"Limbic encephalitis with acute onset and Hu antibodies treated with rituximab: Paraneoplastic or non-paraneoplastic disorder?"

Paraneoplastic limbic encephalitis (PLE) associated with Hu antibodies is a rare autoimmune disorder usually characterized by subacute onset of slowly progressive neurocognitive symptoms. Small cell lung carcinoma is the most frequent PLE-associated cancer, which negatively affects the prognosis of the disease. We report on a patient with acute onset of confusional state and disorganized speech. Cerebrospinal fluid analysis and brain MRI temporal lesions corroborated the diagnostic suspects toward infectious or autoimmune encephalitis but testing for onconeural antibodies suggested the alternative diagnosis of PLE, in the absence of cancer (total-body CT and PET were negative). The patient's serum was positive for Hu antibodies, thus leading to a diagnosis of PLE. First-line immunotherapies were ineffective on the neurocognitive symptoms, which improved after rituximab. Six months later, a retropharyngeal peri-jugular mass was histopathologically diagnosed as a metastasis of lung neuroendocrine tumor. Still clinically improved, the patient died from the oncological disease-related complications. Testing for onconeural antibodies should be considered in patients with clinico-radiological features of acute infectious or autoimmune encephalitis.

Early detection of encephalitis with (18)F-FDG PET/CT.

Encephalitis is a relatively rare condition for which making an accurate diagnosis can be challenging. In fact, clinical features are not specific and structural imaging can be normal in a considerable number of cases. However, an early diagnosis is important as many forms of treatment are effective if started promptly. Even though recent guidelines do not recommend (18)F-FDG PET/CT for patients with suspected encephalitis, the case presented suggests that (18)F-FDG PET/CT may play a relevant role for the early diagnosis of this clinical condition.

Coma with Vertical Gaze Palsy: Relevance of Angio-CT in Acute Percheron Artery Syndrome.

BACKGROUND: A 63-year-old woman with chronic atrial fibrillation treated with warfarin was admitted to emergency for coma and complete vertical gaze palsy. Investigations: Brain CT and MRI, echo-colour Doppler sonography of the supraaortic vessels, angio-CT of the intracranial vessels, EEG, transesophageal echocardiogram, biohumoral tests. Brain CT and MRI scans showed bilateral thalamic lesions with involvement of the right midbrain; EEG showed a diffuse alpha rhythm prevalent on the posterior regions; echo-colour Doppler sonography of the supraaortic vessels showed marked reduction of blood flow in the right vertebral artery; angio-CT scans showed occlusion of the right vertebral artery and a significant filling defect of the first part of the right posterior cerebral artery (P1) from which the artery of Percheron arises. A follow-up angio-CT showed a complete recanalization of P1. Diagnosis: Percheron artery syndrome. Treatment and Management: Aspirin, neurorehabilitation.

Clinical and genetic study of a family with spinocerebellar ataxia type 1 (SCA1) and beta-thalassemia.

We report a family affected by autosomal dominant ataxia, in which numerous members also showed microcytosis. Genetic analysis demonstrated a CAG expansion in the SCA1 locus in five members, while all subjects with microcytosis revealed a C-T substitution at codon 39 of the beta-globin gene. A pure cerebellar syndrome with prominent gait ataxia characterized the first stages of the neurological disease. The fully developed disease included additional clinical findings such as dysarthria and dysphagia, and instrumental signs of axonal involvement of the peripheral nerves. Ophthalmoplegia was not observed. The coexistence of hereditary spinocerebellar degeneration and erythropathies or hemoglobinopathies has been previously described. We discuss the possible linkages between these two pathologies.