Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report.

BACKGROUND: Progressive Myoclonic Epilepsy (PME) is a group of rare diseases that are difficult to differentiate from one another based on phenotypical characteristics. CASE REPORT: We report a case of PME type 7 due to a pathogenic variant in KCNC1 with myoclonus improvement after epileptic seizures. DISCUSSION: Myoclonus improvement after seizures may be a clue to the diagnosis of Progressive Myoclonic Epilepsy type 7.

Clinical-functional correlation with brain volumetry in severe perinatal asphyxia: a case report.

BACKGROUND: Hypoxic-ischemic encephalopathy (HIE) appears in neurological conditions where some brain areas are likely to be injured, such as deep grey matter, basal ganglia area, and white matter subcortical periventricular áreas. Moreover, modeling these brain areas in a newborn is challenging due to significant variability in the intensities associated with HIE conditions. This paper aims to evaluate functional measurements and 3D machine learning models of a given HIE case by correlating the affected brain areas with the pathophysiology and clinical neurodevelopmental. CASE PRESENTATION: A comprehensive analysis of a term infant with perinatal asphyxia using longitudinal 3D brain information from Machine Learning Models is presented. The clinical analysis revealed the perinatal asphyxia diagnosis with APGAR <5 at 5 and 10 minutes, umbilical arterial pH of 7.0 BE of -21.2 mmol / L), neonatal seizures, and invasive ventilation mechanics. Therapeutic interventions: physical, occupational, and language neurodevelopmental therapies. Epilepsy treatment: vagus nerve stimulation, levetiracetam, and phenobarbital. Furthermore, the 3D analysis showed how the volume decreases due to age, exhibiting an increasing asymmetry between hemispheres. The results of the basal ganglia area showed that thalamus asymmetry, caudate, and putamen increase over time while globus pallidus decreases. CLINICAL OUTCOMES: spastic cerebral palsy, microcephaly, treatment-refractory epilepsy. CONCLUSIONS: Slight changes in the basal ganglia and cerebellum require 3D volumetry for detection, as standard MRI examinations cannot fully reveal their complex shape variations. Quantifying these subtle neurodevelopmental changes helps in understanding their clinical implications. Besides, neurophysiological evaluations can boost neuroplasticity in children with neurological sequelae by stimulating new neuronal connections.

Ictal EEG: Etiology and Mortality in Older Adults With Nonconvulsive Status Epilepticus.

Clinical-electroencephalogram (EEG), as well as etiological and prognostic data on subtypes of nonconvulsive status epilepticus (NCSE) are yet to be established. Objective: Evaluate the clinical semiology and EEG findings and prognostic data of older adults with NCSE. Methodology: Characterize the clinical-EEG and prognostic data in the subtypes of NCSE in older adults consecutively admitted to the emergency room of the Pontifícia Universidade Católica de Campinas (PUC-Campinas) University Hospital. Results: When evaluating 105 older adults with altered consciousness, it was possible to diagnose NCSE in 50 (47.6%) older adults, with a mean age of 72.8 ± 8.8 years. NCSE-coma occurred in 6 cases, with NCSE-without coma in 44 cases. The etiology was structural in 41(82%) cases, metabolic in 5 cases, and unknown etiology in 4 cases. Twelve cases had a history of epileptic seizures. On the EEG, epileptiform discharges (EDs > 2.5 Hz) were present in 34(68%) cases and rhythmic delta activity /lateralized periodic patterns occurred in 35(70%) cases. There was clinical improvement after the initial pharmacological treatment in 36 cases and, within 30 days, 18 cases died. The better prognosis was associated with a good response to initial pharmacological treatment (n = 14) and with EDs > 2.5 Hz on EEG (Fisher's exact test; 26 vs 8; P = .012). Conclusion: Focal NCSE with impaired consciousness was the most frequent subtype. The most frequent finding on the EEG was the recording of focal/regional seizures. A high number of cases showed initial clinical improvement, but mortality was high. The favorable prognosis was associated with initial clinical improvement and the presence of EDs > 2.5 Hz. There was no relationship between EEG patterns and the etiology and subtypes of NCSE in older adults.

[Bilateral central femoral dislocation after seizure. Antiprotrusive ring and dual mobility cup as a therapeutic option. Apropos of a case]. / Luxación bilateral central femoral tras crisis convulsiva. Anillo antiprotrusivo y cotilo de doble movilidad como opción terapéutica. A propósito de un caso.

INTRODUCTION: seizures can trigger fractures and dislocations. Injuries depend on the severity, duration and type of seizure. We present a case report of a male patient who presented with a bilateral central dislocation fracture of the hip following an episode of seizure. A case rarely described in the literature with complex and unusual management. CASE REPORT: a 77-year-old man with a history of moderate cognitive impairment suffered a bilateral central dislocation of the hip in the context of a generalized epileptic seizure. Clinically on arrival at the emergency department, the patient presented shortening of the right lower extremity compared to the contralateral, external rotation and joint locking on log roll test in both extremities. An imaging study and clinical optimization were performed prior to surgery. It was performed in two stages. First the left hip on the 8th day of admission, and the right hip on the 15th. In both surgeries the same procedure was performed, with implantation of an antiprotrusive ring and a double mobility cup prosthesis with an uncemented femoral stem. In the immediate postoperative period, the patient did not present any complications associated with the surgery. At 24-month follow-up, the patient performed full weight bearing with a Harris hip score (HHS) of 77 on the right hip and 79 on the left; 12 points on the WOMAC scale. No postoperative complications have occurred so far. CONCLUSIONS: these injuries are uncommon in our daily practice, where multiple options are available to address them. In our patient, the use of arthroplasty and antiprotrusive rings offers advantages over fracture synthesis techniques, such as early mobilization with moderate functional results and few postoperative complications.

INTRODUCCIÓN: las crisis convulsivas pueden desencadenar fracturas y luxaciones. Las lesiones dependen de la severidad, duración y el tipo de crisis. Presentamos un caso clínico de un varón que presentó una fractura luxación central bilateral de cadera tras episodio de crisis convulsiva. Un caso pocas veces descrito en la literatura con un manejo complejo y poco habitual. CASO CLÍNICO: paciente de 77 años con antecedentes de deterioro cognitivo moderado que sufrió una luxación bilateral central de cadera en contexto de una crisis convulsiva generalizada. Clínicamente, a su llegada a urgencias, el paciente presentaba un acortamiento de la extremidad inferior derecha en comparación con la contralateral, rotación externa y bloqueo articular a la realización del log roll test en ambas extremidades. Se realizó estudio de imagen y optimización clínica previo a cirugía. Se realizó en dos tiempos: primero la cadera izquierda al octavo día de ingreso y la cadera derecha al decimoquinto. En ambas cirugías se realizó el mismo procedimiento mediante implantación de anillo antiprotrusivo y prótesis con cotilo de doble movilidad con vástago femoral no cementado. En el postoperatorio inmediato, el paciente no presentó ninguna complicación asociada a la cirugía. En el seguimiento a los 12 meses, el paciente realiza carga completa con un Harris hip score (HHS) de 77 cadera derecha y 79 en la izquierda; 12 puntos en la escala WOMAC. No ha presentado complicaciones postoperatorias hasta el momento. CONCLUSIONES: estas lesiones son poco comunes en nuestra práctica diaria, donde disponemos de múltiples opciones para abordarlas. En nuestro paciente, el empleo de la artroplastía y de anillos antiprotrusivos nos ofrecen ventajas respecto a las técnicas de síntesis de la fractura, como una movilización precoz y evitar desarrollo prematuro de una artrosis postraumática, con resultados buenos, funcionales y pocas complicaciones postoperatorias.

Long-term seizure outcome and mobility after surgical treatment for Rasmussen encephalitis in children: A single-center experience.

OBJECTIVE: Rasmussen Encephalitis (RE) is a rare inflammatory neurodegenerative disease associated with refractory seizures, hemiparesis, and cognitive deterioration, due to lateralized cortical atrophy. Hemispheric surgery (hemispherotomy) is the mainstay of treatment, but its unavoidable motor deficits and lack of long-term data regarding seizure outcomes can make patients and families apprehensive to undergo this procedure. The present study aimed at analyzing the results of surgical treatment for RE from a motor and epilepsy standpoint, and mitigate such concerns. METHODS: Clinical and operative data were retrospectively collected from medical records of pharmacoresistant patients treated with functional hemispherectomy at a tertiary reference center for epilepsy surgery, during a 24-year period (1996-2020). Variables such as age of epilepsy onset, seizure semiology, seizure frequency, immunomodulatory therapy, age at surgery, duration of epilepsy, surgical procedures and complications, number of medications used preoperatively and postoperatively were described and statistically analyzed. RESULTS: Forty-three (43) patients were included in this study. Mean age of epilepsy onset was 6.14 years, the average interval between epilepsy onset and hemispherotomy was 2.21 years. and the mean age at surgery was 8.28 years. Thirty patients (69.7%) were Engel I at their last follow-up, of whom 23 (56.4%) were Engel Ia, within a mean follow-up of 11.3 years. Duration of epilepsy, seizure frequency, and age at surgery, among others, did not correlate with seizure outcome, except the use of immunotherapy which led to worse outcomes (p < .05). Also, after surgery, motor functionality was significantly recovered (i.e., most patients returned to their previous status) with time. SIGNIFICANCE: This study tackled some issues regarding the surgical treatment of this disease, particularly showing that hemispherotomy is safe and leads to potentially recoverable disability of motor functions while providing high rates of effective and long-lasting seizure control; therefore, early surgical indication should be warranted once medical refractoriness has been established.

Factores asociados a epilepsia farmacorresistente en niños atendidos en un hospital de referencia nacional / Factors associated with drug-resistant epilepsy in children treated at a national referral hospital

Antecedentes: Según la Organización Mundial de la Salud (OMS) cerca de 70 millones de personas en el mundo padecen epilepsia. Los países de medianos y bajos ingresos presentan 70-80% de los casos; se estima que afecta 4-13% de los niños hasta los 16 años, de los cuales la epilepsia farmacorresistente (EFR) se desarrolla en 10-23%. Objetivo: Determinar factores de riesgo asociados a EFR en pacientes pediátricos atendidos en Hospital María, Especialidades Pediátricas (HMEP), Tegucigalpa, marzo 2017-marzo 2022. Métodos: Estudio de casos-controles. A partir del total de pacientes menores de 18 años con diagnóstico de epilepsia atendidos en el Servicio de Neurología HMEP, se definió Caso como pacientes con diagnóstico de EFR y Controles como pacientes con epilepsia no farmacorresistente (ENFR). A partir de expedientes clínicos, se evaluaron factores sociodemográficos, antecedentes personales y familiares, factores clínicos, estudios de imagen y electroencefalograma. El estudio fue aprobado por el Comité de Ética Institucional. Resultados: Se analizaron 81 casos y 162 controles. La edad más afectada en casos fue preescolar (35.8%), en controles fue edad escolar (41.4%). El sexo masculino presentó similar distribución en ambos grupos (51.8% y 51.2%). La procedencia rural fue más frecuente en los casos que en controles (58.0% versus 48.8%). Se identificaron los siguientes factores asociados a EFR: Antecedentes familiares de epilepsia (ORa 2.32, IC95%1.22­4.41, p=0.01), alteración focal en examen físico (ORa 2.23, IC95%1.10­4.55, p=0.02), neurodesarrollo anormal (ORa 2.78, IC95%1.18­6.54, p=0.02). Discusión: El control adecuado de las crisis epilépticas incide directamente en la calidad de vida y sobrevida de los pacientes. La identificación correcta de los niños con epilepsia con los factores asociados identificados en este estudio, que coinciden con lo descrito internacionalmente, permitirá hacer un mejor tamizaje y priorizar la referencia temprana a un neurólogo pediatra contribuyendo a mejorar la calidad de vida de los pacientes...(AU)

In vitro fertilization as an independent risk factor for perinatal complications: Single-center 10 years cohort study.

OBJECTIVES: Assisted Reproductive Technology (ART) has made great strides in the past forty-years, but no medical treatment comes without side effects. Despite several studies reporting high incidences of perinatal complications, the association is inconclusive. Also, the effect of racially and ethnically distinguished Asian population undergoing ART on perinatal outcomes is not well studied. Therefore, this study attempts to compare various perinatal outcome parameters in ART, and spontaneously conceived singleton pregnancies from a single high-volume tertiary care center. METHODS: This is a retrospective cohort study from a single tertiary infertility center, carried out from January 2011 to September 2020. The study included 1,125 IVF conceived babies (AB group) and 7,193 spontaneous conceived babies (SB group). The groups were compared using the Pearson Chi-square test and adjusted odds ratio, calculated using the multivariate analysis. RESULTS: Most of the perinatal complications, such as preterm birth (PTB), early preterm birth, low birth weight (LBW), extremely low birth weight, small for gestational age, large for gestational age babies, neonatal intensive care unit (NICU) admission, need for surfactant, meconium aspiration syndrome, neonatal seizures, intraventricular hemorrhage, hypoxic-ischemic encephalopathy, and patent ductus arteriosus was significantly increased in the AB group when compared to the SB group (p<0.05). In-vitro fertilization (IVF) independently increases the risk of LBW (aOR 2.530; 95% CI 2.194-2.917), PTB (aOR 4.004; 95% CI 3.496-4.587), NICU admission (aOR 2.003; 95% CI 1.610-2.492) and neonatal seizures (aOR 9.805; 95% CI 5.755-16.706).Conclusions: All ART-conceived pregnant patients should receive antenatal counselling regarding perinatal complications and should deliver at a tertiary care center with appropriate NICU support.

Sleep quality and circadian rhythm profile of persons with juvenile myoclonic epilepsy in a tertiary epilepsy center: A case-control study.

PURPOSE: This study evaluated sleep quality, chronotype, and excessive diurnal somnolence in persons with Juvenile Myoclonic Epilepsy (JME) and their possible association with clinical variables. METHODS: This cross-sectional controlled study evaluated 49 consecutive patients (65% females, mean age 27.53 years) with an electroclinical diagnosis of JME and 49 healthy controls (55% females, mean age 28.55 years). The Pittsburgh Sleep Quality Inventory (PSQI) was used to assess sleep quality and the Epworth Sleepiness Scale (ESS) to evaluate excessive daytime sleepiness. The patients' chronotype was evaluated by the Morningness-Eveningness Questionnaire (MEQ). Epilepsy-related factors gathered from the medical chart and personal interview were epilepsy duration, age at onset, frequency of myoclonic (Mcl), generalized tonic-clonic (GTC) and absence (ABS) seizures, pharmacoresponse, and current antiseizure medication (ASM). RESULTS: Persons with JME did not differ from the control group regarding daytime sleepiness (p=0.840); however, the JME group had worse sleep quality (p=0.01) than the controls. Persons with JME presented a more evening chronotype than controls (p = 0.003). The age at onset, epilepsy duration, frequency of Mcl seizure, frequency of GTC seizure, frequency of ABS seizure, and drug response did not predict ESS and MEQ scales. Pharmacoresponsive patients had lower PSQI scores compared with pharmacoresistant patients (p=0.036). CONCLUSION: Persons with JME have worse sleep quality and a more evening chronotype. Notably, pharmacoresistant patients present a worse sleep quality that deserves attention and special care due to the relationship between sleep deprivation and seizure worsening.

Neuropsychiatric phenotypes of anti-NMDAR encephalitis: a prospective study.

BACKGROUND: Patients with anti-N-methyl-d-aspartate (NMDA) receptor encephalitis (ANMDARE) show a wide range of behavioral abnormalities and are often mistaken for primary psychiatric presentations. We aimed to determine the behavioral hallmarks of ANMDARE with the use of systematic neuropsychiatric and cognitive assessments. METHODS: A prospective study was conducted, with 160 patients admitted to the National Institute of Neurology and Neurosurgery of Mexico, who fulfilled criteria for possible autoimmune encephalitis and/or red flags along a time window of seven years. Cerebrospinal fluid (CSF) antibodies against the NR1 subunit of the NMDAR were processed with rat brain immunohistochemistry and cell-based assays with NMDA expressing cells. Systematic cognitive, neuropsychiatric, and functional assessments were conducted before knowing NMDAR antibodies results. A multivariate analysis was used to compare patients with and without definite ANMDARE according to antibodies in CSF. RESULTS: After obtaining the CSF antibodies results in 160 consecutive cases, 100 patients were positive and classified as having definite ANMDARE. The most frequent neuropsychiatric patterns were psychosis (81%), delirium (75%), catatonia (69%), anxiety-depression (65%), and mania (27%). Cognition was significantly impaired. A total of 34% of the patients had a predominantly neuropsychiatric presentation without seizures. After multivariate analysis, the clinical hallmarks of ANMDARE consisted of a catatonia-delirium comorbidity, tonic-clonic seizures, and orolingual dyskinesia. CONCLUSIONS: Our study supports the notion of a neurobehavioral phenotype of ANMDARE characterized by a fluctuating course with psychotic and affective symptoms, catatonic signs, and global cognitive dysfunction, often accompanied by seizures and dyskinesia. The catatonia-delirium comorbidity could be a distinctive neurobehavioral phenotype of ANMDARE.

Clinical profile of tuberous sclerosis complex patients with and without epilepsy: a need for awareness for early diagnosis.

BACKGROUND: Tuberous sclerosis complex (TSC) is a multisystemic disorder. Its clinical features manifest differently in several organs, prompting the need for better knowledge. OBJECTIVE: The goal of the present study is to evaluate the neurological findings of TSC, such as cerebral lesions and epilepsy, and to raise awareness of non-neurological findings that could contribute to an earlier diagnosis and treatment. METHODS: This was a natural history study of patients with a definitive diagnosis of TSC who were referred to a specialized outpatient clinic and followed-up for 2 years with clinical and radiological exams. RESULTS: A total of 130 TSC patients (59 males [45.4%], mean age 20.4 years old [1 to 56 years old]); 107 patients (82.3%) were diagnosed with epilepsy. Seizures predominantly began at < 1 year old (72.8%); focal seizures predominated (86.9%); epileptic spasms occurred in 34.5% of patients, and refractory epilepsy was present in 55.1%. Neuropsychiatric disorders, cortical tubers and cerebellar tubers were significantly more frequent in the epilepsy group. Moreover, rhabdomyomas were significantly more frequent in the epilepsy group (p = 0.044), while lymphangioleiomyomatosis was significantly less frequent in the epilepsy group (p = 0.009). Other non-neurological findings did not differ significantly between the groups with and without epilepsy. CONCLUSIONS: The present study of TSC patients demonstrated the predominantly neurological involvement and significantly higher proportion of TSC-associated neuropsychiatric disorders in the epilepsy group. Higher proportions of cortical and cerebellar tubers may be a risk factor for epilepsy and neurodevelopmental disorders.

ANTECEDENTES: O Complexo da esclerose tuberosa (CET) é uma doença multissistêmica. As apresentações clínicas em diferentes órgãos são diversas, necessitando um maior conhecimento da doença. OBJETIVO: O objetivo do presente estudo foi avaliar na CET o envolvimento neurológico, como lesões cerebrais e epilepsia, e chamar a atenção para achados não neurológicos que contribuiriam para o diagnóstico e tratamento precoces. MéTODOS: Estudo de história natural do CET em pacientes com critérios diagnósticos definidos encaminhados aleatoriamente para serviço especializado e que foram acompanhados, durante 2 anos, com exames clínicos e radiológicos. RESULTADOS: O total de 130 pacientes (59 do sexo masculino [45.4%]), idade média de 20,4 anos [1 a 56 anos]) foram avaliados; 107 pacientes (82.3%) foram diagnosticados com epilepsia. As crises epilépticas se iniciaram especialmente em pacientes < 1 ano de idade (72,8%); predomínio de crise focal (86,9%); ocorrência de espasmos infantis em 34,5% deles e de epilepsia refratária em 55,1%. A frequência de distúrbios neuropsiquiátricos, túberes corticais e túberes cerebelares foi significativamente mais frequente no grupo com epilepsia. Além disso, rabdomioma foi significativamente mais frequente no grupo com epilepsia (p = 0,044), enquanto a linfoangioleiomiomatose foi significativamente menos frequente (p = 0,009). Outros comprometimentos não neurológicos, como os oftalmológicos e os nefrológicos, não diferiram significativamente nos grupos com e sem epilepsia. CONCLUSõES: O presente estudo com pacientes com CET com e sem epilepsia pode demonstrar uma maior proporção significativa de transtornos neuropsiquiátricos associados ao CET no grupo com epilepsia. A maior proporção de túberes corticais e cerebelares parecem ser um fator de risco para epilepsia e para o comprometimento do neurodesenvolvimento.

Characteristics associated with drug resistant epilepsy in children up to 36 months old with Congenital Zika Syndrome.

OBJECTIVES: To verify characteristics associated with drug resistant epilepsy in children up to 36 months of age with Congenital Zika Syndrome (CZS). METHODS: This is a prospective cohort study with children aged up to 36 months diagnosed with CZS. Obstetric, demographic, phenotype and other clinical signs, cranial tomography, growth and motor development of the children were collected. RESULTS: Of a total of 109 children diagnosed with CZS, 100 (91.7%) had epilepsy and 68 (68%) with drug resistant seizures. The types of seizures associated with drug resistant epilepsy were focal seizures from the occipital lobe, generalized tonic and generalized tonic-clonic seizures. There was an association between drug resistant epilepsy and microcephaly at birth, severe microcephaly at birth, excess nuchal skin, ventriculomegaly, reduced brain parenchyma volume, and hypoplasia or malformation of the cerebellum. Difficulty sleeping, irritability, continuous crying, dysphagia and gross motor function were clinical signs associated with drug resistant epilepsy, as were the presence of ocular abnormalities, low head circumference in the first year of life and low weight in the first six months. CONCLUSIONS: The prevalence of drug resistant epilepsy in children up to 36 months with CZS was 62.4% and was associated with the severity of the child's neurological damage, with emphasis on the reduction of brain parenchyma volume and damage to the cerebellum.

Common infectious and parasitic diseases as a cause of seizures: geographic distribution and contribution to the burden of epilepsy

This educational review article aims to provide information on the central nervous system (CNS) infectious and parasitic diseases that frequently cause seizures and acquired epilepsy in the developing world. We explain the difficulties in defining acute symptomatic seizures, which are common in patients with meningitis, viral encephalitis, malaria, and neurocysticercosis, most of which are associated with increased mortality and morbidity, including subsequent epilepsy. Geographic location determines the common causes of infectious and parasitic diseases in a particular region. Management issues encompass prompt treatment of acute symptomatic seizures and the underlying CNS infection, correction of associated predisposing factors, and decisions regarding the appropriate choice and duration of antiseizure therapy. Although healthcare provider education, to recognize and diagnose seizures and epilepsy related to these diseases, is a feasible objective to save lives, prevention of CNS infections and infestations is the only definitive way forward to reduce the burden of epilepsy in developing countries.

I would be better off dead: investigating suicidal ideation in people with epilepsy.

BACKGROUND: It is known that the risk of suicidal behavior in adult people with epilepsy (PWEs) is high. However, the associated clinical and psychosocial factors are still being discussed. OBJECTIVE: To assess the risk of suicide in PWEs and relate it to resilience and quality of life (QoL) as well as with clinical variables. METHODS: The item "I'd be better off dead" of the Neurological Disorders Depression Inventory for Epilepsy (NDDI-E) was related to the resilience scale, clinical aspects, the presence of depression, and the Quality of Life in Epilepsy Inventory (QOLIE-31) scores of PWEs, with a p < 0.05. RESULTS: A total of 271 PWEs were assessed, 50.6% were female, with a mean age of 46.6 (± 15.8) years, and a mean age at 1st seizure of 24.1 (± 18.5) years. Risk for suicide occurred in 50 (19.3%) cases. In multiple logistic regression, the factors that explain the risk of suicide were female sex, depression, and lower scores on the QOLIE-31 and on the resilience scale. In the classification and regression trees, the order of importance of the variables was depression > resilience > age > QoL > age at 1st seizure. CONCLUSION: The risk of suicide was high, and it was associated with demographic aspects, clinical variables, QoL, and resilience. A higher risk of suicide was associated with lower resilience regardless of the presence or absence of depression. In the presence of depression, a higher risk of suicide was associated with the early onset of epilepsy. In the absence of depression, the risk of suicide was associated with low QoL in young adults.

ANTECEDENTES: É sabido que o risco de comportamento suicida é elevado em pessoas adultas com epilepsia (PCEs); entretanto, ainda são discutidos quais são os fatores clínicos e psicossociais associados. OBJETIVO: Avaliar o risco de suicídio em PCEs e relacioná-lo com a resiliência e a qualidade de vida (QV) e com as variáveis clínicas. MéTODOS: Foi relacionado o item ­ "Eu preferiria estar morto" do inventário de depressão em transtornos neurológicos para a epilepsia (IDTN-E) com a escala de resiliência, os aspectos clínicos, a presença de depressão e com o inventário de qualidade de vida na epilepsia (QOLIE-31) de PCEs, com p < 0.05. RESULTADOS: Foram avaliados 271 PCEs, 50.6% dos quais eram do sexo feminino. A idade média foi de 46.6 (± 15.8) anos, e idade na 1ª crise 24.1 (± 18.5) anos. O risco de suicídio ocorreu em 50 (19.3%) casos. Na regressão logística múltipla, os fatores que explicaram o maior risco de suicídio foram o sexo feminino, a depressão, e os menores escores no QOLIE­31 e na escala de resiliência. Na árvore de classificação e regressão, a ordem de importância das variáveis foi depressão > resiliência > idade > QV > idade na 1ª crise. CONCLUSãO: O risco de suicídio foi elevado e associou-se com aspectos demográficos, variáveis clínicas, a QV e a resiliência. O maior risco de suicídio associou-se à menor resiliência, independente da presença de depressão. Na presença de depressão, o maior risco de suicídio associou-se ao início precoce da epilepsia. Na ausência de depressão, o risco de suicídio associou-se à baixa QV em adultos jovens.

Epileptic seizures during Non-Ketotic Hyperglycemia (NKH) in French Guiana: A retrospective study.

Introduction: Epileptic seizures during non-ketotic hyperglycemia (NKH) represent a rare complication of uncontrolled diabetes mellitus. The definition associates a blood sugar level > 200mg/dL (11mmol/L), hyperosmolality, absence of ketosis, dehydration and seizure control after normalization of blood sugar levels. Material and methods: This retrospective observational study included patients hospitalized for epileptic seizures and NKH in the Cayenne Hospital Center between January 2010 and June 2020. The clinical, biological, and radiological results were collected. Results: 18 out of 228 (7.9%) patients with both diabetes and epileptic seizures had NKH. The mean age of the 12 women and 6 men was 64.8 years. In 8 patients, brain imaging did not show acute lesions and the seizures disappeared with control of hyperglycemia by hydration and insulin. In 6 patients, the seizures revealed a stroke, hemorrhagic in 4 cases, ischemic in 2 cases. 4 patients had a seizure in a context of known vascular epilepsy. The epileptic seizures were mainly focal seizures with motor symptoms that could be repeated, focal to bilateral tonic-clonic or focal status. Conclusion: Seizures in NKH are symptomatic of an acute brain lesion or vascular epilepsy more than 1 in 2 times. However, isolated NKH can cause seizures with a suggestive brain MRI.

Status epilepticus: review on diagnosis, monitoring and treatment.

Status epilepticus (SE) is a frequent neurological emergency associated with high morbidity and mortality. According to the new ILAE 2015 definition, SE results either from the failure of the mechanisms responsible for seizure termination or initiation, leading to abnormally prolonged seizures. The definition has different time points for convulsive, focal and absence SE. Time is brain. There are changes in synaptic receptors leading to a more proconvulsant state and increased risk of brain lesion and sequelae with long duration. Management of SE must include three pillars: stop seizures, stabilize patients to avoid secondary lesions and treat underlying causes. Convulsive SE is defined after 5 minutes and is a major emergency. Benzodiazepines are the initial treatment, and should be given fast and an adequate dose. Phenytoin/fosphenytoin, levetiracetam and valproic acid are evidence choices for second line treatment. If SE persists, anesthetic drugs are probably the best option for third line treatment, despite lack of evidence. Midazolam is usually the best initial choice and barbiturates should be considered for refractory cases. Nonconvulsive status epilepticus has a similar initial approach, with benzodiazepines and second line intravenous (IV) agents, but after that, aggressiveness should be balanced considering risk of lesion due to seizures and medical complications caused by aggressive treatment. Usually, the best approach is the use of sequential IV antiepileptic drugs (oral/tube are options if IV options are not available). EEG monitoring is crucial for diagnosis of nonconvulsive SE, after initial control of convulsive SE and treatment control. Institutional protocols are advised to improve care.

Megalencephalic leukoencephalopathy with subcortical cysts: the importance of early diagnosis.

BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts is a rare type of leukodystrophy associated with mutations in the MLC1 and GlialCAM genes. The classic form is characterized by macrocephaly, early or delayed normal neurodevelopment followed by a period of slow motor skill loss, with cerebellar ataxia and spasticity; some patients develop movement disorders and seizures. Magnetic resonance imaging shows widespread diffuse white matter involvement with edema and subcortical cysts. CASE REPORT: We describe the case of two sisters aged 6 and 10 years, consanguineous parents, with a history of psychomotor delay and macrocephaly. The older sister presented with seizures at the age of 4 years and spasticity without loss of gait; the younger sister had a similar clinical picture. Magnetic resonance imaging showed diffuse alteration of the white matter and subcortical cysts in the temporal lobes. Electroencephalogram detected focal epileptiform activity. Seizure control was achieved upon initiation of carbamazepine treatment. By sequencing, a homozygous variant of the MLC1 gene was found in exon 3: c.255T>G (p.Cys85Trp). CONCLUSIONS: Leukodystrophies are rare diseases that represent a diagnostic challenge. Clinical, radiological, and molecular findings allow diagnostic certainty, the appropriate direction of interventions, and adjustment to the prognosis of each entity. The c.255T>G mutation was previously described in a South American patients, suggesting that it is a specific variant to Latin populations.

INTRODUCCIÓN: La leucoencefalopatía megalencefálica con quistes subcorticales es una leucodistrofia poco frecuente, asociada con mutaciones en los genes MLC1 y GlialCAM. La forma clásica se caracteriza por macrocefalia, neurodesarrollo temprano normal o con retraso seguido por un periodo de pérdida lenta de habilidades motoras, con ataxia cerebelosa y espasticidad; algunos pacientes desarrollan trastornos del movimiento y crisis convulsivas. La resonancia magnética muestra afección difusa generalizada de la sustancia blanca con edema y quistes subcorticales. CASO CLÍNICO: Se presenta el caso de dos hermanas de 6 y 10 años con historia de retraso psicomotor y macrocefalia, hijas de padres consanguíneos. La mayor inició con crisis convulsivas a los 4 años y espasticidad sin pérdida de la marcha autónoma; la menor presentó un cuadro clínico similar. La resonancia magnética mostró una alteración difusa de la sustancia blanca y quistes subcorticales en los lóbulos temporales. El electroencefalograma detectó actividad epileptiforme focal. Se logró el control de las crisis convulsivas al iniciar el tratamiento con carbamazepina. Por secuenciación, se encontró una variante homocigota del gen MLC1 en el exón 3: c.255T>G (p.Cys85Trp). CONCLUSIONES: Las leucodistrofias son enfermedades raras que representan un desafío para su diagnóstico. Los hallazgos clínicos, radiológicos y moleculares permiten la certeza del diagnóstico, la dirección adecuada de las intervenciones y el ajuste al pronóstico de cada una. La mutación c.255T>G fue descrita previamente en pacientes sudamericanos, lo que sugiere que podría tratarse de una variante específica de poblaciones latinas.

Distinct Epileptogenic Mechanisms Associated with Seizures in Wolf-Hirschhorn Syndrome.

Seizures are one of the clinical hallmarks of Wolf-Hirschhorn syndrome (WHS), causing a significant impact on the life quality, still in the first years of life. Even that the knowledge about WHS-related seizure candidate genes has grown, cumulative evidence suggests synergic haploinsufficiency of distinct genes within cellular networks that should be better elucidated. Herein, we evaluated common mechanisms between candidate genes from WHS seizure-susceptibility regions (SSR) and genes globally associated with epilepsy. For this purpose, data from 94 WHS patients delineated by chromosomal microarray analysis were integrated into a tissue-specific gene network with gene expression, drugs, and biological processes. We found functional modules and signaling pathways involving candidate and new genes with potential involvement in the WHS-related seizure phenotype. The proximity among the previous reported haploinsufficient candidate genes (PIGG, CPLX1, CTBP1, LETM1) and disease genes associated with epilepsy suggests not just one, but different impaired mechanisms in cellular networks responsible for the balance of neuronal activity in WHS patients, from which neuron communication is the most impaired in WHS-related seizures. Furthermore, CTBP1 obtained the largest number of drug associations, reinforcing its importance for adaptations of brain circuits and its putative use as a pharmacological target for treating seizures/epilepsy in patients with WHS.

Panayiotopoulos syndrome: Unusual clinical manifestations.

PURPOSE: We retrospectively analyzed the electroclinical features, treatment, and outcome of patients with Panayiotopoulos syndrome (PS) who presented with unusual clinical manifestations. METHOD: A retrospective, descriptive, multicenter study was conducted evaluating 44 patients with PS who had seizures with an unusual semiology. Data from patients with PS seen at eight Argentine centers between April 2000 and April 2019 were collected. RESULTS: Twelve patients (29.2%) had ictal syncope or syncope-like epileptic seizures. Three children (7.3%) had recurrent episodes of vomiting. Four patients (9.7%) presented with urinary incontinence associated with autonomic signs and consciousness impairment. One child had hiccups with autonomic manifestations followed by eye deviation. One boy had episodes of laughter with autonomic symptoms followed by loss of consciousness. Six patients (14.6%) had hyperthermia without acute febrile illness with autonomic symptoms as the first manifestation. Six others (14.6%) had focal motor seizures characterized by eye and head deviation in four and eyelid blinking in two. Four patients (9.7%) had ictal headache as the initial manifestation followed by nausea and vomiting. Two children (4.8%) had their first seizure while asleep associated with cardiorespiratory arrest. Two children (4.8%) had oral automatisms, such as sucking and chewing. In two children (4.8%) coughing was the initial manifestation followed by emetic symptoms. One patient (2.3%) had vertigo with a sensation of fear, with eye deviation and unresponsiveness. One child started with continuous spikes and waves during slow sleep, behavior disturbances, and emetic symptoms. CONCLUSION: In this study, evidence of the existence of unusual clinical cases of PS with typical EEG patterns was found. Outcome was excellent.

[Bilateral posterior glenohumeral fracture-dislocation secondary to a seizure episode: the importance of early diagnosis. A case review]. / Luxofractura posterior bilateral de hombro secundaria a episodio de convulsión: importancia del diagnóstico oportuno. A propósito de un caso.

INTRODUCTION: posterior glenohumeral fracture dislocation (PGHFD) is a rare injury. It may present secondary to a seizure, electrocution or due to direct trauma. It is usually missed, and late diagnosis is common which increases the rate of complications and sequalae. CASE REPORT: 52 year old male, transferred to a reference trauma center due to a tonic-clonic seizure and a right PGHFD. Upon admission radiographs are requested and right shoulder injury is confirmed. Additionally, a simple left posterior glenohumeral dislocation (that was missed in the initial assessment of the patient) is observed. A computed tomography (CT) scan is obtained for both shoulders to plan surgery. The CT scan showed a bilateral PGHFD with severe comminution in the left shoulder, showing considerable worsening of the left shoulder since admission. Open reduction and bilateral locked plate osteosynthesis were performed in a one stage surgery. At two years follow up the patient evolved favorably with a Quick DASH score of 5% and a CONSTANT score of 72 and 76 for his right and left shoulder, respectively. CONCLUSION: PGHFD is an infrequent injury, which requires a high level of suspicion to avoid diagnostic delay and prevent complications and sequelae. Bilateral cases may be seen in cases of seizure. With prompt surgical treatment, satisfactory results can be achieved with a complete return to normal activities.

INTRODUCCIÓN: la luxofractura glenohumeral posterior (LFGHP) es una lesión poco frecuente. Puede ser secundaria a una crisis convulsiva, casos de electrocución, o por traumatismo directo. Su diagnóstico suele ser tardío, lo que aumenta la tasa de complicaciones y secuelas. CASO CLÍNICO: paciente de sexo masculino de 52 años, trasladado a centro de alta complejidad por convulsión tónico-clónica y LFGHP derecha. En el estudio inicial con radiografías se confirma lesión de hombro derecho y se diagnostica luxación glenohumeral posterior simple de hombro izquierdo no pesquisada previamente. Se complementa estudio con tomografía computarizada (TC) de ambos hombros, observándose una LFGHP bilateral, lo que demuestra agravamiento intrahospitalario de la lesión del hombro izquierdo. Se realiza reducción abierta y osteosíntesis con placa bloqueada bilateral en un tiempo. El hombro izquierdo requirió dos reintervenciones, una por falla de osteosíntesis y otra para liberación articular. Dos años después del procedimiento el paciente evoluciona satisfactoriamente con 5% en la escala Quick DASH y un puntaje de 72 y 76 en la escala de Constant en el hombro derecho e izquierdo, respectivamente. CONCLUSIÓN: la LFGHP es una lesión poco frecuente que requiere un alto índice de sospecha para evitar el retraso diagnóstico y la aparición de secuelas. En casos de convulsión se debe sospechar compromiso bilateral. Con un tratamiento quirúrgico oportuno se pueden obtener resultados satisfactorios y reintegración del paciente a sus actividades habituales.

Self-limited epilepsy of childhood with affective seizures: A well-defined epileptic syndrome?

OBJECTIVE: Here we present cases of focal epilepsy with affective symptoms analyzing seizure characteristics, EEG pattern, treatment, and outcome. METHODS: A multicenter, descriptive, retrospective study was conducted evaluating 18 patients with self-limited epilepsy who presented with seizures with affective symptoms seen between April 2000 and April 2018 at eight Argentinian centers. RESULTS: Eighteen patients had focal seizures with affective symptoms; all of them had affective symptoms characterized by sudden fright or terror and screaming. Seizures started with manifestations of sudden fright or terror manifested by a facial expression of fear; consciousness was mildly impaired in 15/18 patients. Eleven of the patients also had autonomic manifestations, such as pallor, sweating, and abdominal pain. In addition, four of these 11 patients had ictus emeticus and one also presented with unilateral deviation of the eyes and head. Speech arrest, salivation, glottal noises, and chewing or swallowing movements were observed in 2/18 patients at the onset of the affective seizures. Two others also had mild asymmetric dystonic seizures involving both hands and arms. Three patients had tonic deviation of the mouth involving the lips and tongue as well pharyngeal and laryngeal muscles, resulting in anarthria and drooling. Two patients had brief hemifacial focal clonic seizures. CONCLUSION: Affective manifestations associated or not with motor and/or autonomic manifestations and associated with typical EEG features of the idiopathic focal epilepsies of childhood is a particular presentation of self-limited focal epilepsy in childhood.