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1.
Rev. bras. neurol ; 57(4): 23-30, out.-dez. 2021. ilus
Article in English | LILACS | ID: biblio-1359223

ABSTRACT

There is a close association between sleep and epilepsy, and this literature review aims to raise issues regarding sleep time control, circadian and ultradian rhythms, epilepsy and its interaction with sleep and circadian rhythm, epilepsy and sleep disorders, and finally epilepsy management and medications. It is mentioned that sleep may provide a hypersynchronous state, as occurs in non-rapid eye movement sleep (NREM), and hyperexcitability, in cyclic alternating pattern (CAP), allowing more frequent interictal epileptiform abnormalities and seizures. In some epilepsy syndromes, seizures occur broadly / or entirely during sleep or on awakening, mainly in childhood, and maybe exacerbated in adults during the sleep or sleep-deprived, and there are the so-called Sleep-related epilepsies that are divided as sleep-associated, sleep-accentuated and arousal/awakening related. Sleep quality may be reduced in patients with epilepsy also due to nocturnal seizures or concomitant sleep disorders. Sleep disorders are common in patients with epilepsy and treatment of them mainly sleep-disordered breathing may improve seizure control. Besides, some parasomnias may mimic seizures, and also they can adversely affect the quality and quantity of sleep whereas antiepileptic therapy can have a negative or positive effect on sleep. Nocturnal epileptic seizures may be challenging to discern from parasomnias, in particular NREM parasomnias such as night terrors, sleepwalking and confusional arousals.


Há uma estreita associação entre sono e epilepsia, e esta revisão de literatura tem como objetivo levantar questões relacionadas ao controle do tempo do sono, ritmos circadianos e ultradianos, epilepsia e sua interação com sono e ritmo circadiano, epilepsia e transtornos do sono e, finalmente, o tratamento e medicamentos para epilepsia. Menciona-se que o sono pode proporcionar um estado hipersincrônico, como ocorre no sono "non-rapid eye movement" (NREM), e hiperexcitabilidade, no "cyclic alternating pattern" (CAP), permitindo anormalidades epileptiformes interictais e crises epilépticas mais frequentes. Em algumas síndromes epilépticas, as crises ocorrem ampla / ou inteiramente durante o sono ou despertar, principalmente na infância, e podem ser exacerbadas em adultos durante o sono ou privação de sono, e as chamadas epilepsias relacionadas ao sono se dividem em sono associadas, sono acentuadas e relacionadas com o despertar. A qualidade do sono pode ser reduzida em pacientes com epilepsia também devido a crises epilépticas noturnas ou transtornos do sono concomitantes. Esses são comuns em pacientes com epilepsia e o seu tratamento, principalmente dos transtornos respiratórios do sono, pode melhorar o controle das crises epilépticas. Além disso, algumas parassonias podem mimetizar crises epilépticas, e também elas podem afetar adversamente a qualidade e a quantidade do sono, enquanto a terapia antiepiléptica pode ter um efeito negativo ou positivo sobre o sono. Pode ser difícil discernir as crises epilépticas noturnas das parassonias, em particular das parassonias NREM, como terrores noturnos, crises de sonambulismo e despertares confusionais.


Subject(s)
Humans , Child , Adult , Sleep Deprivation , Sleep Wake Disorders/etiology , Epilepsy/complications , Epilepsy/diagnosis , Seizures/etiology , Sleep Wake Disorders/complications , Circadian Rhythm , Epilepsy/drug therapy
2.
Rev. bras. neurol ; 57(4): 31-39, out.-dez. 2021. tab, ilus
Article in English | LILACS | ID: biblio-1359225

ABSTRACT

There is a known relationship between seizures and sleep deprivation that increases epileptiform abnormalities and slow waves expressed in the EEG, but chronic insomnia, greater in patients with epilepsy (PWEs) than in healthy control, supposedly has a different mechanism linked to a hyperarousability state with increased rapid EEG activity and associated "restless REM". Therefore, there is a complex interaction at various levels between insomnia and epilepsy that may play a role in seizure presentation. The recognized interconnection between mood and anxiety disorders and insomnia should also advise special care in the management of psychiatric comorbidities in PWEs. This article raises questions related to the interaction between the brain basis of insomnia and epilepsy and the triggers of seizures, particularly sleep deprivation.


Há uma relação conhecida entre crises epilépticas e privação de sono que aumenta as anormalidades epileptiformes e as ondas lentas expressas no EEG, mas a insônia crônica, maior em pacientes com epilepsia (PCE) do que no controle saudável, supostamente tem um mecanismo diferente ligado a um estado de hiperexcitabilidade com aumento da atividade rápida do EEG e associado "REM inquieto". Consequentemente, existe uma complexa interação em vários níveis entre a insônia e a epilepsia que pode desempenhar um papel na apresentação das crises. A reconhecida interligação entre transtornos de humor e ansiedade com a insônia também deve aconselhar um cuidado especial no manejo das comorbidades psiquiátricas do PCE. Este artigo levanta questões relacionadas à interação entre a base cerebral da insônia e da epilepsia e os desencadeadores de crises epilépticas, principalmente a privação do sono.


Subject(s)
Humans , Adult , Sleep Deprivation , Epilepsy/complications , Epilepsy/diagnosis , Sleep Initiation and Maintenance Disorders/physiopathology , Sleep Initiation and Maintenance Disorders/epidemiology , Seizures/etiology , Sleep Wake Disorders , Prevalence , Risk Factors , Sleep Initiation and Maintenance Disorders/etiology , Mental Disorders
3.
Rev. cuba. ortop. traumatol ; 35(1): e347, 2021. ilus
Article in Spanish | LILACS, CUMED | ID: biblio-1289553

ABSTRACT

Introducción: Las convulsiones pueden producir una tensión muscular significativa capaz de fracturar el hueso. Se halló que el aumento significativo en la incidencia de fracturas se encuentra dentro del grupo de edad entre 45 a 64 años, lo que demuestra que los epilépticos no solo son más vulnerables a las fracturas, sino que tienen un comienzo de fractura más precoz. Las medidas de prevención comprenden suplementos de calcio, vitamina D, densitometría ósea y tratamiento con bifosfonatos, que deben reforzarse en pacientes con epilepsia que tienen riesgo de osteoporosis. Objetivo: Presentar casos de fracturas extracapsular e intracapsular de la cadera por convulsiones epilépticas, atendidos en el hospital Víctor Lazarte Echegaray, Trujillo, Perú, en el periodo comprendido entre 2013 y 2019. Presentación de los casos: Se reporta dos casos de fractura de cadera por convulsiones epilépticas, uno con fractura del acetábulo e iliaco izquierdo y otro a nivel del cuello femoral y subtrocantérica. Conclusiones: Las personas con convulsiones epilépticas poseen un mayor peligro de fracturas, por consiguiente se recomienda a los médicos que maximicen su conciencia sobre las fracturas relacionadas a convulsiones, en especial a pacientes con dolor postictal, debido a que los síntomas pueden ser inespecíficos y una mala interpretación puede impedir la rehabilitación(AU)


Introduction: Seizures can produce significant muscle tension capable of fracturing the bone. The significant increase in the incidence of fractures was found to be within the age group between 45 and 64 years, which shows that epileptics are not only more vulnerable to fractures, but also have earlier fracture onset. Prevention measures include calcium supplements, vitamin D, bone densitometry, and bisphosphonate treatment that should be reinforced in patients with epilepsy who are at risk for osteoporosis. Objective: To present cases of hip fractures due to epileptic seizures, treated at Víctor Lazarte Echegaray Hospital, Trujillo, Peru, from 2013 to 2019. Case report: Cases of hip fracture due to epileptic seizures have been reported, one with fracture of the acetabulum and left iliac and another at the level of the femoral and subtrochanteric neck. Conclusions: Individuals with epileptic seizures have greater risk of fractures, it is recommended that physicians maximize their awareness of seizure-related fractures, especially in patients with postictal pain, since the symptoms can be nonspecific and misinterpretation can prevent rehabilitation(AU)


Subject(s)
Humans , Adult , Middle Aged , Seizures/etiology , Hip Fractures/surgery , Hip Fractures/complications , Peru , Arthroplasty/methods , Acetabulum/surgery
4.
Arq. neuropsiquiatr ; 78(7): 424-429, July 2020. tab, graf
Article in English | LILACS | ID: biblio-1131727

ABSTRACT

ABSTRACT Objective: Ubiquitin C-terminal Hydrolase-L1 (UCH-L1) enzyme levels were investigated in patients with epilepsy, epileptic seizure, remission period, and healthy individuals. Methods: Three main groups were evaluated, including epileptic seizure, patients with epilepsy in the non-seizure period, and healthy volunteers. The patients having a seizure in the Emergency department or brought by a postictal confusion were included in the epileptic attack group. The patients having a seizure attack or presenting to the Neurology outpatient department for follow up were included in the non-seizure (remission period) group. Results: The UCH-L1 enzyme levels of 160 patients with epilepsy (80 patients with epileptic attack and 80 patients with epilepsy in the non-seizure period) and 100 healthy volunteers were compared. Whereas the UCH-L1 enzyme levels were 8.30 (IQR=6.57‒11.40) ng/mL in all patients with epilepsy, they were detected as 3.90 (IQR=3.31‒7.22) ng/mL in healthy volunteers, and significantly increased in numbers for those with epilepsy (p<0.001). However, whereas the UCH-L1 levels were 8.50 (IQR=6.93‒11.16) ng/mL in the patients with epileptic seizures, they were 8.10 (IQR=6.22‒11.93) ng/mL in the non-seizure period, and no significant difference was detected (p=0.6123). When the UCH-L1 cut-off value was taken as 4.34 mg/mL in Receiver Operating Characteristic (ROC) Curve analysis, the sensitivity and specificity detected were 93.75 and 66.00%, respectively (AUG=0.801; p<0.0001; 95%CI 0.747‒0.848) for patients with epilepsy. Conclusion: Even though UCH-L1 levels significantly increased more in patients with epilepsy than in healthy individuals, there was no difference between epileptic seizure and non-seizure periods.


RESUMO Objetivo: Níveis da enzima ubiquitina C-terminal hidrolase-L1 (UCH-L1) foram investigados em pacientes com epilepsia, crise epiléptica, período de remissão e indivíduos saudáveis. Método: Foram avaliados três grupos principais, incluindo crise epiléptica, epilepsia no período não convulsivo e voluntários saudáveis. Pacientes com convulsão no departamento de emergência ou trazidos por confusão pós-ictal foram incluídos no grupo de crise epiléptica. Os pacientes que tiveram crise epiléptica ou foram ao ambulatório de Neurologia para acompanhamento foram incluídos no grupo não convulsivo (período de remissão). Resultados: Os níveis da enzima UCH-L1 de 160 pacientes com epilepsia (80 pacientes com crise epiléptica e 80 pacientes com epilepsia no período não convulsivo) e 100 voluntários saudáveis foram comparados. Enquanto os níveis da enzima UCH-L1 foram 8,30 (IQR=6,57‒11,40) ng/mL em todos os pacientes com epilepsia, os níveis detectados foram de 3,90 (IQR=3,31‒7,22) ng/mL em voluntários saudáveis e aumentaram significativamente na epilepsia (p<0,001). No entanto, ao passo que os níveis de UCH-L1 foram 8,50 (IQR=6,93‒11,16) ng/mL nos pacientes com crise epiléptica, foram 8,10 (IQR=6,22‒11,93) ng/mL no período não convulsivo, e nenhuma diferença significativa foi detectada (p=0,6123). Quando o valor de corte de UCH-L1 foi considerado 4,34 mg/mL com base na análise da curva ROC, sensibilidade e especificidade foram detectadas como 93,75 e 66,00%, respectivamente (AUG=0,801; p<0,0001; IC95% 0,747‒0,848) para os pacientes com epilepsia. Conclusão: Embora os níveis de UCH-L1 tenham aumentado significativamente nos pacientes com epilepsia em relação aos indivíduos saudáveis, não foi observada diferença entre crise epiléptica e períodos não convulsivos.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Seizures/etiology , Ubiquitin Thiolesterase/blood , Epilepsy/diagnosis , Seizures/blood , Biomarkers/blood , Case-Control Studies , ROC Curve , Sensitivity and Specificity , Epilepsy/blood
5.
Rev. chil. pediatr ; 91(2): 260-264, abr. 2020. tab
Article in Spanish | LILACS | ID: biblio-1098901

ABSTRACT

Resumen: Introducción: La deficiencia del transportador de glucosa tipo 1 constituye un síndrome (SD-GLUT1), provocado por la mutación del gen SLC2A1, que codifica la proteína transportadora de glucosa al encéfalo. Las manifestaciones neurológicas se dan en tres dominios principales: crisis epilépticas, movimientos anormales y alteraciones cognitivas. El diagnóstico se presume ante el hallazgo de hipoglucorraquia y se confirma mediante el análisis molecular del gen. La importancia de precisarlo radica en que tiene tratamiento específico, la dieta cetogénica. Objetivo: Analizar dos casos clínicos de SD-GLUT1 de presentación atípica, destacando la variabilidad del fenotipo. Caso Clínico: Presentamos el caso de dos hermanos cuyas manifestaciones fueron crisis epilépticas de tipo ausencias típicas, y un trastorno paroxístico del movimiento. Los pacientes fueron estudiados encontrándose hipoglucorraquia en ambos y se confirmó diagnóstico de SD-GLUT1 con estudio molecular. El tratamiento específico con dieta cetogénica logró buena respuesta. Conclusiones: Exponemos sus características clínicas peculiares que nos permitieron sospechar este cuadro, de espectro fenotípico amplio, cuyo diagnós tico y tratamiento, correcto y oportuno, puede mejorar significativamente la calidad de vida de los afectados.


Abstract: Introduction: Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS) is caused by the SLC2A1 gene muta tion, which encodes the glucose transporter proteins to the brain Neurological manifestations occur in three main domains: seizures, abnormal movements, and cognitive disorders. The diagnosis is presumed upon the finding of low CSF glucose and confirmed by the gene molecular analysis. Ac curate diagnosis is important because it has a specific treatment, which is ketogenic diet. Objective: To analyze two SD-GLUT1 pediatric patients with unusual phenotype. Clinical Case: We present the case of two siblings who presented absence seizures and a paroxysmal movement disorder. Both patients were studied, finding low CSF glucose. The diagnosis of GLUT1-DS was confirmed with molecular analysis. Specific treatment with ketogenic diet achieved good response in both cases. Con clusions: We present their peculiar clinical characteristics that allowed us to suspect this wide phe notypic spectrum. Correct and timely diagnosis and treatment can significantly improve the quality of life of those affected.


Subject(s)
Humans , Male , Female , Child, Preschool , Phenotype , Seizures/etiology , Monosaccharide Transport Proteins/deficiency , Carbohydrate Metabolism, Inborn Errors/diagnosis , Movement Disorders/etiology , Carbohydrate Metabolism, Inborn Errors/complications
6.
Arq. neuropsiquiatr ; 77(11): 797-805, Nov. 2019. tab, graf
Article in English | LILACS | ID: biblio-1055187

ABSTRACT

ABSTRACT Drug-resistant epilepsy associated with central nervous system tumors is generally caused by low grade gliomas. This group of tumors is usually found in brain eloquent areas, such as the insular lobe, rolandic cortex and supplementary motor area and, historically, possess a greater risk of postoperative deficits. Objective: The aim of this investigation was to present our surgical experience on patients with drug-resistant epilepsy caused by gliomas in eloquent areas. We retrospectively investigated variables that impact seizure control, such as tumor location, extent of resection, invasion into the lenticulostriate arteries in the patient, especially those with insular gliomas. Methods: Out of 67 patients with eloquent area brain tumors operated on in our service between 2007 and 2016, 14 patients had symptoms of drug-resistant epilepsy. Volumetric analysis, extent of resection (EOR), type of approach and mapping, among other factors were correlated with the 12-month postoperative seizure outcome. Results: Univariate analysis showed that the factors showing statistical relevance with seizure control were preoperative volume (p = 0.005), EOR (p = 0.028) and postoperative volume (p = 0.030). Conclusion: There was a statistically significant association between the EOR and the Engel score for epilepsy control: an EOR < 70 was associated with Engel II, III, IV and an EOR > 90 was associated with Engel I. Eloquent area gliomas can safely be resected when surgeons use not only microsurgical anatomy concepts but also brain mapping.


RESUMO Epilepsia refratária secundária a tumores cerebrais são geralmente causadas por gliomas de baixo grau. Esse grupo de tumor é frequentemente localizado em áreas eloquentes do cérebro como na insula, córtex rolândico e área motora suplementar; e sua ressecção apresenta alto risco de déficits neurológicos no pós operatório. Objetivo: O objetivo do estudo consiste em apresentar nossa experiência no tratamento cirúrgico de pacientes com epilepsia refratária secundário a gliomas em áreas eloquentes. Métodos: O estudo consiste em investigação retrospectiva de variáveis que interferem no controle de crises, tais como localização do tumor, grau de ressecção, invasão tumoral de artérias lenticulo estriadas, principalmente em gliomas insulares. Dentre 67 pacientes portadores de gliomas em área eloquente operados no período de 2007 a 2016, 14 doentes apresentavam epilepsia refrataria associada. Análise volumétrica do tumor, grau de ressecção, acesso cirúrgico, bem como o uso de mapeamento cortical intraoperatório foram correlacionados com desfecho de controle de crises epilepticas em 12 meses. Resultados: Em análise univariada os fatores relacionados com controle de crises em 12 meses foram volume tumoral pré operatório (p = 0,005), grau de ressecção (p = 0,028) e volume tumoral pós operatório. Conclusão: O grau de ressecção apresentou significância estatística em relação ao controle de crises conforme escala de Engel. Ressecções menores que 70% apresentaram correlação com Engel II, III e IV; enquanto ressecções maiores que 90% apresentaram correção positiva com Engel I. Gliomas em áreas eloquentes podem ser ressecados de forma segura desde que seja realizada por equipe experiente com conhecimento acurado da anatomia microcirúrgica e emprego de mapeamento cortical intraoperatório.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Young Adult , Brain Neoplasms/surgery , Brain Neoplasms/complications , Brain Neoplasms/etiology , Drug Resistant Epilepsy/surgery , Glioma/surgery , Glioma/complications , Postoperative Period , Seizures/surgery , Seizures/etiology , Brain Mapping , Brain Neoplasms/mortality , Brain Neoplasms/diagnostic imaging , Magnetic Resonance Imaging , Reproducibility of Results , Retrospective Studies , Risk Factors , Treatment Outcome , Statistics, Nonparametric , Kaplan-Meier Estimate , Glioma/mortality , Glioma/diagnostic imaging
7.
Arq. neuropsiquiatr ; 77(11): 806-814, Nov. 2019. tab
Article in English | LILACS | ID: biblio-1055184

ABSTRACT

ABSTRACT Aneurysmal subarachnoid hemorrhage is a condition with a considerable incidence variation worldwide. In Brazil, the exact epidemiology of aneurysmal SAH is unknown. The most common presenting symptom is headache, usually described as the worst headache ever felt. Head computed tomography, when performed within six hours of the ictus, has a sensitivity of nearly 100%. It is important to classify the hemorrhage based on clinical and imaging features as a way to standardize communication. Classification also has prognostic value. In order to prevent rebleeding, there still is controversy regarding the ideal blood pressure levels and the use of antifibrinolytic therapy. The importance of definitely securing the aneurysm by endovascular coiling or surgical clipping cannot be overemphasized. Hydrocephalus, seizures, and intracranial pressure should also be managed. Delayed cerebral ischemia is a severe complication that should be prevented and treated aggressively. Systemic complications including cardiac and pulmonary issues, sodium abnormalities, fever, and thromboembolism frequently happen and may have na impact upon prognosis, requiring proper management.


RESUMO Hemorragia subaracnoidea aneurismática (aHSA) é uma condição com grande variação de incidência mundialmente. No Brasil, não dispomos de números epidemiológicos exatos. A apresentação clínica mais comum da HSA é a cefaleia, usualmente descrita como a pior da vida. A tomografia de crânio, quando feita nas primeiras 6 horas do ictus, tem uma sensibilidade próxima a 100%. É importante classificar a hemorragia utilizando escalas clínicas e radiológicas, como forma de padronizar a comunicação, e também predizer prognóstico. Para prevenção de ressangramento, ainda há controvérsias quanto aos níveis pressóricos ideais e uso de antifibrinolíticos. O tratamento definitivo do aneurisma, por sua vez, é fundamental, seja por meio endovascular ou cirúrgico. Hidrocefalia, crises epilépticas e a pressão intracraniana devem ser manejadas de forma apropriada. Isquemia cerebral tardia é uma complicação grave que deve ser prevenida e tratada agressivamente. Complicações sistêmicas, incluindo cardíacas, pulmonares, anormalidades de sódio, febre e tromboembolismo ocorrem frequentemente e podem ter impacto no prognóstico, necessitando de manejo adequado.


Subject(s)
Humans , Subarachnoid Hemorrhage/complications , Subarachnoid Hemorrhage/physiopathology , Seizures/etiology , Seizures/physiopathology , Seizures/therapy , Subarachnoid Hemorrhage/therapy , Brain Ischemia/etiology , Brain Ischemia/physiopathology , Brain Ischemia/therapy , Risk Factors , Hydrocephalus/etiology , Hydrocephalus/physiopathology , Hydrocephalus/therapy
8.
Medicina (B.Aires) ; 79(supl.3): 20-24, set. 2019. tab
Article in Spanish | LILACS | ID: biblio-1040544

ABSTRACT

Las enfermedades neurometabólicas que manifiestan convulsiones y epilepsia constituyen un amplio grupo de trastornos hereditarios. Se pueden presentar a cualquier edad desde el período neonatal hasta la adolescencia. Las manifestaciones epilépticas pueden ser muy variadas y, en general, se trata de epilepsias refractarias a los fármacos antiepilépticos. La fenomenología epiléptica no contribuye al diagnóstico. Se deben conocer los errores innatos del metabolismo que responden al empleo de cofactores. En descompensaciones agudas es fundamental dar soporte nutricional, hidroelectrolítico y respiratorio. Es muy posible que en pocos años se pueda conocer el perfil metabolómico de estas enfermedades y así profundizar en el diagnóstico no invasivo y ofrecer mayores posibilidades terapéuticas para la epilepsia y especialmente para la enfermedad de base. No debemos olvidar los desórdenes metabólicos transitorios y los desequilibrios hidroelectrolíticos dentro de las causas de las convulsiones, en especial en el período neonatal, que se deben identificar y tratar precozmente para evitar daños mayores.


Neurometabolic diseases that manifest seizures and epilepsy are a large group of inherited disorders. They can present at any age from the neonatal period to adolescence. The epileptic manifestations can be very varied and, in general, they are epilepsies refractory to antiepileptic drugs. Epileptic phenomenology does not contribute to the diagnosis. The inborn errors of metabolism that respond to the use of cofactors should be known. In acute decompensation, it is essential to provide nutritional, hydroelectrolytic and respiratory support. It is possible that in a few years we can detect the metabolomic profile of these diseases, thus knowing better the diagnosis non-invasively and offering greater therapeutic possibilities for their epilepsy and especially for the underlying disease. We must not forget the transitory metabolic disorders and the electrolyte imbalances within the causes of seizures, especially in the neonatal period, and must be identified and treated early to avoid major damages.


Subject(s)
Humans , Infant, Newborn , Epilepsy/etiology , Metabolic Diseases/complications , Seizures/classification , Seizures/etiology , Seizures/therapy , Electroencephalography , Epilepsy/diagnosis , Epilepsy/therapy
9.
Medicina (B.Aires) ; 79(supl.3): 6-9, set. 2019. tab
Article in Spanish | LILACS | ID: biblio-1040541

ABSTRACT

El objetivo fue describir la frecuencia, modo de presentación y características de la epilepsia en niños con hemiparesia congénita (HC). Estudio retrospectivo, descriptivo y multicéntrico, basado en la recolección de datos de las historias clínicas de pacientes de 0 a 19 años con HC secundaria a infarto perinatal en diferentes centros de la comunidad de Cataluña. Se incluyeron 310 niños (55% varones y 45% mujeres) de un total de 13 centros de Cataluña. Edad media del debut de las crisis fue de 2 ± 1 año. Presentaron epilepsia el 29.5% (n = 76), el subtipo vascular más frecuente fue el infarto presumiblemente perinatal (51.3%), seguido del accidente isquémico arterial neonatal (18.4%), infarto hemorrágico venoso periventricular (15.8%), infarto hemorrágico neonatal (10.5%) y trombosis venosa neonatal (3.9%). La semiología de las crisis más frecuente fue la focal motora en un 82%, seguida de las focales motoras con bilateralización secundaria en el 23%, focales discognitivas en 13.5%, generalizadas 2% y espasmos 6.5%. El 67.3% se controló con monoterapia y los fármacos empleados fueron el valproato, levetiracetam o carbamacepina. Se identificó el antecedente de estatus eléctrico durante el sueño en 3 pacientes, todos asociados a lesiones extensas que incluían al tálamo. Del total con epilepsia, el 35% debutaron con convulsiones neonatales en los primeros 3 días de vida. El 30% con accidente cerebrovascular perinatal y HC presentan riesgo de padecer epilepsia durante la infancia. Aquellos con infartos isquémicos tienen el riesgo más alto, por lo que requerirán un seguimiento dirigido a detectar precozmente la epilepsia e iniciar tratamiento.


The objective was to describe the frequency, mode of presentation and characteristics of epilepsy in children with congenital hemiparesis (CH). It is a etrospective, descriptive and multicenter study, based on the collection of data from the clinical records of patients from 0 to 19 years with CH secondary to perinatal infarction in different centers of the community of Catalonia. A total of 310 children were included (55% males and 45% females), from a total of 13 centers in Catalonia. Average age of onset of the crises was 2 ± 1 year. Epilepsy was present in 29.5% (n = 76), among which the most frequent vascular subtype was arterial presumed perinatal ischemic stroke (51.3%), followed by neonatal arterial ischemic stroke (18.4%), periventricular venous infarction (15.8%), neonatal hemorrhagic stroke (10.5%) and neonatal cerebral sinovenous thrombosis (3.9%). Semiology of the most frequent seizures was motor focal in 82%, followed by focal motor with secondary bilateralization in 23%, focal discognitive in 13.5%, generalized by 2% and spasms in 6.5%. The 67.3% were controlled with monotherapy and the drugs used were valproate, levetiracetam or carbamazepine. The antecedent of electrical status during sleep was identified in 3 patients, all associated with extensive lesions that included the thalamus. Of the total number of children with epilepsy, 35% began with neonatal seizu res in the first 3 days of life. The 30% of children with perinatal stroke and CH present a risk of epilepsy during childhood. Children with ischemic strock have the highest risk, so they will require a follow-up aimed at detecting prematurely the epilepsy and start a treatment.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Young Adult , Paresis/congenital , Paresis/etiology , Stroke/complications , Epilepsy/etiology , Seizures/etiology , Spain , Carbamazepine/therapeutic use , Retrospective Studies , Risk Factors , Valproic Acid/therapeutic use , Epilepsy/drug therapy , Levetiracetam/therapeutic use , Anticonvulsants/therapeutic use
10.
Rev. chil. obstet. ginecol. (En línea) ; 84(2): 151-157, 2019. tab, graf
Article in Spanish | LILACS | ID: biblio-1013826

ABSTRACT

RESUMEN Objetivo: Las porfirias son trastornos que resultan de un defecto enzimático específico en la vía bioquímica de las porfirias. Los síntomas clínicos incluyen dolor abdominal, alteraciones gastrointestinales y manifestaciones psiquiátricas. Material y métodos: Mujer de 41 años, con diabetes gestacional y parto por cesárea hace 7 días, que acude a urgencias con convulsiones tónicoclónicas. En tratamiento antibiótico por infección de la herida quirúrgica. Los exámenes de laboratorio demostraron hiponatremia, hipokalemia y anemia. El diagnóstico de porfiria aguda intermitente (PAI) fue confirmado por el hallazgo de porfirinas elevadas en orina. La paciente fue dada de alta después de dos semanas. Resultados: se solicita un test rápido de PBG cuantitativo en orina, que resulta positivo (>10 mg PBG / g creatinina), por lo que se solicita un estudio completo de la enfermedad y se envían muestras a un hospital de referencia para análisis bioquímico y genético de PBGD/HMBS (Hidroximetilbilano sintetasa /PBG-desaminasa). Presenta la mutación c.815_818 del AGGA, que se trasmite de forma autosómica dominante, aunque con baja penetrancia. Conclusión: El diagnóstico de PAI es complejo debido al amplio espectro de síntomas, además el embarazo y el puerperio puede exacerbar la enfermedad.


SUMMARY Objective: Porphyrias are a heterogeneous group of either inherited or acquired disorders of the enzymatic biosynthesis of porphyrins. In these diseases, specific abnormalities of enzymes cause diverse clinical manifestations including abdominal pain, gastrointestinal alterations and psychiatric manifestations. Materials and methods: A 41-year-old woman with gestational diabetes and cesarean delivery 7 days ago with intradural anesthesia. She was admitted with tonic clonic seizures and diffuse abdominal pain. She is under antibiotic treatment for infection of the surgical wound. Laboratory exams showed hyponatremia, hypokalemia and anemia. A diagnosis of acute intermittent porphyria was confirmed with elevated porphyrinis in urine. Results: a rapid test of quantitative PBG in urine is permormed, which is positive (>10 mg PBG / g creatinin), so a complete study of the disease is requested and samples are sent to a reference hospital for biochemical and genetic analysis of PBGD / HMBS (Hydroxymethylbilane synthetase / PBG-deaminase). It presents the c.815_818 mutation of the AGGA, which is transmitted in an autosomal dominant manner, although with low penetrance. Conclusion: The diagnosis of acute intermittent porphyria is complex because of the wide spectrum of symptoms. Pregnancy or the puerperium might exacerbate the disease


Subject(s)
Humans , Female , Pregnancy , Adult , Pregnancy Complications/diagnosis , Porphyria, Acute Intermittent/diagnosis , Porphyrias/urine , Seizures/etiology , Porphyria, Acute Intermittent/complications , Porphyria, Acute Intermittent/urine , Porphyria, Acute Intermittent/therapy , Postpartum Period
11.
Arch. argent. pediatr ; 116(5): 659-662, oct. 2018. ilus, tab
Article in Spanish | LILACS, BINACIS | ID: biblio-973668

ABSTRACT

La infección meningocócica tiene una elevada morbimortalidad. Las coinfecciones virales han sido descritas, fundamentalmente, por virus herpes y respiratorios. Se presenta una paciente que ingresó al Servicio de Emergencia con convulsión tónico-clónica, hipotensión, taquicardia y escala de Glasgow posterior baja. En la Unidad de Cuidados Intensivos mantuvo alteración del nivel de conciencia y requirió estabilización hemodinámica. Se inició antibioterapia de amplio espectro. La paciente mostró deposiciones líquidas malolientes, sin sangre, que fueron cultivadas y estudiadas mediante reacción en cadena de la polimerasa. El líquido cefalorraquídeo fue normal. Las deposiciones resultaron positivas para astrovirus. Se confirmó, mediante reacción en cadena de la polimerasa en sangre, la presencia de Neisseria meningitidis serogrupo B. Se presenta el primer caso pediátrico de coinfección por astrovirus y Neisseria meningitidis. Este virus debería incluirse entre las causas de coinfección para descartar en caso de clínica abdominal predominante, vómitos o deposiciones líquidas.


Meningococcal infection associates high morbidity and mortality. Viral coinfection has been described mainly with herpes and respiratory virus. We describe a child who suffered a tonic-clonic seizure with hypotension, tachycardia and low Glasgow Coma Scale. She maintained an altered mental status and required hemodynamic stabilization in the Pediatric Intensive Care Unit. Wide spectrum antibiotherapy was initiated. She suffered large and foul-smelling liquid not bloody stools which were cultured and studied by polymerase chain reaction. The cerebrospinal fluid was normal. Later the polymerase chain reaction stools were positive to astrovirus, and the blood polymerase chain reaction was positive to Neisseria meningitidis group B. As far as we know, this is the first case of astrovirus and Neisseria meningitidis coinfection described in children. This virus should be considered as new cause of viral coinfection to discard if unexplained abdominal pain or vomits and liquid stools are observed.


Subject(s)
Humans , Female , Child, Preschool , Astroviridae/isolation & purification , Astroviridae Infections/diagnosis , Neisseria meningitidis, Serogroup B/isolation & purification , Meningococcal Infections/diagnosis , Seizures/etiology , Seizures/microbiology , Intensive Care Units, Pediatric , Glasgow Coma Scale , Polymerase Chain Reaction , Astroviridae Infections/microbiology , Astroviridae Infections/drug therapy , Coinfection , Meningococcal Infections/microbiology , Meningococcal Infections/drug therapy , Anti-Infective Agents/administration & dosage
12.
Medicina (B.Aires) ; 78(supl.2): 25-29, set. 2018.
Article in Spanish | LILACS | ID: biblio-955010

ABSTRACT

Las convulsiones neonatales son una expresión común de lesiones cerebrales agudas durante el periodo perinatal y podrían incrementar el daño neuronal. La mayoría son electroencefalográficas y las clínicas pueden ser sutiles y difíciles de identificar por el personal médico. Las convulsiones neonatales son usualmente cortas pero frecuentes al inicio y tienden a desaparecer en un periodo corto. El video-EEG continuo es el test ideal para detectar estas convulsiones, pero el EEG de amplitud es útil cuando el EEG convencional no está disponible. El monitoreo con EEG no solo es necesario para evaluar la frecuencia y duración de estas convulsiones, también puede proporcionar información pronóstica importante.


Neonatal seizures are common expression of acute brain injury in the perinatal period and could potentiate the degree of neuronal injury. The majority of events are electroencephalographic and the clinical seizures can be subtle and difficult to identify by medical personnel. Neonatal seizures are usually short and frequent at onset and have a tendency to subside after a short period. Continuous video-EEG monitoring is the gold standard to detect seizures, but amplitude integrated EEG is a useful tool when conventional EEG is not available. EEG monitoring is important not only to monitor frequency and duration of seizures but to provide important prognostic information.


Subject(s)
Humans , Infant, Newborn , Seizures/diagnosis , Electroencephalography , Neurophysiological Monitoring/methods , Seizures/etiology , Seizures/physiopathology , Brain/physiopathology
13.
Rev. pediatr. electrón ; 15(1): 4-11, abr. 2018. tab
Article in Spanish | LILACS | ID: biblio-988302

ABSTRACT

Introducción. Las crisis convulsivas son la urgencia neurológica más frecuente en pediatría, llegando a ser una urgencia vital, sobre todo cuando se presentan status convulsivos que ameritan vigilancia en unidad de cuidados intensivos pediátricos (UCIP). Materiales y métodos. La población de estudio fue un total de 60 pacientes menores de 18 años hospitalizados en UCIP en un hospital ubicado en Cartagena-Colombia. La data resultante se le calculó estadísticos univariados de tendencia central y proporciones, como tablas de frecuencia univariada y bivariadas. Resultados. Se obtuvo una población de 60 pacientes en edad pediátrica, con edad promedio de 3.85 años, teniendo antecedente de epilepsia el 64.81% y el 23,33% parálisis cerebral, la comorbilidad con mayor frecuencia fue la infección meníngea con un 25.71%. Los pacientes con antecedentes de epilepsia el medicamento más utilizado ambulatoriamente fue el ácido valproico con 48.33%, seguidamente de levetiracetam 26.67% y carbamazepina 13.33%. Dentro de la población estudiada el 83.33% presento status convulsivos, siendo la crisis tónico clónica generalizada el tipo de crisis más frecuentemente descrita con un porcentaje del 88%, los medicamentos anticonvulsivantes más utilizados para yugular crisis, se encontró el midazolam con un 98.33%. El 95% salió vivo de la institución y un 5% falleció. Conclusiones. Las principales causas de status epiléptico se encuentran la lesión cerebral aguda, convulsiones febriles atípicas, epilepsia y enfermedades degenerativas, lo que concuerda con lo descrito en la literatura, los medicamentos anticonvulsivantes más utilizados en UCIP son el midazolam en primera estancia y el ácido valproico en segunda estancia.


Introduction. Seizures are the most frequent neurological urgency in pediatrics, becoming a vital urgency, especially when there are convulsive states that merit surveillance in a pediatric intensive care unit (PICU). Materials and methods. The study population was a total of 60 patients under the age of 18 hospitalized in PICU in a hospital located in Cartagena-Colombia. The resulting data were calculated univariate statistics of central tendency and proportions, such as univariate and bivariate frequency tables. Results. A population of 60 pediatric patients with a mean age of 3.85 years was obtained, having a history of epilepsy in 64.81% and 23.33% in cerebral palsy. The most common comorbidity was meningeal infection with 25.71%. Patients with a history of epilepsy, the most widely used outpatient medication was valproic acid with 48.33%, followed by levetiracetam 26.67% and carbamazepine 13.33%. Within the study population, 83.33% presented convulsive status, with the generalized clonic tonic crisis being the most frequently described type of crisis with a percentage of 88%, the most used anticonvulsant drugs for jugular crisis, midazolam was found with 98.33%. 95% left the institution alive and 5% died. Conclusions. The main causes of epileptic status are acute brain injury, atypical febrile seizures, epilepsy and degenerative diseases, which is consistent with what has been described in the literature, the most used anticonvulsant medications in PICU are midazolam in the first stay and valproic acid In second stay.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Seizures/epidemiology , Status Epilepticus/epidemiology , Seizures/etiology , Seizures/drug therapy , Status Epilepticus/drug therapy , Benzodiazepines/therapeutic use , Intensive Care Units, Pediatric , Valproic Acid/therapeutic use , Colombia , Anticonvulsants/therapeutic use
14.
Medicina (B.Aires) ; 78(2): 86-90, abr. 2018. ilus
Article in Spanish | LILACS | ID: biblio-954955

ABSTRACT

El accidente cerebrovascular (ACV) es la causa más común de convulsiones y epilepsia observada en estudios poblacionales de adultos. Las convulsiones ocurren dentro de las 24 horas posteriores al ACV en un alto porcentaje de pacientes. La patogénesis de estas convulsiones de inicio temprano puede estar relacionada con cambios iónicos locales y liberación de altos niveles de neurotransmisores excito-tóxicos en el área lesionada. Una lesión permanente con cambios en la excitabilidad neuronal parece ser responsable de convulsiones de inicio tardío después del ACV. Los factores de riesgo más comúnmente identificados con el comienzo agudo o tardío de las convulsiones post ACV son la gravedad y la localización cortical. La mayoría de las convulsiones post ACV son focales al inicio pero pueden generalizarse secundariamente, el estatus epiléptico es poco frecuente. La eficacia de las drogas antiepilépticas para estas convulsiones no ha sido rigurosamente evaluada en estudios controlados, aunque la mayoría de las convulsiones pueden ser controladas con un solo agente. Dada la frecuencia relativamente baja de convulsiones recurrentes después del ACV y la ausencia de predictores absolutos de epilepsia post ACV, la decisión de cuándo tratar a los pacientes con una convulsión después de un ACV es difícil.


Stroke is the most common cause of seizures and epilepsy in population stuies of adults. Seizures occur within 24 hours of the stroke in a high percent of patients. The pathogenesis of these early-onset seizures may be related to local ion shifts and release of high levels of excitotoxic neurotransmitters in the area of ischemic injury. The risk of late-onset seizures may increase over time, an underlying permanent lesion that leads to persistent chnges in neuronal excitability appears to be responsible for late-onset seizures after stroke. The most consistently identified risk factors for acute and late post-stroke seizures are stroke severity and cortical location. Most seizures following stroke are focal at onset, but secondary generalization is common, particularly in patients with late-onset seizures. Status epilepticus is relatively uncommon. The efficacy of antiepileptic drugs for these post-stroke seizures has not been rigorously assessed in controlled trials, although most seizures can be controlled with a single agent. Given the relatively low frequency of recurrent seizures after stroke, and an absence of absolute predictors of poststroke epilepsy, the decision of when to treat patients for a post-stroke seizure is difficult.


Subject(s)
Humans , Seizures/etiology , Stroke/complications , Epilepsy/etiology , Seizures/prevention & control , Seizures/drug therapy , Brain/physiopathology , Brain Ischemia/complications , Risk Factors , Stroke/prevention & control , Stroke/drug therapy , Epilepsy/prevention & control , Epilepsy/drug therapy , Anticonvulsants/therapeutic use
15.
Rev. bras. neurol ; 54(1): 25-31, jan.-mar. 2018. tab
Article in Portuguese | LILACS | ID: biblio-882446

ABSTRACT

Fundamento: A hidrocefalia é acúmulo anormal de líquido cefalorraquidiano (LCR) nos ventrículos, ocasionando anormalidades funcionais e neuropsíquicas, gerando impacto para crianças, familiares e profissionais da saúde. Objetivos: Descrever a prevalência do sexo, idade, achados clínicos, idade de diagnóstico e as possíveis associações da hidrocefalia. Métodos: Trata-se de um estudo retrospectivo, a partir da análise dos prontuários de crianças de 0 a 3 anos com diagnóstico de hidrocefalia, internados na enfermaria de pediatria do Hospital Municipal Doutor Alípio Correa Netto (São Paulo - SP), no período de janeiro de 2014 a dezembro de 2016. Os dados coletados foram apresentados em relação a à porcentagem dos achados e para a análise estatística foi utilizado o cálculo de razão de chances e o intervalo de confiança pelo programa EZ-R Excel 1.99. Resultados: Foram avaliados 34 prontuários, sendo 50% de cada gênero, 50% prematuras com perímetro cefálico normal (26.5%), idade de diagnóstico menor que 6 meses (73.5%), convulsão (37.2%) como principal sintoma. O diagnóstico foi realizado por TC (61.7%). Foi encontrado que a idade materna entre 15 e 20 anos, assim como o peso ao nascimento menor 2500g estão associados aos casos de hidrocefalia. O diagnóstico da hidrocefalia, nas crianças acompanhadas no referido hospital, foi realizado principalmente por TC crânio, predominantemente em menores de 6 meses, e a convulsão foi o sintoma prevalente, podendo ser usado como alerta.(AU)


Background: Hydrocephalus is an abnormal accumulation of cerebrospinal fluid (CSF) in the ventricles, causing functional and neuropsychic abnormalities, generating impact for children, family members and health professionals. Objectives: To describe the prevalence of gender, age, clinical findings, age of diagnosis and possible associations of hydrocephalus. Methods: This is a retrospective study, based on the analysis of the children aged 0 to 3 years with diagnosis of hydrocephalus, hospitalized in the pediatrics at the Municipal Hospital Doctor Alípio Correa Netto (São Paulo - SP), from January 2014 to December 2016. The data collected were presented in relation to the percentage of the findings and for the statistical analysis, the Odds ratio and the confidence interval by the program EZ-R Excel 1.99. Results: 34 medical records were analyzed, 50% of each genus, 50% premature with normal head circumference (26.5%), diagnosis age less than 6 months (73.5%), seizure (37.2%) as the main symptom. The diagnosis was made by CT (61.7%). It was found that maternal age between age…15 and 20 years as well as birth weight less than 2500g are associated with cases of hydrocephalus. The diagnosis of Hydrocephalus, in children accompanied at the referred hospital, was performed mainly by CT scans, predominantly in children younger than 6 months and the seizure was the prevalent symptom and can be used as an alert.(AU)


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Birth Weight , Hydrocephalus/complications , Hydrocephalus/epidemiology , Hydrocephalus/diagnostic imaging , Seizures/etiology , Tomography, X-Ray Computed/methods , Cerebrospinal Fluid , Medical Records , Prevalence , Retrospective Studies , Maternal Age , Hospitalization/statistics & numerical data
16.
Rev. bras. neurol ; 53(1): 42-44, jan.-mar. 2017. ilus
Article in English | LILACS | ID: biblio-832766

ABSTRACT

Bob Marley's had a great importance to Jamaica, Caribbean popular music, and Pan-Africanism. Under the name of the Wailers, several Marley's success reggae albums were recorded between 1969 and 1975. After this, at the solo career, he was placed as the most important reggae singer. The disease that ruined Bob Marley was an acral melanoma (right hallux) that had a late diagnosis and treatment, followed by metastases to the abdomen, the lungs and the brain. Seizures have been the warning sign that the melanoma had spread, three years after the initial injury. We presented here the history of the disease of this famous singer and reported another patient with a case quite similar to him, calling his illness as "Bob Marley's disease".


Bob Marley representou um marco para a Jamaica, para a música popular do Caribe, e para o Pan-Africanismo. Com o nome de Wailers, vários álbuns de reggae foram gravados com sucesso entre 1969 e 1975. Em sua carreira solo, ele foi considerado o mais importante cantor de reggae. A doença que dizimou Bob Marley foi um melanoma acral (hálux direito) que teve um diagnóstico e tratamento tardios, seguido de metástases para o abdome, pulmões e encéfalo. Crises convulsivas foram o sinal de alerta, três anos após a lesão inicial, de que o melanoma estava disseminado. Nós apresentamos aqui a história da doença deste famoso cantor e relatamos um outro paciente com um caso similar ao qual denominamos "doença de Bob Marley".


Subject(s)
Humans , Male , Adult , Aged , Skin Neoplasms/pathology , Brain Neoplasms/diagnosis , Brain Neoplasms/etiology , Melanoma/complications , Seizures/etiology , Hallux/surgery , Hallux/injuries , Tomography, X-Ray Computed/methods , Delayed Diagnosis/adverse effects , Amputation , Neoplasm Metastasis/diagnosis
17.
Rev. bras. neurol ; 53(1): 38-41, jan.-mar. 2017. ilus, tab
Article in Portuguese | LILACS | ID: biblio-832764

ABSTRACT

A forma pseudotumoral de esclerose múltipla é extremamente rara e possui uma grande variedade de diagnósticos diferenciais, o que a torna um desafio na prática neurológica. Neste artigo, apresentamos um caso desta manifestação incomum de esclerose múltipla, que foi avaliado em uma clínica especializada no Rio de Janeiro. O caso é de um individuo do sexo masculino de 21 anos que apresentou apenas crises convulsivas. Apresentou curso benigno da doença.


Pseudotumoral forms of multiple sclerosis are very and have a great variety of differential diagnosis, which poses it as a great challenge in neurological practice. In this paper, we report one case of this uncommon manifestation of multiple sclerosis, which was assessed in a specialized clinic in Rio de Janeiro. The case is a 21 year old male patient that had only seizures. He presented a benign course of the disease.


Subject(s)
Humans , Male , Young Adult , Pseudotumor Cerebri/diagnosis , Multiple Sclerosis/complications , Multiple Sclerosis/diagnosis , Multiple Sclerosis/epidemiology , Seizures/etiology , Skull/diagnostic imaging , Review Literature as Topic , Tomography, X-Ray Computed/statistics & numerical data , Diagnosis, Differential
18.
Rev. chil. pediatr ; 88(1): 41-49, 2017. ilus, tab
Article in Spanish | LILACS | ID: biblio-844584

ABSTRACT

El complejo de esclerosis tuberosa (CET) es una enfermedad autosómica dominante multisistémica producida por mutaciones en los genes supresores de tumores TSC1 o TSC2. Objetivo: Caracterizar clínica y genéticamente pacientes pediátricos con diagnóstico de CET. Pacientes y Método: Estudio descriptivo de registros clínicos de 42 pacientes pediátricos controlados en un servicio de neuropsiquiatría infantil con diagnóstico de CET y estudio genético en 21 de ellos. Se amplificó por reacción en cadena de la polimerasa y secuenció el exón 15 del gen TSC1 y los exones 33, 36 y 37 del gen TSC2. Se analizó la relación entre las mutaciones encontradas con la severidad y evolución clínica. Resultados: En el 61,9% de los pacientes las manifestaciones comenzaron antes de los 6 meses de edad. Las manifestaciones iniciales de CET más frecuentes fueron las crisis convulsivas (73,8%) y el hallazgo de rabdomiomas cardiacos (16,6%). Durante su evolución, todos los pacientes presentaron compromiso neurológico; el 92,9% presentó epilepsia. Todos los pacientes presentaron máculas hipomelanóticas, 47,6% pangiofibromas faciales, 23,8% parches de Shagreen, 47,6% rabdomiomas cardiacos y 35,7% hamartomas retinianos. El estudio genético realizado a 21 pacientes identificó 2 mutaciones heterocigotas patogénicas en TSC1 y una en TSC2. Este último paciente presentaba un fenotipo clínico más severo. Conclusiones: Las manifestaciones neurológicas y dermatológicas fueron las más frecuentes en los pacientes con CET. Se identificaron 2 mutaciones patogénicas en el gen TSC1 y una en el gen TSC2. La mutación en TSC2 se manifestó en un fenotipo clínico más severo.


Tuberous sclerosis complex (TSC) is a multisystem autosomal dominant disease caused by mutations in the tumor suppressor genes TSC1 or TSC2. Objective: To characterize clinically and genetically patients diagnosed with TSC. Patients and Method: Descriptive study of clinical records of 42 patients from a pediatric neuropsychiatry department diagnosed with TSC and genetic study in 21 of them. The exon 15 of TSC1 gene and exons 33, 36 and 37 of TSC2 gene were amplified by polymerase chain reaction and sequenced. The relationship between the mutations found with the severity and clinical course were analyzed. Results: In 61.9% of the patients the symptoms began before 6 months of age. The initial most frequent manifestations of TSC were new onset of seizures (73.8%) and the detection of cardiac rhabdomyomas (16.6%). During the evolution of the disease all patients had neurological involvement; 92.9% had epilepsy. All patients presented hypomelanotic spots, 47.6% facial angiofibromas, 23.8% Shagreen patch, 47.6 heart rhabdomyomas and 35.7% retinal hamartomas. In the genetic study of 21 patients two heterozygous pathogenic mutations in TSC1 and one in TSC2 genes were identified. The latter had a more severe clinical phenotype. Conclusions: Neurological and dermatological manifestations were the most frequent ones in patients with TSC. Two pathogenic mutations in TSC1 and one in TSC2 genes were identified. The patient with TSC2 mutation manifested a more severe clinical phenotype.


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Seizures/etiology , Tuberous Sclerosis/genetics , Tumor Suppressor Proteins/genetics , Rhabdomyoma/etiology , Rhabdomyoma/genetics , Seizures/genetics , Tuberous Sclerosis/physiopathology , Severity of Illness Index , Polymerase Chain Reaction/methods , Exons , Tuberous Sclerosis Complex 1 Protein , Tuberous Sclerosis Complex 2 Protein , Heart Neoplasms/etiology , Heart Neoplasms/genetics , Mutation
19.
Medical Principles and Practice. 2017; 26 (3): 292-295
in English | IMEMR | ID: emr-188538

ABSTRACT

Objective:To present a case with 4 different potential causes of hyponatremia


Clinical Presentation and Intervention: The patient presented with the following symptoms: nausea, vomiting, diarrhea, and dark urine after drinking large amounts of fluids that included alcohol and caffeine. Laboratory, microbiological, and morphological examinations revealed the existence of severe hyponatremia and acute poststreptococcal glomerulonephritis. The patient developed acute symptomatic seizures and coma. Gradual normalization of the sodium level led to a recovery of consciousness


Conclusion:Treatment with hypertonic sodium, fluid restriction, and antibiotics led to a complete recovery. In the case of multiple causes of hyponatremia, it is necessary to treat all causes


Subject(s)
Humans , Male , Adult , Glomerulonephritis/complications , Seizures/etiology , Coma/etiology , Sodium/deficiency , Saline Solution, Hypertonic/therapeutic use
20.
Porto Alegre; Universidade Federal do Rio Grande do Sul. Telessaúde; 2017.
Non-conventional in Portuguese | LILACS | ID: biblio-995637

ABSTRACT

Na Atenção Primária à Saúde (APS) são comuns os atendimentos para avaliação de quadros por suspeita de epilepsia após um episódio paroxístico de abalos musculares ou por perda súbita de consciência. Entretanto, nem todo paroxismo é uma crise epiléptica e nem toda crise epiléptica é epilepsia. A epilepsia apresenta uma prevalência mundial em torno de 0,5% a 1%, sendo que 30% dos pacientes são considerados refratários, apesar de tratamento adequado com anticonvulsivante. O diagnóstico de epilepsia pode ser estabelecido clinicamente quando houver recorrência de crises epilépticas não provocadas em pessoa sem fatores desencadeantes agudos ou potencialmente reversíveis como febre, intoxicações e acidente vascular cerebral. Esta guia apresenta informação que orienta a conduta para casos de epilepsia no contexto da Atenção Primária à Saúde, incluindo: Avaliação e classifica da crise epiléptica, Crise epiléptica reativa, Diagnósticos diferenciais de crises epilépticas, Exames complementares, Diagnóstico de epilepsia, Indicação de tratamento, Escolha do anticonvulsivante e dose otimizada, Cuidados integrais para pacientes com epilepsia, Encaminhamento para serviço especializado.


Subject(s)
Humans , Seizures/etiology , Epilepsy/diagnosis , Epilepsy/therapy , Primary Health Care , Referral and Consultation , Anticonvulsants/administration & dosage
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