RESUMEN
We describe the relative frequency, clinical features, neuroimaging and pathological results, and outcome after pharmacological or surgical intervention for a series of pediatric patients with temporal lobe epilepsy (TLE) from an epilepsy center in Brazil. The medical records of children younger than 12 years with features strongly suggestive of TLE were reviewed from January 1999 to June 1999. Selected children were evaluated regarding clinical, EEG, and magnetic resonance imaging (MRI) investigation and divided into three groups according to MRI: group 1 (G1, N = 9), patients with hippocampal atrophy; group 2 (G2, N = 10), patients with normal MRI, and group 3 (G3, N = 12), patients with other specific temporal lesions. A review of 1732 records of children with epilepsy revealed 31 cases with TLE (relative frequency of 1.79 percent). However, when the investigation was narrowed to cases with intractable seizures that needed video-EEG monitoring (N = 68) or epilepsy surgery (N = 32), the relative frequency of TLE increased to 19.11 (13/68) and 31.25 percent (10/32), respectively. At the beginning of the study, 25 of 31 patients had a high seizure frequency (80.6 percent), which declined to 11 of 31 (35.5 percent) at the conclusion of the study, as a consequence of pharmacological and/or surgical therapy. This improvement in seizure control was significant in G1 (P < 0.05) and G3 (P < 0.01) mainly due to good postsurgical outcome, and was not significant in G2 (P > 0.1, McNemar's test). These results indicate that the relative frequency of TLE in children was low, but increased considerably among cases with pharmacoresistant seizures. Patients with specific lesions were likely to undergo surgery, with good postoperative outcomes.
Asunto(s)
Humanos , Masculino , Femenino , Preescolar , Niño , Epilepsia del Lóbulo Temporal/cirugía , Hipocampo/patología , Lóbulo Temporal/patología , Atrofia , Electroencefalografía/métodos , Imagen por Resonancia Magnética , Periodo Posoperatorio , Estudios Retrospectivos , Resultado del Tratamiento , Grabación en VideoRESUMEN
We describe the relative frequency, clinical features, neuroimaging and pathological results, and outcome after pharmacological or surgical intervention for a series of pediatric patients with temporal lobe epilepsy (TLE) from an epilepsy center in Brazil. The medical records of children younger than 12 years with features strongly suggestive of TLE were reviewed from January 1999 to June 1999. Selected children were evaluated regarding clinical, EEG, and magnetic resonance imaging (MRI) investigation and divided into three groups according to MRI: group 1 (G1, N = 9), patients with hippocampal atrophy; group 2 (G2, N = 10), patients with normal MRI, and group 3 (G3, N = 12), patients with other specific temporal lesions. A review of 1732 records of children with epilepsy revealed 31 cases with TLE (relative frequency of 1.79%). However, when the investigation was narrowed to cases with intractable seizures that needed video-EEG monitoring (N = 68) or epilepsy surgery (N = 32), the relative frequency of TLE increased to 19.11 (13/68) and 31.25% (10/32), respectively. At the beginning of the study, 25 of 31 patients had a high seizure frequency (80.6%), which declined to 11 of 31 (35.5%) at the conclusion of the study, as a consequence of pharmacological and/or surgical therapy. This improvement in seizure control was significant in G1 (P < 0.05) and G3 (P < 0.01) mainly due to good postsurgical outcome, and was not significant in G2 (P > 0.1, McNemar's test). These results indicate that the relative frequency of TLE in children was low, but increased considerably among cases with pharmacoresistant seizures. Patients with specific lesions were likely to undergo surgery, with good postoperative outcomes.
Asunto(s)
Epilepsia del Lóbulo Temporal/patología , Hipocampo/patología , Lóbulo Temporal/patología , Atrofia , Niño , Preescolar , Electroencefalografía/métodos , Epilepsia del Lóbulo Temporal/cirugía , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Periodo Posoperatorio , Estudios Retrospectivos , Resultado del Tratamiento , Grabación en VideoRESUMEN
BACKGROUND: Mesial temporal lobe epilepsy related to hippocampal sclerosis (MTLE-HS) is the most common surgically remediable epileptic syndrome. Ablation of the cellular prion protein (PrP(c)) gene (PRNP) enhances neuronal excitability of the hippocampus in vitro and sensitivity to seizure in vivo, indicating that PrP(c) might be related to epilepsy. OBJECTIVE: To evaluate the genetic contribution of PRNP to MTLE-HS. METHODS: The PRNP coding sequence of DNA from peripheral blood cells of 100 consecutive patients with surgically treated MTLE-HS was compared to that from a group of healthy controls adjusted for sex, age, and ethnicity (n = 180). The presence of PRNP variant alleles was correlated with clinical and presurgical parameters as well as surgical outcome. RESULTS: A variant allele at position 171 (Asn-->Ser), absent in controls, was found in heterozygosis (Asn171Ser) in 23% of patients (p < 0.0001). The PRNP genotypes were not correlated with any clinical or presurgical data investigated. However, patients carrying the Asn171Ser variant had a five times higher chance of continuing to have seizures after temporal lobectomy (95% CI 1.65 to 17.33, p = 0.005) than those carrying the normal allele. At 18 months after surgery, 91.8% of patients with the normal allele at codon 171 were seizure free, in comparison to 68.2% of those carrying Asn171Ser (p = 0.005). CONCLUSIONS: The PRNP variant allele Asn171Ser is highly prevalent in patients with medically untreatable MTLE-HS and influences their surgical outcome. The results suggest that the PRNP variant allele at codon 171 (Asn171Ser) is associated with epileptogenesis in MTLE-HS.
Asunto(s)
Epilepsia del Lóbulo Temporal/fisiopatología , Epilepsia del Lóbulo Temporal/cirugía , Variación Genética/genética , Priones/genética , Esclerosis/genética , Adulto , Sustitución de Aminoácidos , Química Encefálica , ADN/análisis , Supervivencia sin Enfermedad , Epilepsia del Lóbulo Temporal/complicaciones , Etnicidad/estadística & datos numéricos , Femenino , Frecuencia de los Genes , Hipocampo/patología , Humanos , Imagen por Resonancia Magnética , Masculino , Oportunidad Relativa , Esclerosis/complicaciones , Esclerosis/patología , Distribución por Sexo , Resultado del TratamientoRESUMEN
A hiperglicinemia näo cetótica é erro inato do metabolismo que se manifesta por crises epilépticas de difícil controle desde os primeiros dias de vida, em recém-nascido hipotônico. A falta da enzima que catalisa a conversäo de glicina em ácido hidroximetiltetra-hidrofólico, dióxido de carbono e amônia, no fígado e no cérebro, resulta em aumento da concentraçäo de glicina no sangue. Neste estudo é relatado caso de hiperglicinemia diagnosticado no período neonatal e caracterizado por hipotonia e múltiplas convulsöes näo controláveis. Os achados clínicos e eletrencefalográficos, aspectos do tratamento e do estudo anátomo-patológico säo comentados