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

Exploration of Verbal and Non-verbal Semantic Knowledge and Autobiographical Memories Starting from Popular Songs in Alzheimer\u27s Disease

BACKGROUND: In mild Alzheimer\u27s disease (AD), a deficit in episodic memory, particularly autobiographical memory, is clearly established. Several recent studies have also shown impaired semantic memory from the onset of the disease. Musical memory capacities may be especially preserved and listening to music might encourage autobiographical recall. The aim of this study was to explore recall of popular songs in AD. METHODS: We tested 12 patients with mild AD and 12 control subjects. We created a tool made up of old French popular songs: POP 10. This tool is a questionnaire composed of several subtests: melodic free recall, chorus free recall, melodic recognition, chorus recognition, semantic knowledge, autobiographical recall about the song, and autobiographical recall about the interpreter. RESULTS: We used non-parametric tests, the Mann-Whitney test (M-W), the Friedman test, and the a posteriori Wilcoxon test. Results of AD patients were rather similar to those of control participants for melodic memory. Concerning chorus memory (except recognition), semantic knowledge, and autobiographical recall about the interpreter, results of AD patients were significantly weaker than those of control participants. The most important result concerned autobiographical recall about the song: we found no impairment-related differences between the two groups. CONCLUSION: Our findings demonstrate that popular songs can be excellent stimuli for reminiscence, such as the ability to produce an autobiographical memory related to a song. Thus, we confirm that musical semantic knowledge associated with a song may be relatively preserved in the early stages of AD. This leads to new possibilities for cognitive stimulation

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

International audienc

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

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