Convulsiones neonatales: diagnóstico y manejo / Seizures in the newborn: diagnosis and management

El recién nacido convulsiona en un escenario multifactorial (parto labioroso, hipoxia, acidosis/hipercapnia, hipoglicemia, hipocalcemia, etc). Las convulsiones neonatales constituyen en sí un marcador de morbilidad neurológica, y la mayor o menor dificultad en controlarlas no solo dependerá de la etiología, además llevará implícito el pronóstico del desarrollo del niño. La mayoría de las veces se diagnostican y manejan a través de la mera observación clínica, pero hoy es muy conocida la importancia del aporte de la electroencefalografía con técnicas poligráficas del monitoreo video-EEG, lo cual es esencial para identificarlas mejor y reconocer las crisis electrográficas, que pueden tener solo cambios autonómicos a veces imperceptibles y que sin duda son una pieza fundamental en el pronóstico. Se revisan las bases neurobiológicas de las crisis y su clasificación para el manejo clínico. Se analizan las etiologías más relevantes, y se hace especial mención a los errores innatos del metabolismo, entregando pautas de manejo terapéutico

Enfermedad de los tics: síndrome de Gilles de la Tourette: características clínicas de 70 pacientes / Gilles de la Touretteïs syndrome: clinical review and analysis of 70 chilean patients

Background: Tourette's syndrome is a childhood-onset hereditary neurobehavioural disorder believed to occur without geographical restrictions. Although there have been reports of this disorder worldwide just a few are from Latin America. Aim: To report a preliminary experience with a series of 70 patients and to review recent advances in this disorder. Patients and Method: We reviewed patients seen in pediatric and adult neurological clinics in Santiago, Chile, all of whom fulfilled clinical diagnostic criteria for Tourette Syndrome. Results: Seventy patients were studied, 54 males (77.1 percent) and 16 females (22.8 percent), their mean age at first evaluation was 13.6 years (range 2-46). The mean age of onset of symptoms was 6.4 (range 2-20), the mean time of follow-up was 3 years. Fifty-eight patients showed simple motor tics (blinking, facial grimacing, shoulder shrugging), whereas dystonic tics like head jerking were seen in 38 patients, torticollis in 6 and oculogyric movements in 2. Complex motor tics like jumping, antics, trunk bending and head shaking were present in 16 subjects. Vocal tics were predominantly of the simple type: sniffing, throat clearing, blowing, and whistling. Complex vocal tics were seen in 12 patients, five cases showed palilalia, 3 echolalia and only six displayed coprolalia (8.5 percent). Tics were of mild to moderate severity in most patients. Obsessive-compulsive disorder was observed in 22.8 percent and attention deficit and hyperactivity disorder were present in 35.7 percent. Forty-five patients (64.2 percent) had a first degree relative with tics, nine patients (12.8 percent) had a family history of obsessive-compulsive disorder. The current evidence involving desinhibition of cortico-striatum-thalamic-cortical neuronal circuits in the pathogenesis of this disorder is analyzed. Conclusion: Our report supports the recognized clinical homogeneity and genetical basis of TouretteÕs syndrome regardless of geographical region and ethnic origin