Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series.

OBJECTIVES: To characterize a suggestive prenatal imaging pattern of Aicardi syndrome using ultrasound and MR imaging. METHODS: Based on a retrospective international series of Aicardi syndrome cases from tertiary centers encountered over a 20-year period (2000-2020), we investigated the frequencies of the imaging features in order to characterize an imaging pattern highly suggestive of the diagnosis. RESULTS: Among 20 cases included, arachnoid cysts associated with a distortion of the interhemispheric fissure were constantly encountered associated with complete or partial agenesis of the corpus callosum (19/20, 95%). This triad in the presence of other CNS disorganization, such as polymicrogyria (16/17, 94%), heterotopias (15/17, 88%), ventriculomegaly (14/20, 70%), cerebral asymmetry [14/20, 70%]) and less frequently extra-CNS anomaly (ocular anomalies [7/11, 64%], costal/vertebral segmentation defect [4/20, 20%]) represent a highly suggestive pattern of Aicardi syndrome in a female patient. CONCLUSION: Despite absence of genetic test to confirm prenatal diagnosis of AS, this combination of CNS and extra-CNS fetal findings allows delineation of a characteristic imaging pattern of AS, especially when facing dysgenesis of the corpus callosum.

Amplitude-integrated electroencephalography for neonatal seizure detection. An electrophysiological point of view.

Seizures in the newborn are associated with high morbidity and mortality, making their detection and treatment critical. Seizure activity in neonates is often clinically obscured, such that detection of seizures is particularly challenging. Amplitude-integrated EEG is a technique for simplified EEG monitoring that has found an increasing clinical application in neonatal intensive care. Its main value lies in the relative simplicity of interpretation, allowing nonspecialist members of the care team to engage in real-time detection of electrographic seizures. Nevertheless, to avoiding misdiagnosing rhythmic artifacts as seizures, it is necessary to recognize the electrophysiological ictal pattern in the conventional EEG trace available in current devices. The aim of this paper is to discuss the electrophysiological basis of the differentiation of epileptic seizures and extracranial artifacts to avoid misdiagnosis with amplitude-integrated EEG devices.

Amplitude-integrated electroencephalography for neonatal seizure detection. An electrophysiological point of view / Electroencefalograma integrado por amplitud para la detección de convulsiones neonatales. Un punto de vista electrofisiológico

ABSTRACT Seizures in the newborn are associated with high morbidity and mortality, making their detection and treatment critical. Seizure activity in neonates is often clinically obscured, such that detection of seizures is particularly challenging. Amplitude-integrated EEG is a technique for simplified EEG monitoring that has found an increasing clinical application in neonatal intensive care. Its main value lies in the relative simplicity of interpretation, allowing nonspecialist members of the care team to engage in real-time detection of electrographic seizures. Nevertheless, to avoiding misdiagnosing rhythmic artifacts as seizures, it is necessary to recognize the electrophysiological ictal pattern in the conventional EEG trace available in current devices. The aim of this paper is to discuss the electrophysiological basis of the differentiation of epileptic seizures and extracranial artifacts to avoid misdiagnosis with amplitude-integrated EEG devices.

RESUMO Las convulsiones neonatales están asociadas a una alta morbi-mortalidad por lo que su correcto diagnóstico y tratamiento es fundamental. Las convulsiones en los recién nacidos son frecuentemente subclínicas lo que hace que su detección sea dificultosa. La electroencefalografía integrada por amplitud es una técnica de monitoreo electroencefalográfico simplificado que ha encontrado una creciente aplicación clínica en las unidades de terapia intensiva neonatales. Su principal ventaja es la relativa simplicidad de su interpretación lo que permite a personal no especializado del equipo neonatal diagnosticar convulsiones electrográficas en tiempo real. Sin embargo, para evitar diagnosticar erróneamente artefactos rítmicos como crisis epilépticas es necesario reconocer los patrones electrofisiológicos ictales en el EEG convencional disponible en los dispositivos actuales. El objetivo de este artículo es describir las bases electrofisiológicas para la diferenciación de convulsiones neonatales y artefactos extracraneanos para evitar errores diagnósticos con el uso de EEG integrado por amplitud.

Foetal Magnetic Resonance Images of Two Cases of Aicardi Syndrome.

Cerebral malformations are of fundamental importance in the clinical diagnosis of Aicardi Syndrome (AS). Some of these anomalies like callosal agenesis, cysts formation, posterior fossa anomalies and gross interhemispheric asymmetry are easily observed in the prenatal period with the use of foetal Magnetic Resonance Images (MRI). We present two cases of female newborns with cerebral MRI performed in the prenatal period and further diagnosed with AS. With the increase use of foetal MRI, AS will be easier suspected in the prenatal period in a female fetus with typical brain anomalies.

Hipotermia terapéutica: programa para prevención del daño neurológico de la encefalopatía hipóxico isquémica en Buenos Aires / THERAPEUTIC HYPOTHERMIA: A MODEL TO PREVENT NEUROLOGIC DAMAGE BY ISCHEMIC HIPOXIC ENCEPHALOPATHY

Introducción: La hipotermia terapéutica (HT) es el estándar de cuidado para la encefalopatía hipóxico-isquémica (EHI). El servicio de neonatología implemento el programa de HT en el marco de la red perinatal de la Ciudad de Buenos Aires (RPCABA). Objetivos: Describir la implementación del programa de hipotermia en RPCABA. Reportar la mortalidad, complicaciones y efectos adversos asociados al tratamiento. Métodos: La implementación del programa se realizó en etapas: 1) 2009- 2010 Capacitación y entrenamiento en el uso del equipamiento. 2) 2010 hasta la actualidad: Tratamiento y seguimiento para los pacientes con EHI moderada o grave. Resultados: Hasta Marzo de 2017, 65 neonatos recibieron HT (7 con hipotermia corporal total y los 58 restantes hipotermia activa selectiva), 49 paciente fueron clasificados según la Escala Sarnat & Sarnat como EHI moderada y 16 como EHI grave. Conclusiones: Fue factible implementar el programa en nuestra unidad, auditarlo para mejorarlo y sostenerlo en el tiempo. El sistema de traslado pudo responder ante la activación del "código de hipotermia", cumpliendo tiempos, sosteniendo el tratamiento y el monitoreo adecuado. Creemos necesario mejorar la identificación de neonatos con diagnóstico de EHI en RPCABA. Se necesita nueva capacitación para evitar el subdiagnóstico de esta patología en los centros de nivel 2

Therapeutic hypothermia (TH) is nowadays the gold standard of care for the treatment of hypoxic- ischemic encephalopathy (HIE) in developed countries. The term encephalopathy refers to a diffuse disturbance of brain function, resulting in behavioral changes, altered consciousness or seizures. The brain is particularly vulnerable to even brief interruptions of blood flow or oxygen supply. If the brain´s oxygen supply is insufficient, consciousness is lost rapidly. If oxygenation is restored immediately, consciousness returns without sequelae. However, if oxygen deprivation lasts longer than 1 or 2 minutes, signs of an encephalopathy may persists for hours or permanently. Total ischemic anoxia lasting longer than about 4 minutes usually results in severe irreversible brain damage. The aim of the present report was to describe the implementation of the hypothermia program in a model for the perinatal system at the City of Buenos Aires, with the equipment Cool Cap® for selective hypothermia, and the equipment CFM Olympic 6000® and CFM OMB from Medix® by Natus®, these two to monitoreate the cerebral function. The results obtained are referred, with special consideration to mortality, complications and adverse effects associated with the treatment.

Preferencia manual precoz: signo de alarma de accidente cerebrovascular perinatal. Serie de casos / Early handedness: Warning sign of perinatal stroke. Case series

Accidente cerebrovascular presuntamente perinatal es la expresión utilizada para los casos en los que se diagnostica un accidente cerebrovascular antiguo por sus secuelas y no por la sintomatología aguda. Muchos accidentes cerebrovasculares presuntamente perinatales tienen como primera manifestación una hemiparesia congénita, la cual se hace notoria entre el cuarto y el octavo mes de vida como preferencia manual precoz. Es por esto por lo que la preferencia manual clara y persistente desarrollada antes del año de vida debe asumirse como un signo de alarma de una probable secuela motora. En este trabajo, revisamos la historia clínica de 15 casos de accidente cerebrovascular presuntamente perinatal para evaluar la edad en la que la consulta derivó en el diagnóstico, el motivo de consulta y la edad de desarrollo de la preferencia manual.

Presumed perinatal ischemic stroke is the term used for cases in which an old stroke is diagnosed by the consequences of it and not by the acute symptoms. Many presumed perinatal ischemic strokes have congenital hemiparesis as the first manifestation, which is usually noticed between the fourth and eighth month of life as early hand preference. That is why the clear and persistent handedness developed before one year of age must be assumed as a warning sign of probable motor sequelae. In this paper we review the medical records of 15 cases of presumed perinatal ischemic stroke to assess the age at which the consultation led to the diagnosis, reason for consultation and age at development of handedness.

[Early handedness: Warning sign of perinatal stroke. Case series]. / Preferencia manual precoz: signo de alarma de accidente cerebrovascular perinatal. Serie de casos.

Presumed perinatal ischemic stroke is the term used for cases in which an old stroke is diagnosed by the consequences of it and not by the acute symptoms. Many presumed perinatal ischemic strokes have congenital hemiparesis as the first manifestation, which is usually noticed between the fourth and eighth month of life as early hand preference. That is why the clear and persistent handedness developed before one year of age must be assumed as a warning sign of probable motor sequelae. In this paper we review the medical records of 15 cases of presumed perinatal ischemic stroke to assess the age at which the consultation led to the diagnosis, reason for consultation and age at development of handedness

Accidente cerebrovascular presuntamente perinatal es la expresión utilizada para los casos en los que se diagnostica un accidente cerebrovascular antiguo por sus secuelas y no por la sintomatología aguda. Muchos accidentes cerebrovasculares presuntamente perinatales tienen como primera manifestación una hemiparesia congénita, la cual se hace notoria entre el cuarto y el octavo mes de vida como preferencia manual precoz. Es por esto por lo que la preferencia manual clara y persistente desarrollada antes del año de vida debe asumirse como un signo de alarma de una probable secuela motora. En este trabajo, revisamos la historia clínica de 15 casos de accidente cerebrovascular presuntamente perinatal para evaluar la edad en la que la consulta derivó en el diagnóstico, el motivo de consulta y la edad de desarrollo de la preferencia manual

Implementation in Buenos Aires City of a program to prevent neurological damage caused by hypoxic-ischemic encephalopathy: Therapeutic hypothermia.

Therapeutic hypothermia is the standard of care for hypoxic-ischemic encephalopathy (HIE). This treatment was implemented at a regional level by the perinatal network of the City of Buenos Aires. The following are the objectives of this article: 1. To describe the implementation of the network's hypothermia treatment program; 2. To report treatment-associated complications, adverse events and mortality. The program was implemented in stages: 1) 2009-2010. Training and instruction on how to use the equipment. 2) 20102014. Treatment and follow-up of patients with moderate or severe HIE. Up to October 2014, 27 newborn infants received hypothermia treatment with moderate (n= 15) and severe (n= 12) HIE. None of the patients died during treatment. Three newborn infants were lost to follow-up. Among the 16 survivors older than one year old, three have severe neurological disability. Program implementation was plausible. It is imperative to train health care providers on how to identify patients with HIE.

Presumed perinatal ischemic stroke: A review.

The risk of stroke is actually highest during the perinatal period. However, some newborn infants may have no signs indicative of the need of brain imaging, or brain images taken may not be sensitive enough to diagnose ischemic injuries; so, the diagnosis of stroke may be delayed several months or years. The neurological picture in patients with perinatal stroke detected through neuroimaging months or years after the neonatal period is called presumed perinatal ischemic stroke. Although a presumed perinatal ischemic stroke is just a confirmation of the existence of an important level of underdiagnosis in relation to perinatal stroke, establishing the extent of this condition has allowed to improve knowledge on perinatal ischemic vascular disease.

Consequences of partial and severe dopaminergic lesion on basal ganglia oscillatory activity and akinesia.

Severe chronic dopamine (DA) depletion increases the proportion of neurons in the basal ganglia that fire rhythmic bursts of action potential (LFO units) synchronously with the cortical oscillations. Here we report on how different levels of mesencephalic DA denervation affect substantia nigra pars reticulata (SNpr) neuronal activity in the rat and its relationship to akinesia (stepping test). Chronic nigrostriatal lesion induced with 0 (control group), 4, 6 or 8 microg of 6-hydroxydopamine (6-OHDA) into the medial forebrain bundle resulted in a dose-dependent decrease of tyrosine hydroxylase positive (TH+) neurons in the SN and ventral tegmental area (VTA). Although 4 microg of 6-OHDA reduced the number of TH+ neurons in the SN by approximately 60%, both stepping test performance and SNpr neuronal activity remained indistinguishable from control animals. By contrast, animals that received 6 microg of 6-OHDA showed a marked reduction of TH+ cells in the SN ( approximately 75%) and VTA ( approximately 55%), a significant stepping test deficit and an increased proportion of LFO units. These changes were not dramatically enhanced with 8 microg 6-OHDA, a dose that induced an extensive DA lesion (> 95%) in the SN and approximately 70% reduction of DA neurons in the VTA. These results suggest a threshold level of DA denervation for both the appearance of motor deficits and LFO units. Thus, the presence of LFO activity in the SNpr is not related to a complete nigrostriatal DA neuron depletion (ultimate stage parkinsonism); instead, it may reflect a functional disruption of cortico-basal ganglia dynamics associated with clinically relevant stages of the disease.