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.
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.
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.
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.
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.
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