An ultra-long new onset refractory status epilepticus: Winning the battle but losing the war?

New onset refractory status epilepticus (NORSE), is a rare and challenging condition occurring in previously healthy people. The etiology often remains undiscovered and is frequently associated with an unfavorable outcome. We report the electroclinical and neuroradiological evolution of an ultra-long case of NORSE of unknown etiology. A 38-year-old woman with a prodrome of fever, vomiting and diarrhea was admitted to our Intensive Care Unit for refractory convulsive status epilepticus (SE). Her past medical history was unremarkable. Extensive examinations were negative for potential viral, autoimmune and metabolic etiologies. Despite multiple therapeutical attempts with antiseizures medications, anesthetics and immunotherapy, seizures persisted. After nearly 6 months of enduring seizures, SE finally ceased and the patient gradually recovered to a minimum state of awareness. She was then able to communicate through one-word utterances and to understand simple tasks. At a three-years follow-up, she developed multifocal drug-resistant epilepsy, subcortical myoclonus and severe spastic quadraparesis, becoming completely dependent for activities of daily living. To our knowledge, this represents one of the longest cases of NORSE with final status resolution at this time. However, ultra-long SE in this case led to severe and disabling neurological sequelae. Future studies focused on disease modifying treatments for refractory SE are needed.

Guillain-Barré syndrome as only manifestation of COVID-19 infection.

Post-infectious/immune mediated effects of COVID-19 infection include descriptions of Guillain-Barré syndrome (GBS) in patients usually with respiratory failure and after 1-2 weeks from the onset of viral illness. Asymptomatic cases for COVID-19 infection were rarely described. Herein, we studied a 62-year-old patient with progressive weakness of lower extremities, rapidly evolving to a severe, flaccid tetraplegia and dysphagia. Neurological symptoms weren't preceded by fever or pulmonary symptoms. Because of laboratory test abnormalities (thrombocytopenia, lymphocytopenia, high inflammation indexes), the patient underwent to nasopharyngeal swab, resulted positive for SARS-CoV-2 on RT-PCR assay; cerebrospinal fluid (CSF) was negative for SARS-CoV-2. The clinical (severe symmetric distal upper and lower limbs weakness, grade 0/5; decreased proprioceptive sensitivity and hypoesthesia involving the four limbs; loss of deep tendon reflexes), electrophysiological (prevailing axonal polyradiculoneuritis) and CSF features (albumino-cytological dissociation) disclosed the GBS diagnosis (level 1 of diagnostic certainty according to the Brighton criteria). The patient received plasma exchange and immunoglobulin, and, at 4 weeks after treatment and physical therapy, the patient had moderate improvement (weakness at lower and upper extremities was grade 2/5 and 3/5, respectively). Neurologists and clinicians should be aware of the possible link between neurological symptoms and COVID-19 infection, not only after viral prodrome and pulmonary symptoms, but also without COVID-19 symptoms.

The effect of quarantine due to Covid-19 pandemic on seizure frequency in 102 adult people with epilepsy from Apulia and Basilicata regions, Southern Italy.

OBJECTIVE: following the COVID-19 pandemic, a quarantine was imposed to all of regions Italy by 9th March until 3rd May 2020. We investigated the effect of COVID-19 infection and quarantine on seizure frequency in adult people with epilepsy (PwE) of Apulia and Basilicata regions, Southern Italy. METHODS: This is an observational, retrospective study based on prospective data collection of 102 successive PWE. The frequency of seizures was evaluated during pre-quarantine (January- February), quarantine (March-April), and post-quarantine period (May-June), while PwE were divided into A) cases responding to treatment with ≤ 1 seizure per year; B) cases responding to treatment with 2-5 seizure per year; C) cases with drug-resistant epilepsy with ≤ 4 seizures per month; D) cases with drug-resistant epilepsy with 5-10 seizures per month. PwE underwent several self-report questionnaires regarding therapeutic compliance, mood, stress and sleep during quarantine period. RESULTS: Approximately 50 % of PwE showed seizure frequency changes (22.55 % an increase and 27.45 % a reduction) during quarantine. Seizure frequency significantly (p < 0.05) increased in PwE responding to treatment with ≤ 1 seizure per year, while significantly (p < 0.05) reduced in PwE with drug-resistant epilepsy with 5-10 seizures per month. The data was not influenced by therapeutic adherence, sleep and depression. The analysis of anxiety showed a moderate level of anxiety in PwE responding to treatment with < 1 seizure per year, while moderate stress was perceived by all PwE. Seizure frequency changes were related to quarantine, but not to COVID-19 infection. In fact, unlike other regions of Italy, particularly Northern Italy, Apulia and Basilicata regions were less affected by COVID-19 infection, and almost all PwE recognized the quarantine as a stressful event. Emotional distress and anxiety due to social isolation, but also the relative reduction of triggers for epileptic seizures were the most important factors for changes in seizure frequency. CONCLUSIONS: Our study adds to the growing concern that the indirect effects of COVID-19 pandemic will far outstrip the direct consequences of the infection.

The presenting symptoms of Lafora Disease: An electroclinical and genetic study in five Apulian (Southern Italy) families.

PURPOSE: To elucidate the presenting symptoms of Lafora Disease (LD) to differentiate it from Juvenile Myoclonic Epilepsy (JME). METHODS: We collected and evaluated the early electroclinical data of 5 unrelated Apulian (Southern Italy) LD families, 30 LD patients selected from the literature, and 30 Apulian JME patients. RESULTS: The Apulian LD patients presented with generalised tonic-clonic and focal visual seizures, followed by myoclonic seizures and action-postural myoclonus. In these patients, EEG background slowing and occipital epileptiform abnormalities were significantly more evident than in the other groups. Genetic analysis revealed the presence of mutations in the EPM2A gene in 4 families, and in the NHLRC1 gene in the remaining family. In detail, we identified 2 different point mutations in EPM2A and only 1 in NHLRC1, and expanded the molecular spectrum of the EPM2A gene mutations reporting for the first time a patient carrier of the c.243_246del genetic variant. In the previously reported LD cases, generalised tonic-clonic and focal visual seizures and myoclonus were the most frequent symptoms, as confirmed by the first EEGs showing occipital or diffuse epileptiform abnormalities with photosensitivity in the background activity slowing. In the Apulian JME patients, myoclonus appeared earlier, usually at awakening, with diffuse epileptiform abnormalities during sleep and photosensitivity in the normal background activity. The diagnosis of JME was established much earlier than the LD one. During evolution, unlike JME patients, LD patients showed a significant resistance to drugs. CONCLUSIONS: Tonic-clonic and focal visual seizures followed by myoclonic seizures and action-postural myoclonus together with EEG background slowing with diffuse and occipital epileptiform abnormalities suggest a diagnosis of LD. An early molecular confirmation allows a better diagnosis, counselling and management of affected patients and their families, and it may be useful to improve the patients' quality of life using, when possible, emerging personalized treatments that may slow the evolution of the disease.

Faciobrachial dystonic seizures expressed as epileptic spasms, followed by focal seizures in anti-LGI1 encephalitis: a video-polygraphic study.

The origin of faciobrachial dystonic seizures in anti-LGI1 encephalitis is controversial due to a lack of neurophysiological characterization. We report a 68-year-old man with subacute anterograde memory loss and involuntary faciobrachial movements. Video-polygraphic recordings disclosed repetitive events characterized by sudden, short contraction of the upper limbs and ipsilateral hemiface. A focal contralateral EEG slow wave from frontal or central electrodes was accompanied by increased muscle activity, often with a diamond-shaped configuration, on the orbicularis oris muscle, deltoid muscle, and extensor muscle of the hand. This EEG/EMG pattern (resembling a tonic epileptic spasm) was always followed by oral and gestural automatisms with dystonic posturing of the upper limbs, compatible with a temporal lobe seizure. Brain MRI showed hyperintensity in the bilateral mesial temporal lobes, while 18FDG-PET revealed basal ganglia hypermetabolism with extensive cortical hypometabolism. Serum and CSF were both positive for anti-LGI antibodies. The patient was treated with intravenous methylprednisolone (1 g/day for five days) with seizure freedom within four days after initiation of the immunotherapy. In this case, a video-EEG/polygraphic study disclosed that faciobrachial dystonic seizures may resemble epileptic spasms, and the occurrence in close temporal association with focal seizures as a single ictal event is suggestive of a peculiar cortical-subcortical interaction. [Published with video sequence on www.epilepticdisorders.com].

First-aid management of tonic-clonic seizures among healthcare personnel: A survey by the Apulian section of the Italian League Against Epilepsy.

INTRODUCTION: To evaluate the knowledge of healthcare workers about first-aid measures to be performed during and after a tonic-clonic seizure. METHODS: One hundred and fifty-four healthcare workers (86 physicians) working at 8 tertiary hospitals in the Apulia region, Italy, responded to a questionnaire comprising of 28 questions based on available Italian and international recommendations about what to do during a tonic-clonic seizure. RESULTS: One hundred and fifty-four healthcare workers completed and returned surveys with a response rate of 96.25%. There were 55 nurses (35.7%), 86 physicians (55.8%), and 13 healthcare workers with different roles (Electroencephalograph technicians, psychologists, social workers). Among physicians, there were 7 cardiologists, 3 surgeons, 12 infectious-disease specialists, 11 internal medicine specialists, 2 psychiatrists, 2 gynecologists, 27 specialists working in the emergency department, and 22 physicians with different specializations. Nearly 90% of the respondents identified head protection as important first aid, while 100% responded to not keep the legs elevated. To avoid tongue bite, both physicians and other healthcare workers would put something in the mouth (54.0%), like a Guedel cannula (71.0%) fingers (29.5%). Grabbing arms and legs, trying to stop the seizure, would be potentially performed by 11.6% of our sample. Physicians would administer a benzodiazepine during the seizure (65.7%) and during the postictal phase (29.2%), even if the patient is known to have epilepsy (23.7%), and in this case, 11.3% of respondents would administer the usual antiepileptic medications. More than half of respondents would call the emergency telephone number, because of necessary hospitalization in case of tonic-clonic seizure, even if it is experienced by a patient known to have epilepsy. CONCLUSION: Our survey suggests the need for epilepsy educational programs on first-aid management of seizures among healthcare workers.

Wernicke's encephalopathy following reduced food intake due to depressive disorders.

Wernicke's encephalopathy (WE) is an unexpected common neurological disorder caused by thiamine deficiency often due to alcohol abuse, but WE-not alcohol related is also frequent. A prolonged reduction of food intake can cause WE. This condition can arise in depression disorders, especially in the early stages of these psychiatric syndromes. WE is characterized by the triad of signs: ataxia, ocular dysfunctions and confusional state. However, they rarely appear together and this makes the diagnosis particularly difficult, especially when there is not a history of alcohol abuse. Electroencephalography, since in the early stage of the disease, can be helpful in detecting pattern of metabolic encephalopathy. We describe three cases of thiamine deficiency responsible of WE, caused by a decrease in appetite and food intake due to the onset of a depressive disorder. In our series, the most frequent symptom observed at the onset of the disease was the motor incoordination. We recommend to perform quickly thiamine infusion in all depressed patients with a history of reduced food intake, presenting to Emergency Department with recent onset of motor incoordination, with or without alterations in eyes' movements and confusional state, after exclusion of other neurological conditions.

Weight loss and decubitus duodenal ulcer in Parkinson's disease treated with levodopa-carbidopa intestinal gel infusion.

Apparently, unexplained weight loss is a common symptom experienced by patients affected by Parkinson's disease, especially in those treated by levodopa-carbidopa infusion gel (LCIG) with a poor control of dyskinesias. Weight loss is considered part of gastrointestinal dysfunction seen in patients affected by Parkinson's disease, along with gastroparesis and reduced bowel peristalsis. In patients treated with LCIG, weight loss needs to be accurately evaluated, because of possible underlying life-threatening adverse events, like duodenum decubitus ulcer.