Tetanus-induced rhythmic seizures mimicking the clinical and electroencephalographic presentation of status epilepticus.

We describe the case of a woman in her 60s admitted to the intensive care unit after a first generalised tonic-clonic seizure in the context of alcohol withdrawal. She was placed under invasive mechanical ventilation due to persistence of coma despite antiepileptic treatment. Despite continuous sedation with propofol, the frequency and intensity of seizure increased. Seizures were very similar to epileptic tonic-clonic seizures and were recorded with video and electroencephalogram (EEG). A diagnosis of tetanus was considered after a scalp wound was discovered. The patient's husband revealed that a trismus had appeared a few days before hospital admission after a head trauma. EEG showed a pattern of diffuse spikes, which disappeared after a cisatracurium bolus. The diagnosis of tetanus was later confirmed by cultures from wound samples. Therefore, severe tetanus can mimic both the clinical and EEG features of status epilepticus and could be added to the differential diagnosis of epilepsy.

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.

BACKGROUND AND OBJECTIVES: Pathogenic STXBP1 variants cause a severe early-onset developmental and epileptic encephalopathy (STXBP1-DEE). We aimed to investigate the natural history of STXBP1-DEE in adults focusing on seizure evolution, the presence of movement disorders, and the level of functional (in)dependence. METHODS: In this observational study, patients with a minimum age of 18 years carrying a (likely) pathogenic STXBP1 variant were recruited through medical genetics departments and epilepsy centers. Treating clinicians completed clinical questionnaires and performed semistructured video examinations while performing tasks from the (modified) Unified Parkinson Disease Rating Scale when possible. RESULTS: Thirty adult patients were included for summary statistics, with video recordings available for 19 patients. The median age at last follow-up was 24 years (range 18-58 years). All patients had epilepsy, with a median onset age of 3.5 months. At last follow-up, 80% of adults had treatment-resistant seizures despite long periods of seizure freedom in 37%. Tonic-clonic, focal, and tonic seizures were most frequent in adults. Epileptic spasms, an unusual feature beyond infancy, were present in 3 adults. All individuals had developmental impairment. Periods of regression were present in 59% and did not always correlate with flare-ups in seizure activity. Eighty-seven percent had severe or profound intellectual disability, 42% had autistic features, and 65% had significant behavioral problems. Video examinations showed gait disorders in all 12 patients able to walk, including postural abnormalities with external rotation of the feet, broad-based gait, and asymmetric posture/dystonia. Tremor, present in 56%, was predominantly of the intention/action type. Stereotypies were seen in 63%. Functional outcome concerning mobility was variable ranging from independent walking (50%) to wheelchair dependence (39%). Seventy-one percent of adults were nonverbal, and all were dependent on caregivers for most activities of daily living. DISCUSSION: STXBP1-DEE warrants continuous monitoring for seizures in adult life. Periods of regression are more frequent than previously established and can occur into adulthood. Movement disorders are often present and involve multiple systems. Although functional mobility is variable in adulthood, STXBP1-DEE frequently leads to severe cognitive impairments and a high level of functional dependence. Understanding the natural history of STXBP1-DEE is important for prognostication and will inform future therapeutic trials.

[Neurodevelopmental disorders modify neurodegenerative diseases: a medical history to screen in memory clinic]. / Les troubles neurodéveloppementaux miment ou influencent les pathologies neurodégénératives : prise en compte des antécédents neurodéveloppementaux en consultation mémoire.

Neurodevelopmental disorders are frequent in the general population and are often lifelong conditions despite sometimes being masked by conscious or unconscious compensation and avoidance mechanisms. These conditions are often unknown or underestimated in adults, even when diagnosed in childhood. Neurodevelopmental disorders share similarities with and frequently interact in a complex way with neurodegenerative disorders. Considering these aspects during memory clinic assessments can provide a new perspective on lifelong neurocognitive trajectories. Assessing both neurodevelopmental and neurodegenerative dimensions is challenging but should improve diagnostic accuracy. It is therefore necessary to understand the lifelong specific neurocognitive trajectory of each patient in order to develop personalized and focused cognitive medicine and care.

Late-onset post-lesional paroxysmal hypothermia: a case series and literature review.

BACKGROUND: Paroxysmal hypothermia (PH) is a rare condition characterized by recurrent episodes of spontaneous hypothermia, bradycardia, disorders of consciousness and, in some cases, hyperhidrosis. When associated with a detectable hypothalamic lesion, PH episodes usually occur shortly after the brain insult. METHODS: We performed a retrospective study to identify patients who had demonstrated at least one episode of symptomatic spontaneous PH as defined by (i) tympanic temperature < 35 °C; (ii) drowsiness and/or confusion state and/or coma; (iii) duration of the episode ≥ 24 h; (iv) absence of other condition resulting in hypothermia RESULTS: Among 8824 patients, we identified four patients with recurrent late-onset PH episodes of 1-26-day duration that occurred 6-46 years after the brain insult. The lesion always involved the diencephalon. All patients suffered from epilepsy and three of hypopituitarism. PH episode typically included severe hypothermia, bradycardia, drowsiness, thrombocytopenia and in some patients central hypoventilation and narcolepsy-like hypersomnia. In » of episodes, confusion was mistaken as non-convulsive epileptic manifestation resulting in benzodiazepine administration which aggravated symptoms. In the two patients with nocturnal hypoventilation, chronic non-invasive ventilation with bi-level positive airway pressure allowed cessation of symptomatic episodes. DISCUSSION: Late-onset post-lesional PH is exceptional with only a single case hitherto reported in the literature. Distinguishing hypothermia-related disturbances of consciousness from epileptic seizures or post-ictal phenomena is crucial since treatment with benzodiazepines may worsen hypothermia through their action on GABAa receptors. Lastly, PH may be associated with sleep disorders and hypoventilation, for which investigations and treatment should be considered.

Task-induced gamma band effect in type II focal cortical dysplasia: An exploratory study.

OBJECTIVE: Few data are available about the functionality of type II focal cortical dysplasia (FCD). Identification of high-frequency activities (HFAs) induced by cognitive tasks has been proposed as an additional way to map cognitive functions in patients undergoing presurgical evaluation using stereoelectroencephalography (SEEG). However, the repetitive subcontinuous spiking pattern which characterizes type II FCD might limit the reliability of this approach, and its feasibility in these patients remains to be evaluated. METHODS: Seven patients whose magnetic resonance imaging (MRI) data, SEEG data, and/or pathological data were consistent with the diagnosis of type II FCD were included. All patients performed standardized cognitive tasks specifically designed to map task-induced increase of HFA (50 Hz to 150 Hz) at the recorded sites. Electrode contacts which showed an interictal SEEG pattern typical of type II FCD were considered to be localized within the FCD. A site was considered responsive if it was significantly different from baseline in at least one cognitive task. RESULTS: Three of the seven patients (43%) had significant task-induced increase of HFA in the FCD for a total of 15 sites with an interictal SEEG pattern typical of type II FCD. These sites were always localized at the external border of the FCD whereas no HFA response was in the core of FCD. In three of the four other patients, a significant task-induced increase of HFA was observed in a cortical site immediately adjacent to the dysplastic cortex. SIGNIFICANCE: Detection of task-induced HFA remains feasible despite the repetitive subcontinuous spiking pattern which characterizes type II FCD. Depending on the localization of the FCD, some sites of the dysplastic cortex were included in large-scale functional networks. However, these sites were always those closest to the nondysplastic cortex suggesting that persistence of cortical functions might be restricted to a limited part of the FCD.

DAPHNE: A New Tool for the Assessment of the Behavioral Variant of Frontotemporal Dementia.

BACKGROUND: The diagnosis of behavioral variant of frontotemporal dementia (bvFTD) relies primarily on clinical features and remains challenging. The specificity of the recently revised criteria can be disappointing, justifying development of new clinical tools. OBJECTIVE: We produced a behavioral inventory named DAPHNE. This scale (adapted from Rascovsky's criteria) explores six domains: disinhibition, apathy, perseverations, hyperorality, personal neglect and loss of empathy. It is composed of ten items (five answer categories). The aim was (1) to assess the validity and reliability of DAPHNE and (2) to evaluate its contribution in differentiating patients. METHODS: Two scores were computed: DAPHNE-6 (screening) from the six domains and DAPHNE-40 (diagnosis) from the ten items. Reliability and reproducibility were assessed. External validity was studied with the Frontal Behavioral Inventory (FBI) and the Frontotemporal Behavioral Scale (FBS). Finally, the diagnostic performance of DAPHNE was compared to revised criteria, FBI and FBS. RESULTS: DAPHNE was administered to the caregivers of 89 patients, 36 with bvFTD, 22 with Alzheimer's disease, 15 with progressive supranuclear palsy and 16 with bipolar disorder. Reliability and reproducibility were excellent, as was external validity. DAPHNE-6 allowed bvFTD diagnosis (score ≥4) with a sensitivity of 92%, while DAPHNE-40 (score ≥15) had a specificity of 92%. CONCLUSION: We demonstrate excellent psychometric features for DAPHNE. This quick tool could help for both diagnosing and screening bvFTD.

[Interest of a mental representation approach to the disclosure of Alzheimer's disease diagnosis]. / Mieux comprendre les représentations de la maladie d'Alzheimer pour améliorer l'annonce du diagnostic.

This paper explores the mental representation of Alzheimer disease (AD) by assessing the number of words given by the subjects when asked to quickly write seven words characterizing AD in three groups of subjects: 22 caregivers, 22 professional informants, and 28 naïve subjects. The generated words were classified into six dimensions: memory, other neuropsychological impairments, behavioral disorders, consequences on caregiver relationships, familial and social changes, and health. AD mental representation was clearly negative in the three groups and did not differ between groups. Memory was the most frequent dimension reported in all groups with 78 quoted words (20.1% of responses). However the hierarchical classification of the dimensions differed in the three groups. The caregivers reported more words related to social and familial changes. Social and familial modifications, and behavioral changes were first reported by the professionals. The naïve subjects firstly quoted words concerning memory and others neuropsychological deficits. However, naïve subjects who had previously be in contact with AD patients mainly reported words about behavior changes. Actually, naïve subjects are not fully naïve because the clinical aspects of the disease are currently well known in the general population. Families and professional informants reported that AD familial and social changes had a deeper impact than cognitive or behavioral aspects. This preliminary study suggests that AD mental representation is the same in the general population, but the weight of the different dimensions affecting AD differed between subjects concerned or not by the disease (family or professional versus naïve subjects). Therefore, the weight of the different dimensions is to be taken into account for a better approach of the disclosure of AD diagnosis.

Emergence of hyper empathy after right amygdalohippocampectomy.

We report a fascinating case of a patient with a hyper empathy that appeared after resective epilepsy surgery. This behavioral modification has remained unchanged since the surgery took place 13 years ago. Recent neuropsychological objective assessments confirmed hyper empathy in a self-report questionnaire, and revealed higher affective theory of mind than controls in a "Reading the Mind in the Eyes Task." Temporal lobe epilepsy is the most common form of epilepsy and the investigation of emotional processes after surgery in these patients deserves to be related.

Fear recognition impairment in early-stage Alzheimer's disease: when focusing on the eyes region improves performance.

A decline in the ability to identify fearful expression has been frequently reported in patients with Alzheimer's disease (AD). In patients with severe destruction of the bilateral amygdala, similar difficulties have been reduced by using an explicit visual exploration strategy focusing on gaze. The current study assessed the possibility of applying a similar strategy in AD patients to improve fear recognition. It also assessed the possibility of improving fear recognition when a visual exploration strategy induced AD patients to process the eyes region. Seventeen patients with mild AD and 34 healthy subjects (17 young adults and 17 older adults) performed a classical task of emotional identification of faces expressing happiness, anger, and fear in two conditions: The face appeared progressively from the eyes region to the periphery (eyes region condition) or it appeared as a whole (global condition). Specific impairment in identifying a fearful expression was shown in AD patients compared with older adult controls during the global condition. Fear expression recognition was significantly improved in AD patients during the eyes region condition, in which they performed similarly to older adult controls. Our results suggest that using a different strategy of face exploration, starting first with processing of the eyes region, may compensate for a fear recognition deficit in AD patients. Findings suggest that a part of this deficit could be related to visuo-perceptual impairments. Additionally, these findings suggest that the decline of fearful face recognition reported in both normal aging and in AD may result from impairment of non-amygdalar processing in both groups and impairment of amygdalar-dependent processing in AD.

Perceived eye region and the processing of fearful expressions in mild cognitive impairment patients.

BACKGROUND: The aim of the present study was to assess the possibility of compensating early facial expression recognition impairments in amnestic Mild Cognitive Impairment (a-MCI) patients. METHODS: Twelve patients with a-MCI and 17 healthy participants matched according to age and education participated in the study. The originality of the present study was to cue the recognition of facial expressions (happiness, anger, fear, and neutral) by comparing eye region expressions and entire facial expressions. RESULTS: A deficit in the recognition of fearful expressions was observed in a-MCI patients relative to the control group, whereas recognition of all the other emotional expressions was spared. Nevertheless, when eye expressions cued the recognition of fearful facial expressions, the performance of normal controls and a-MCI patients was comparable. CONCLUSION: The present paper indicates a selective impairment in fear recognition in the prodromal state of Alzheimer's disease, and the possibility of compensating this deficit by orienting selective attention on specific facial features.

Longitudinal myelitis in a patient with systemic lupus erythematosus.

Longitudinal myelitis is an exceedingly rare complication of systemic lupus erythematosus (SLE), of which only 11 cases have been published so far. We report a case in a 65-year-old woman in whom spinal cord dysfunction developed over several weeks, resulting in tetraparesis. She had a known history of SLE with a circulating anticoagulant. Magnetic resonance imaging of the spine and a stereotactic biopsy of a brain lesion established the diagnosis of SLE-related longitudinal myelitis. High-dose glucocorticoid therapy had started to bring about an improvement when she experienced a series of complications that were eventually fatal. Her case is unusual in that longitudinal myelitis is exceedingly rare in patients with SLE.