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1.
Minerva Pediatr (Torino) ; 73(2): 150-158, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-29968450

RESUMO

BACKGROUND: Neonatal hypoxic-ischemic encephalopathy is still a significant cause of neonatal death and neurodevelopmental disabilities, such as cerebral palsy, mental delay, and epilepsy. After the introduction of therapeutic hypothermia, the prognosis of hypoxic-ischemic encephalopathy has improved, with reduction of death and disabilities. However, few studies evaluated whether hypothermia affects rate and severity of postneonatal epilepsy. We evaluated rates, characteristics and prognostic markers of postneonatal epilepsy in infants with moderate to severe hypoxic-ischemic encephalopathy treated or not with therapeutic hypothermia. METHODS: We analyzed clinical data, EEG recordings, cerebral Magnetic Resonance Imaging (MRI) and outcome in 23 cooled and 26 non-cooled asphyxiated neonates (≥36 weeks' gestation), admitted from 2004 to 2012. RESULTS: Among 49 neonates 11 (22%) had postneonatal epilepsy, of which 9 (18%) were non-cooled and 2 (4%) were cooled (P=0.05). Six of 11 infants (55%) had West syndrome, 4 (36%) had focal epilepsy and 1 (9%) had Lennox-Gastaut Syndrome. At multiple logistic regression analysis MRI pattern significantly correlated with postneonatal epilepsy (OR 0.19, 95% CI 0.04-0.88, P=0.03). Extensive lesions in basal ganglia and thalami plus cortical and white matter were associated with postneonatal epilepsy. CONCLUSIONS: Only perinatal asphyxia with extensive lesions in basal ganglia and thalami plus cortical and white matter lesion conveys a high risk for early and severe postneonatal epilepsy. Moreover, therapeutic hypothermia is associated with a decrease of the risk of developing postneonatal epilepsy.


Assuntos
Encéfalo , Epilepsia Neonatal Benigna/prevenção & controle , Hipotermia Induzida , Hipóxia-Isquemia Encefálica/complicações , Gânglios da Base/diagnóstico por imagem , Eletroencefalografia , Epilepsia Neonatal Benigna/diagnóstico por imagem , Epilepsia Neonatal Benigna/etiologia , Feminino , Humanos , Hipóxia-Isquemia Encefálica/terapia , Recém-Nascido , Síndrome de Lennox-Gastaut , Modelos Logísticos , Imageamento por Ressonância Magnética , Masculino , Prognóstico , Estudos Retrospectivos , Espasmos Infantis
2.
Epilepsia ; 61(12): e192-e197, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-33098118

RESUMO

White matter undergoes rapid development in the neonatal period. Its structure during and after development is influenced by neuronal activity. Pathological neuronal activity, as in seizures, might alter white matter, which in turn may contribute to network dysfunction. Neonatal epilepsy presents an opportunity to investigate seizures and early white matter development. Our objective was to determine whether neonatal seizures in the absence of brain injury or congenital anomalies are associated with altered white matter microstructure. In this retrospective case-control study of term neonates, cases had confirmed or suspected genetic epilepsy and normal brain magnetic resonance imaging (MRI) and no other conditions independently impacting white matter. Controls were healthy neonates with normal MRI results. White matter microstructure was assessed via quantitative mean diffusivity (MD). In 22 cases, MD was significantly lower in the genu of the corpus callosum, compared to 22 controls, controlling for gestational age and postmenstrual age at MRI. This finding suggests convergent abnormal corpus callosum microstructure in neonatal epilepsies with diverse suspected genetic causes. Further study is needed to determine the specific nature, causes, and functional impact of seizure-associated abnormal white matter in neonates, a potential pathogenic mechanism.


Assuntos
Epilepsia Neonatal Benigna/patologia , Substância Branca/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Estudos de Casos e Controles , Corpo Caloso/diagnóstico por imagem , Epilepsia Neonatal Benigna/diagnóstico por imagem , Epilepsia Neonatal Benigna/genética , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Neuroimagem , Estudos Retrospectivos
3.
Epilepsia ; 57(12): 2019-2030, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27888506

RESUMO

OBJECTIVE: To evaluate treatment responses in benign familial neonatal epilepsy (BFNE). METHODS: We recruited patients with BFNE through a multicenter international collaboration and reviewed electroclinical and genetic details, and treatment response. All patients were tested at minimum for mutations/deletions in the KCNQ2, KCNQ3, and SCN2A genes. RESULTS: Nineteen patients were included in this study. A family history of neonatal seizures was positive in 16 patients, and one additional patient had a family history of infantile seizures. Mutations or deletions of KCNQ2 were found in 14, and of KCNQ3 in 2, of the 19 patients. In all patients, seizures began at 2-5 days of life and occurred multiple times per day. Four patients developed status epilepticus. Seizures were focal, alternating between hemispheres, and characterized by asymmetric tonic posturing associated with apnea and desaturation, followed by unilateral or bilateral asynchronous clonic jerking. Twelve of 19 patients were treated with multiple medications prior to seizure cessation. Seventeen of (88%) 19 patients were seizure-free within hours of receiving oral carbamazepine (CBZ) or oxcarbazepine (OXC). Earlier initiation of CBZ was associated with shorter hospitalization (p < 0.01). No side effects of CBZ were reported. All patients had normal development and remain seizure-free at a mean follow-up period of 7.8 years (6 months-16 years). SIGNIFICANCE: This study provides evidence that CBZ is safe and rapidly effective in neonates with BFNE, even in status epilepticus. We propose that CBZ should be the drug of choice in benign familial neonatal seizures.


Assuntos
Anticonvulsivantes/uso terapêutico , Carbamazepina/farmacologia , Epilepsia Neonatal Benigna/tratamento farmacológico , Pré-Escolar , Eletroencefalografia , Epilepsia Neonatal Benigna/diagnóstico por imagem , Epilepsia Neonatal Benigna/genética , Saúde da Família , Feminino , Seguimentos , Idade Gestacional , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Mutação/genética , Canal de Sódio Disparado por Voltagem NAV1.2/genética , Canais de Potássio/genética
4.
Ideggyogy Sz ; 61(11-12): 417-22, 2008 Nov 30.
Artigo em Húngaro | MEDLINE | ID: mdl-19070318

RESUMO

Authors summarized the etiology of convulsions in neonatal period and infancy (hypoxia, intracranial hemorrhage, infections of central nervous system, metabolic background, chromosomal abnormalities, brain developmental abnormalities, benign neonatal convulsions, benign neonatal familial convulsions, drug withdrawal, inborn error of metabolism). They suggest screening examinations after convulsion, summarized the basic principle of tandem examination and review a proposal at suspicion of inborn error of enzyme defects (aminoacidemias, defects of fatty acid oxidation, organic acidemias). They present case history of two patients suffered in extraordinary inborn error of enzyme defect (SCO2 gene mutation, propionic acidemia). Diagnosis originated in Helm P61 Hospital (settlement Madarász Hospital) with a Hungarian and international cooperation.


Assuntos
Epilepsia Neonatal Benigna/etiologia , Epilepsia Neonatal Benigna/metabolismo , Erros Inatos do Metabolismo/complicações , Erros Inatos do Metabolismo dos Aminoácidos/complicações , Proteínas de Transporte/genética , Hemorragia Cerebral/complicações , Aberrações Cromossômicas , Eletroencefalografia , Epilepsia Neonatal Benigna/diagnóstico por imagem , Epilepsia Neonatal Benigna/genética , Feminino , Testes Genéticos , Humanos , Hipóxia/complicações , Lactente , Recém-Nascido , Doença de Leigh/complicações , Masculino , Proteínas de Membrana/genética , Erros Inatos do Metabolismo/metabolismo , Proteínas Mitocondriais/genética , Chaperonas Moleculares , Mutação , Ultrassonografia Doppler
6.
J Neuroimaging ; 12(1): 75-7, 2002 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-11826605

RESUMO

Ictal and interictal single photon emission computed tomography (SPECT) and ictal electroencephalography (EEG) were studied in a 3-month-old girl with benign familial infantile convulsions (BFIC) to reveal the epileptic focus. There was bilateral diffuse propagation from a left frontal lobe focus on the ictal EEG. Perfusion in the left frontal region was increased on ictal SPECT and decreased on interictal SPECT. Epileptic foci of BFIC showed the same characteristics as foci of symptomatic partial epilepsy.


Assuntos
Epilepsia Neonatal Benigna/diagnóstico por imagem , Tomografia Computadorizada de Emissão de Fóton Único/métodos , Eletroencefalografia , Epilepsia Neonatal Benigna/genética , Feminino , Humanos , Recém-Nascido , Linhagem
7.
J Child Neurol ; 15(1): 56-8, 2000 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-10641612

RESUMO

We report the ictal brain single photon emission computed tomographic (SPECT) findings in two neonates. One neonate had hypoxic-ischemic encephalopathy, a disorganized discontinuous electroencephalogram (EEG) background, lethargy, seizures, and brainstem release phenomena. A brain SPECT was performed during a brainstem release phenomenon characterized by a 34-second sustained tonic posture of the right arm and chewing. It did not reveal focal cerebral hemisphere hyperfusion. The second neonate had hemimegalencephaly, low-voltage irregular EEG background, and seizures. A brain SPECT was performed during a seizure characterized by a 32-second sustained tonic posture of the right arm. It revealed focal hyperperfusion in the posterior region of the left hemisphere. The brain SPECT findings in these patients indicate that despite clinically similar events, brainstem release phenomena and seizures have different perfusion characteristics, and refute the theory that brainstem release phenomena are due to epileptic foci in the cerebral hemispheres undetectable by EEG.


Assuntos
Tronco Encefálico/diagnóstico por imagem , Encéfalo/anormalidades , Eletroencefalografia , Epilepsia Neonatal Benigna/diagnóstico por imagem , Hipóxia-Isquemia Encefálica/diagnóstico por imagem , Espasmos Infantis/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Tronco Encefálico/fisiopatologia , Epilepsia Neonatal Benigna/fisiopatologia , Potenciais Evocados/fisiologia , Humanos , Hipóxia-Isquemia Encefálica/fisiopatologia , Recém-Nascido , Monitorização Fisiológica , Cintilografia , Espasmos Infantis/fisiopatologia , Tecnécio Tc 99m Exametazima
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