopathological studies have documented prominent undulation and luminal dilatation of arteries and arterioles in acute WE lesions, likely explaining the increased perfusion shown by imaging. The root of this pathophysiologic process may trace back to thiamines biochemical role in maintaining osmotic gradients and glucose metabolism, that if failed can lead to arterial hyper-perfusion. Our findings show that ASL-CBF can highlight the underlying pathophysiology in patients with acute WE by demonstrating increased CBF in involved central structures. This luxury perfusion may be a compensatory or protective mechanism by which increased metabolic demand is met in the acute setting and which, if treated timely, will show normalization of CBF on ASL imaging.

De novo, heterozygous, loss-of-function variants were identified in Pou domain, class 4, transcription factor 1 (POU4F1) via whole-exome sequencing in four independent probands presenting with ataxia, intention tremor, and hypotonia. POU4F1 is expressed in the developing nervous system, and mice homozygous for null alleles of Pou4f1 exhibit uncoordinated movements with newborns being unable to successfully right themselves to feed. Head magnetic resonance imaging of the four probands was reviewed and multiple abnormalities were noted, including significant cerebellar vermian atrophy and hypertrophic olivary degeneration in one proband. Transcriptional activation of the POU4F1 p.Gln306Arg protein was noted to be decreased when compared with wild type. These findings suggest that heterozygous, loss-of-function variants in POU4F1 are causative of a novel ataxia syndrome.

To purchase or authenticate to the full-text of this article, please visit this link: http://dx.doi.org/10.1111/j.1552-6569.2007.00231.x Byline: T. Thomas Zacharia (1), Meng Law (1), Thomas P. Naidich (1), Norman E. Leeds (1) Keywords: Central nervous system lymphoma; advanced imaging; diffusion-weighted imaging; MR spectroscopy Abstract: ABSTRACT PURPOSE The characterization and differentiation of central nervous system (CNS) lymphoma has important diagnostic, therapeutic, and prognostic significance. The purpose of this study is to characterize the diffusion-weighted imaging (DWI) and MR spectroscopic (MRS) findings in CNS lymphoma. MATERIALS AND METHODS Twenty consecutive patients (male [n= 12], female [n= 8]) with histopathologically proven CNS lymphoma were retrospectively evaluated during this study from July 2005 to April 2007. Patients included immunocompromised (n= 9) and immunocompetent (n= 11) individuals. MR Imaging (pretreatment n= 13), pre- and post-treatment (n= 7) included DWI (n= 20) (b = 1000s/mm2) and ADC (apparent diffusion coefficient) maps of all patients. MRS was performed (n= 10) with PRESS (point-resolved spectroscopy) sequence (multivoxel n= 8, single voxel n= 2) with a TE of 144 msec. All patients were histopathologically confirmed to have lymphoma by biopsy. RESULTS Areas of restricted diffusion were observed in 90 % (n= 18/20) on pretreatment scans. The diffusion restriction was variable on post-treatment scans. Median metabolite ratios in 10 patients were Cho/Cr- 2.12, NAA/Cho - .49, and NAA/Cr - 1.64. Presence of lactate or lipid was noted in 90 % (n= 9/10). Sites of lesion location were subcortical white matter (n= 6), basal ganglia (n= 4), corpus callosum (n= 3), extra-axial space including cavernous sinus (n= 5), cerebellum (n= 1), and lateral ventricle (n= 1). CONCLUSION Restricted diffusion is a consistent imaging finding in CNS lymphoma in immunocompetent patients. Spectroscopy is helpful in initial imaging diagnosis and post-treatment surveillance. These lesions are usually paraventricular in location. MR imaging appearances differ among immunocompetent and immunosuppressed individuals in most cases. Author Affiliation: (1)From the Neuroradiology, Mount Sinai Medical Center, New York, NY. Article History: Acceptance: Received November 4, 2007, and in revised form November 4, 2007. Accepted for publication November 30, 2007. Article note: Correspondence: Address correspondence to T. Thomas Zacharia MD, 210 Town House, Hershey, PA 17033. E-mail: ttz100@yahoo.com.