Benign food-borne type B botulism presenting as unilateral internal ophthalmoplegia: a case report.

BACKGROUND: Food-borne botulism is a rare neuromuscular junction disorder due to the effect of toxins released from Clostridium botulinum ingested by eating improperly stored food. Its classic manifestation is a rapidly evolving descending symmetrical flaccid paralysis with dysautonomia. CASE PRESENTATION: We have described a case of type B food-borne botulism with a benign clinical course characterized by an initially unilateral tonic mydriatic pupil. An extensive neurophysiological evaluation inclusive of pilocarpine eye drop(s) test, facial and limbs nerve stimulation and sudomotor tests, was decisively leading the diagnostic process. CONCLUSIONS: The importance of what has been described here lies in underlining that it is always advisable to consider food-borne botulinum intoxication, even in the case of unilateral/asymmetrical internal ophthalmoplegia without generalized progressive involvement of the voluntary muscles.

Scientific research of Italian neurologists from 2008 to 2011.

Quantifying the number of publications is the easiest way to estimate the scientific production of a country in any scientific field. The aim of this article is to provide information about the scientific production from 2008 to 2011 of Italian neurologists and to compare it with scientific production data of other countries. The analysis regarded the research in Web of Science, in the Subject Category Clinical Neurology, of the publications published from 2008 to 2011, with at least one Italian author belonging to a scientific Italian institution. The overall data, their quality and scientific impact were compared with those of the first 15 world countries for scientific production. We observed that even if the Gross National Product of Italy registered a slight and gradual reduction from 2008 to 2011, the neurological scientific production of Italian neurologists showed an increase in the number of papers, maintaining the fifth position in these four years after USA, Germany, England and Japan. Moreover, dividing the neurological journals in quartiles according to the impact factor, we observed constant increase of the numbers of Italian publications in the highest quartile journals during the considered period. These data suggest that from 2008 to 2011 Italian neurologists have increased the number of publications, also improving the quality of works.

Intravenous alteplase for acute ischemic stroke in patients with current malignant neoplasm.

BACKGROUND: The current European license for Alteplase in acute ischemic stroke excludes the patients who have neoplasm with increased bleeding, but this criterion is not clearly defined. The aim of the present study is to assess whether intravenous (IV) thrombolysis is safe and effective in patients with current non-malignant neoplasm in absence of metastatic disease or other additional risk factors of bleeding. METHODS: We reviewed the clinical characteristics of 11 thrombolysed patients with current malignant neoplasm. We decided to treat only patients who did not have one or more of the following additional risk factors of bleeding: metastatic malignant disease; recent bleeding; documented hemorrhagic diathesis, also including baseline normal platelet count, activated partial thromboplastin time and prothrombin time value; and anticoagulant treatment on admission. RESULTS: Cancer was diagnosed before IV thrombolysis in 9 patients, while non-metastatic malignant disease was incidentally detected after IV thrombolysis in 2 patients. None of the patients showed severe hemorrhagic complications. At 7days, all patients that showed a reduction of 4 points or more in the National Institutes of Health Stroke Scale from baseline were asymptomatic. At 3months, functional outcome was favorable in 7 (73%) patients. CONCLUSIONS: Our experience suggests that IV thrombolysis does not appear to increase the risk of hemorrhagic complications in current non-metastatic cancer patients in absence of additional risk factors of bleeding. In addition, these patients showed clinical improvement after IV thrombolysis, although replication of our findings in a randomized controlled trial is required to confirm our results.

Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype.

Genetic germinal and somatic mosaicisms of dominant Charcot-Marie-Tooth disease (CMT) mutations are rarely reported and/or recognized. We describe a novel heterozygous p.Trp39Cys missense mutation in the extracellular domain of the peripheral myelin protein 22 (PMP22) associated with an early-onset demyelinating CMT type 1 E (CMT1E) in two siblings born from asymptomatic non-consanguineous parents. The 29-year-old mother, harboring approximately 20% of the mutant PMP22 allele in blood, had minor signs of distal polyneuropathy (pes cavus, decreased ankle jerk reflexes and vibration sense in legs) and slight reduction of sural nerve action potentials (SNAPs). Authors suggest that mutations of CMT-related genes which originate in post-zygotic stages may be associated with mild phenotypes of peripheral neuropathy.