Long-Term Survival after Progressive Multifocal Leukoencephalopathy in a Patient with Primary Immune Deficiency and NFKB1 Mutation.

PURPOSE: To describe the development of progressive multifocal leukoencephalopathy (PML) in a patient with primary immune deficiency (PID) due to a NFKB1 (nuclear factor kB subunit 1) mutation, who was treated successfully with a combination of mirtazapine and mefloquine. METHODS: We've based the treatment of our patient on literature research and provide a review of PML in CVID patients. RESULTS: Only a few reports have been published on the occurrence of PML in PID. PML is mainly observed in patients with reduced cellular immunity, which was not the case in our patient. Successful treatment options in this population are limited. Though severely disabled, our patient still survives, more than 4 years after symptom onset and shows consistent improvement on MRI (magnetic resonance imaging) and CSF (cerebrospinal fluid) analysis. CONCLUSION: We conclude that some patients with PML might be treatable and can show long-term survival although neurological deficits remain. Involvement of humoral immunity in the pathogenesis of PML as well as the possible role of NFKB1 mutations in response to specific pathogens deserves further investigation.

C-terminal neurogranin is increased in cerebrospinal fluid but unchanged in plasma in Alzheimer's disease.

INTRODUCTION: Biomarkers monitoring synaptic degeneration/loss would be valuable for Alzheimer's disease (AD) diagnosis. Postsynaptic protein neurogranin may be a promising cerebrospinal fluid (CSF) biomarker but has not yet been evaluated as a plasma biomarker. METHODS: Using an in-house designed prototype enzyme-linked immunosorbent assay (ELISA) targeting neurogranin C-terminally, we studied neurogranin in paired CSF/plasma samples of controls (n = 29) versus patients experiencing MCI, or dementia, due to AD (in total n = 59). RESULTS: CSF neurogranin was increased in AD and positively correlated with CSF tau, whereas there was a negative relationship between CSF neurogranin (and tau) and CSF Aß1-42/Aß1-40. No differences were detected in plasma neurogranin between controls and AD. Also, there was no correlation between CSF and plasma neurogranin, excluding confounding effects of the latter. DISCUSSION: This study strengthens the potential of neurogranin as an AD CSF biomarker, which now needs validation in larger studies. As tools, straightforward immunoassays can be used, as demonstrated by the described ELISA.

Pituitary stalk hemangioblastoma: the fourth case report and review of the literature.

Supratentorial hemangioblastomas (HBL) have been rarely described in the literature. Herein we report the fourth case of pituitary stalk HBL diagnosed concurrently with cerebellar HBLs in a 51-year-old woman with von Hippel-Lindau disease. Complete resection of the lesion was achieved using left frontopterional craniotomy and no recurrence was observed after 8 years of follow-up. The clinical presentation, radiological features, pathological findings, and the management of this particular case are discussed in the light of the available literature. To our knowledge, this case is the only pituitary stalk HBL with total resection, and a long follow-up fully documented.

Recurrent seizure and sustained encephalopathy associated with dimethylsulfoxide-preserved stem cell infusion.

We report the case of a patient who received two infusions of dimethylsulfoxide (DMSO) cryopreserved autologous peripheral blood progenitor cells (PBPCs) after myeloablative chemotherapy for a relapsing lymphoma. A 49-year-old man presented an episode of tonic-clonic seizure over a few minutes after the start of each infusion and developed a profound and sustained but reversible encephalopathy with coma after the second infusion. The patient's neurological condition correlated well with the electrophysiological findings (electroencephalogram and multimodality evoked potentials) and, to a lesser extent, with the radiological abnormalities (magnetic resonance imaging). Severe but reversible neurological complications may occur with the infusion of PBPCs cryopreserved with DMSO.

Fibrocartilaginous embolization to the spinal cord: serial MR imaging monitoring and pathologic study.

We report the serial MR imaging and neuropathologic findings in a patient with fibrocartilaginous embolism to the spinal cord, presumptively originating from vertebral body endplates. Extensive increased T2 signal intensity, minimal contrast enhancing foci, concomitant vertebral body bone marrow infarction, and terminal cord hemorrhagic necrosis were the main MR imaging features. Pathologic examination of the cord demonstrated arteriolar occlusions by chondrocytic thrombi resulting in hemorrhagic necrosis.

Suitability of helical multislice acquisition technique for routine unenhanced brain CT: an image quality study using a 16-row detector configuration.

Subjective and objective image quality (IQ) criteria, radiation doses, and acquisition times were compared using incremental monoslice, incremental multislice, and helical multislice acquisition techniques for routine unenhanced brain computed tomography (CT). Twenty-four patients were examined by two techniques in the same imaging session using a 16-row CT system equipped with 0.75-width detectors. Contiguous "native" 3-mm-thick slices were reconstructed for all acquisitions from four detectors for each slice (4x0.75 mm), with one channel available per detector. Two protocols were tailored to compare: (1) one-slice vs four-slice incremental images; (2) incremental vs helical four-slice images. Two trained observers independently scored 12 subjective items of IQ. Preference for the technique was assessed by one-tailed t test and the interobserver variation by two-tailed t test. The two observers gave very close IQ scores for the three techniques without significant interobserver variations. Measured IQ parameters failed to reveal any difference between techniques, and an approximate half radiation dose reduction was obtained by using the full 16-row configuration. Acquisition times were cumulatively shortened by using the multislice and the helical modality.

Comparison of five MR sequences for the detection of acute intracranial hemorrhage.

PURPOSE: To evaluate the respective value of 5 MR sequences to distinguish between stroke patients with and without acute intracerebral hemorrhage (ICH). METHODS: MR images obtained < or =6 h after stroke onset of 86 patients (43 ICH, 43 non-ICH) were reviewed by 3 observers who looked for signs of acute ICH on each image set [T(1) and T(2) gradient echo (GRE), FLAIR, T(2)-EPI and DWI], presented separately. RESULTS: For the identification of ICH, intraobserver and interobserver concordance were at least kappa = 0.95 for all sequences. Of all interpretations, 7 (0.4%) were erroneous, with sensitivity and specificity of FLAIR, T(2)-EPI and DWI reaching 100%; GRE sensitivity and specificity were 100% and 95-97.5%, respectively; T(1) sensitivity and specificity were 97.3-100% and 97.4-100%, respectively. All 4 patients misclassified on one pulse sequence were correctly classified on all the other sequences. CONCLUSION: In the setting of acute stroke, each of the 5 studied sequences enables ICH and non-ICH patients to be distinguished with high sensitivity and specificity.