3.0T MR investigation of CLIPPERS: role of susceptibility weighted and perfusion weighted imaging.

For the first time we describe and interpret Susceptibility Weighted Imaging (SWI) and Perfusion Weighted Imaging (PWI) findings in a case of Chronic Lymphocytic Inflammation with Perivascular Pontine Enhancement Responsive to Steroids (CLIPPERS). The diagnosis of the disease was formulated on the basis of typical Magnetic Resonance (MR) findings and its responsiveness to steroids in a 40-year-old man with acute onset of dizziness, ataxia and diplopia. The patient underwent a 3 tesla (T) MR examination including SWI and PWI sequences. SWI revealed prominent veins and multiple hypointense lesions of different size widely distributed in brainstem and cerebellum, which could be expression of iron deposition or cellular infiltrates. PWI demonstrated global infratentorial hypoperfusion. SWI and PWI provide new information on CLIPPERS that might be helpful to understand the physiopathology of the disease. Further observations are needed to evaluate if these findings are peculiar for CLIPPERS and if they might have a role in a non-invasive diagnosis of the disease.

Nerve, muscle and heart acute toxicity following oxaliplatin and capecitabine treatment.

Capecitabine plus oxaliplatin combination (XELOX) is the first-line treatment in metastatic colorectal cancer. Here we report a case of acute, severe but substantially reversible, neuromuscular and cardiac toxicity following XELOX chemotherapy. Muscle biopsy findings were consistent with a toxic myopathy with necrotizing features and vacuolar changes; COX-negative fibers were also present. The time course could support a main role for capecitabine, which may have some neurotoxic effects (more frequently central), but a detrimental interaction between the two drugs cannot be ruled out and further studies are needed.

Primary angiitis of the central nervous system: report of eight cases from a single Italian center.

The primary angiitis of the central nervous system (PACNS) is a rare and potentially fatal form of vasculitis with unknown etiology. Headache and encephalopathy are the most frequent symptoms. Neuroimaging plays an important role in the diagnosis, but the pattern of abnormal findings is not specific. In some cases brain biopsy is mandatory. PACNS is often described as a diagnostic and therapeutic challenge for clinicians considering the lack of univocal diagnostic criteria and paucity of studies evaluating the long-term outcome. This brief work reports how we managed eight patients with PACNS from diagnosis to long-term follow up treatment. Headache and focal acute neurological deficits were the most common symptoms. Magnetic resonance imaging (MRI) was abnormal in all patients with different patterns of infarctions or intraparenchymal/subarachnoid hemorrhages or their combination. Cerebral angiography demonstrated pathological findings compatible with vasculitis in all cases. Other causes of encephalopathy were ruled out. Patients with severe clinical and neuroradiological findings were treated with steroids and immunosuppressive therapy using cyclophosphamide/methotrexate. Patients with less aggressive PACNS, were treated with steroids only. In one case with multiple relapses infliximab was used after first-line immunosuppressive therapy failure. PACNS suspicion is based on the combination of demographic/clinical and MRI findings and the exclusion of other causes of multifocal encephalopathy. A positive angiography has a diagnostic value in an adequate clinical field. A strict collaboration of neurologists, neuroradiologists, and immunoreumatologists is essential in the management of PACNS both in the diagnostic and therapeutic phases.

Creutzfeldt-Jakob disease with E200K PRNP mutation: a case report and revision of the literature.

Creutzfeldt-Jakob disease (CJD) is typically characterized by rapidly progressive dementia and myoclonus, and it is caused by a conformational change of the prion protein. The heritable forms are associated with mutation in the gene encoding the prion protein (PRNP). We report a 63-year-old Italian woman harboring the E200K PRNP mutation. Electroencephalogram, cerebrospinal fluid analysis, PRNP gene sequencing, histopathologic examination, immunohistochemical studies, and Western blotting analysis confirmed the diagnosis of CJD. Pyramidal involvement was the first sign and the prominent clinical feature. Later on, she developed also myoclonus, ataxia, spastic tetraplegia, and at last dementia with akinetic mutism. Usually, signs of degeneration of the pyramidal tracts occur in a small number of patients as the disease advances. Our report supports the variability of the clinical expression of the E200K genetic CJD. Further studies are needed to understand the molecular basis underlying the phenotypic variability among patients carrying this mutation.