Atypical and early symptoms of sporadic Creutzfeldt - Jakob disease: case series and review of the literature.

BACKGROUND: Prion diseases are rapidly progressive fatal conditions caused by abnormally shaped proteins. Sporadic Creutzfeldt - Jakob disease (sCJD) is the most common human prion disorder accounting for 85-90 % of cases. Clinical manifestations include rapidly evolving dementia in conjunction with neurological symptoms such as ataxia, myoclonus, pyramidal and extrapyramidal signs. However, the early symptoms of the disease are often non-specific and mental disorder is delayed, making the diagnostic process difficult and challenging. PATIENTS AND METHODS: We present 3 cases with atypical early symptoms and late onset of cognitive decline. The first case presented with isolated visual symptoms (Heidenhain variant), the second patient had isolated anomic aphasia and the third one non-convulsive status epilepticus. A review of the past literature concerning the atypical and rare early clinical features of the sCJD was conducted. RESULTS: The following manifestations were found: psychiatric and visual symptoms, which are relatively common, epileptic seizures, otologic symptoms and presentation of sCJD as an acute vascular event. Moreover, language, communication and writing impairments, movement disorders, symptoms from the peripheral nervous system and bulbar signs were reported as well. CONCLUSION: Increased clinical suspicion, along with the aid of existing diagnostic methods and the development of novel techniques could contribute to a better understanding of the disease's pathophysiology, early and accurate diagnosis and improvement of patient management.

Serum BDNF Levels in Acute Stroke: A Systematic Review and Meta-Analysis.

Background and objectives: Brain-derived neurotrophic factor (BDNF) is one of the most studied neurotrophins. Low BDNF concentrations have been noted in patients with traditional cardiovascular disease risk factors and have been associated with the increased risk of stroke/transient ischemic attack (TIA). We aimed to study the correlation of BDNF serum levels with acute stroke severity and its potential role as a biomarker in predicting functional outcome. Materials and methods: We systematically searched PubMed, Web of Science, and the Cochrane database using specific keywords. The endpoints examined were the correlation of BDNF with functional outcome, the National Institute of Health stroke scale (NIHSS) measured at the acute phase, and stroke infarct volume. We also compared serum BDNF levels between stroke patients and healthy controls. Results: Twenty-six records were included from the initial 3088 identified. Twenty-five studies reported NIHSS and BDNF levels on the first day after acute stroke. Nine studies were further meta-analyzed. A statistically significant negative correlation between NIHSS and BDNF levels during the acute phase of stroke was noted (COR: -0.3013, 95%CI: (-0.4725; -0.1082), z = -3.01, p = 0.0026). We also noted that BDNF levels were significantly lower in patients with stroke compared to healthy individuals. Due to the heterogeneity of studies, we only conducted a qualitative analysis regarding serum BDNF and functional outcome, while no correlation between BDNF levels and stroke infarct volume was noted. Conclusions: We conclude that in the acute stroke phase, stroke severity is negatively correlated with BDNF levels. Concurrently, patients with acute stroke have significantly lower BDNF levels in serum compared to healthy controls. No correlations between BDNF and stroke infarct volume or functional outcome at follow-up were noted.

Spontaneous Epidural Hematomas due to Cerebral Venous Thrombosis in a Patient with Immune Thrombocytopenic Purpura.

INTRODUCTION: Intracerebral haemorrhage in patients suffering from cerebral venous thrombosis (CVT) is relatively uncommon. CVT typically occurs in hypercoagulable state of various causes. Some drugs play a causative role in CVT and thrombopoietin receptor agonists are among them. CASE SUMMARY: We present a female patient with refractory immune thrombocytopenic purpura (ITP) treated with romiplostim, suffering from severe thrombosis of jugular vein expanding intracranially. Despite being treated with adequate anticoagulation, she developed spontaneous bilateral epidural and subdural hematomas with devastating outcome. DISCUSSION: To our knowledge, this is the first reported case of spontaneous atraumatic epidural hematomas due to CVT in adult patient. We support that in our patient, blood stasis leading to the dissection of dura mater, platelet dysfunction, and anticoagulation treatment contributed to the formation of the intracranial, extracerebral haemorrhages.

Paraneoplastic cerebellar degeneration in a patient with breast cancer associated with carbonic anhydrase-related protein VIII autoantibodies.

Paraneoplastic cerebellar degeneration is a neurological syndrome resulting from immune-mediated dysfunction of Purkinje cells and commonly is associated with a tumor. In most cases, well-characterized onconeural antibodies are detected, such as anti-Yo and anti-Ri antibodies. Carbonic anhydrase-related protein VIII (CARP VIII) antibodies associated with paraneoplastic cerebellar degeneration have been previously described in only two cases. Herein, we present a 75-year-old female who developed progressive cerebellar ataxia. Anti-CARP VIII autoantibodies were found at high titres and screening for underlying malignancies revealed a breast cancer. Intravenous immunoglobulin was administered with poor results. Our report further confirms the role of CARP VIII antibodies in cerebellar degeneration.