10 documents found, page 1 of 1

One silence, different clinical pictures

Landau Kleffner syndrome (LKS) is a rare epileptic encephalopathy characterized by acquired receptive and expressive aphasia and epileptic seizures in a previously normal child. The diagnosis can be challenging and commonly mistaken with other clinical pictures, namely emotional conditions, mainly when identifiable triggers are present in the patient’s history. The authors present the case of a four-year-old Po...

Female preponderance in genetic generalized epilepsies

Introduction: Epilepsy is more prevalent in men but Genetic Generalized Epilepsies (GGE) seem to be more common in women. A predominant maternal inheritance has been previously described in GGE. Our objective was to determine sex and inheritance patterns in a GGE population compared to mesial temporal lobe epilepsy with hippocampal sclerosis (MTLEHS). Methods: We performed a prospective observational study incl...

Immunogenetic protective factors in Genetic Generalized Epilepsy

Background: Genetic Generalized Epilepsies (GGEs) are a heterogeneous group of syndromes characterized by generalized seizure activity that affects both hemispheres, with mainly genetic causes. Neuroinflammation has been established as an important mechanism in epileptogenesis. The ability to develop an appropriated immune response is strongly determined by immunogenetic factors. In this setting, our aim was to...

A very rare cause of infantile spasms

Psychomotor development regression or delay associated with epilepsy represent a diagnostic challenge. The diagnostic approach should take into account age group, epileptic syndrome, physical and neurological data, and organ and/or system involvement. Herein is reported the case of a toddler for whom hair development, epileptic seizure evolution, and electroencephalographic findings were key for Menkes kinky ha...

A very rare cause of infantile spasms

Psychomotor development regression or delay associated with epilepsy represent a diagnostic challenge. The diagnostic approach should take into account age group, epileptic syndrome, physical and neurological data, and organ and/or system involvement. Herein is reported the case of a toddler for whom hair development, epileptic seizure evolution, and electroencephalographic findings were key for Menkes kinky ha...

Apolipoprotein E isoforms and susceptibility to genetic generalized epilepsies

Background: Apolipoprotein E (ApoE) is the main lipoprotein secreted in brain. It has a critical immunomodulatory function, influences neurotransmission and it is involved in repairing damaged neurons. ApoE e4 is an isoform of ApoE with altered function, and was previously associated with early onset epilepsy and refractoriness, both in animal models and in patients with focal epilepsies. There is a limited kno...

Epilepsy in female adolescents: issues concerning epilepsy and antiepileptic dr...

Caso Electroencefalográfico

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...

McArdle disease: mutational spectrum of Portuguese patients

McArdle disease or Glycogen Storage Disease type V (GSD V; myophosphorylase deficiency; MIM 232600) its an inborn error of glycogen metabolism, caused by a deficiency in muscle specific isoform of glycogen phosphorylase. This metabolic myopathy is characterised by exercise intolerance, myalgia, cramps and episodic myoglobinuria, symptoms that usually appear during the second or third decade of life. The diagnos...

Caso electroencefalográfico: epilepsia mioclónica precoce

ABSTRACT Introduction: The suppression-burst (SB) electroencephalographic pattern is rather common during the neonatal period and suggests severe encephalopathy. When significant hypoxic-ischemic insult is excluded, brain malformations and metabolic disorders have to be ruled out. Two distinctive epileptic syndromes are described: early epileptic encephalopathy with SB (Ohtahara syndrome) and early myoclonic ep...