14 documents found, page 1 of 2

Circulating microRNAs as potential biomarkers for genetic generalized epilepsie...

Background and purpose: Genetic generalized epilepsies (GGEs) encompass a group of syndromes of mainly genetic causes, characterized by the involvement of both hemispheres. MicroRNAs (miRNAs) are small non-coding RNAs with a critical role in the regulation of neuronal biological processes through gene expression modulation. Dysregulated miRNA expression has been shown in epilepsy. Due to their stability in biol...

D-bifunctional protein deficiency – a cause of neonatal onset seizures and hypo...

Background Peroxisomal disorders are classified in two major groups: (1) Peroxisome Biogenesis Disorders and (2) single Peroxisomal Enzyme/Transporter Deficiencies. D-bifunctional protein deficiency (DBP; OMIM #261515) included in this last group of rare diseases leads to an impaired peroxisomal beta-oxidation. D-bifunctional protein deficiencies are classified in four types based on the degree of activity of t...

Caso electroencefalográfico: Síndroma de Panayiotopoulos

Introdução: O Síndrome de Panayiotopoulos é a segunda epilepsia focal idiopática infantil mais comum, com um pico de incidência aos 4-5 anos. A sua incidência é subestimada devido às manifestações clínicas atípicas, caracterizando-se por crises com predomínio de sintomas autonómicos. Caso clínico: Descreve-se um caso clássico de Síndrome de Panayiotopoulos, com crises recorrentes, com boa resposta à terapêutica...

Caso electroencefalográfico: epilepsia de ausências da infância

ABSTRACT Introduction: Typical absence seizures are quite common in chidhood, in most cases fitting the criteria for childhood absence epilepsy. Differential diagnosis is mainly with inattention and focal hypomotor seizures. Response to adequate antiepileptic drug therapy is usually very good. Case report: We report a classical case of a school-age girl with many episodes per day of staring and eye rolling with...

Caso electroencefalográfico: epilepsia do lobo frontal

Paroxysmal motor disorders during sleep in children are a diagnostic challenge, and careful anamnesis, direct observation of the nocturnal episodes, preferentially with concomitant video- EEG recording, are essential for correct diagnosis and adequate treatment. We present the case of an 11 year-old-boy with frequent, predominantly nocturnal episodes, initially interpreted as generalized seizures, with no respo...

Caso electroencefalográfico: Panencefalite Esclerosante Subaguda (pós-sarampo)

ABSTRACT Introduction: Subacute sclerosing panencephalitis is a very rare disease in countries with measles vaccination programs, and is due to a persistent infection by a defective measles virus. The disease has a progressive fatal course. Case report: We describe the case of a 13 year-old boy with a progressive clinical picture of cognitive impairment, myoclonus, and pyramidal, extrapyramidal and cerebellar s...

Espasmos de Choro: Problema de Comportamento?

RESUMO Os espasmos de choro são uma entidade clínica frequente que, no entanto, assusta os pais e são motivo de consulta para grande número de crianças. A sua apresentação clínica, apesar de típica, pode não ser suficiente para um diagnóstico correcto, sendo importante o diagnóstico diferencial com outras patologias. Os espasmos de choro têm sido associados a perturbações do comportamento, mas esta relação não ...

Caso electroencefalográfico: mioclonias palpebrais

ABSTRACT Introduction. Eyelid myoclonia with or without absences may occur in several epileptic conditions, and they are frequently misinterpreted as movement disorders. Case report. A seven-year-old boy was admitted for evaluation of eye blinking that started at age of six. He had never had generalized tonic-clonic or absence seizures. Video-EEG monitoring revealed 3-5 Hz irregular occipital or generalized pol...

Caso electroencefalográfico: epilepsia focal

Caso electroencefalográfico: episódios de auto-gratificação

ABSTRACT Auto-gratification disorder is often misdiagnosed as other paroxysmal events, namely epileptic seizures. It typically occurs in female infants and begins during the first year of life. The episodes are stereotyped and some clinical issues can strongly suggest the diagnosis. Home video may lead to the diagnosis and avoid unnecessary investigations. An illustrative case of a 9 month-old baby female is pr...