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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...

Caso electroencefalográfico: esclerose tuberosa

ABSTRACT We present the case of a boy with in utero diagnosis of tuberous sclerosis (TS), suspected by the finding of cardiac rabdomyomas and confirmed by fetal brain MRI with typical subependymal nodules and sucortical tubers. We emphasise that epileptic spasms are very frequent and usually the presenting seizures is TS, as occurred in our patient. Electroencephalogram revealed an atypical hypsarrythmia, and t...

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...

De uma Convulsão com Rabdomiólise ao Diagnóstico Familiar de Doença de McArdle

RESUMO As miopatias metabólicas são doenças provocadas por defeitos na utilização das reservas energéticas dos tecidos musculares. Apresentam-se por intolerância ao exercício, com fadiga ou mialgias e, por vezes, com mioglobinúria. A Doença de McArdle (doença de armazenamento do glicogénio tipo V) é uma doença deste grupo, com um modo de transmissão autossómico recessivo, causada por mutações no gene PYGM, loca...

Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.

Abstract BACKGROUND: The recessive ataxias are a heterogeneous group of neurodegenerative disorders characterized by cerebellar ataxia associated with a number of different neurologic, ophthalmologic, or general signs. They are often difficult to classify in clinical terms, except for Friedreich ataxia, ataxia-telangiectasia, and a relatively small group of rare conditions for which the molecular basis has alre...

Clinical Heterogeneity of Autosomal Recessive Spastic Paraplegias: Analysis of ...

Background Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive and predominant spasticity of the lower limbs, in which dominant, recessive, and X-linked forms have been described. While autosomal dominant HSP has been extensively studied, autosomal recessive HSP is less well known and is considered a rare condition. Objective To analyze t...