Arterial ischemic stroke in non-neonate children: Diagnostic and therapeutic specificities

Pediatric arterial ischemic stroke (AIS) is a severe condition, with long-lasting devastating consequences on motor and cognitive abilities, academic and social inclusion, and global life projects. Awareness about initial symptoms, implementation of pediatric stroke code protocols using MRI first and only and adapted management in the acute phase, individually tailored recanalization treatment strategies, and multidisciplinary rehabilitation programs with specific goal-centered actions are the key elements to improve pediatric AIS management and outcomes. The main cause of pediatric AIS is focal cerebral arteriopathy, a condition with unilateral focal stenosis and time-limited course requiring specific management. Sickle cell disease and moyamoya angiopathy patients need adapted screening and therapeutics

Quality of life and functional outcome in early school-aged children after neonatal stroke: A prospective cohort study

Background Quality of life (QoL) is recognized internationally as an efficient tool for evaluating health interventions. To our knowledge, QoL has not been specifically assessed in children after neonatal arterial ischemic stroke (AIS). Aim To study the QoL of early school-aged children who suffered from neonatal AIS, and QoL correlation to functional outcome. Method We conducted a multicenter prospective cohort study as part of a larger study in full-term newborns with symptomatic AIS. Participating families were sent anonymous QoL questionnaires (QUALIN). Functional outcome was measured using the Wee-FIM scale. Healthy controls in the same age range were recruited in public schools. Their primary caregivers filled in the QUALIN questionnaires anonymously. We used Student\u27s t-test and a rank test to compare patients and controls\u27 QoL and functional outcomes. Results 84 children with neonatal AIS were included. The control group was composed of 74 children, of which ten were later excluded due to chronic conditions. Mean ages and QUALIN median scores did not differ between patients and controls. Median Wee-FIM scores were lower in hemiplegic children than in non-hemiplegic ones (p < 0.001). QoL scores did not seem correlated to functional outcome. Interpretation Those results could support the presence of a “disability paradox” in young children following neonatal AIS

Apraxia of speech and cerebellar mutism syndrome: a case study

Background Cerebellar mutism syndrome (CMS) or posterior fossa syndrome (PFS) consists of a constellation of neuropsychiatric, neuropsychological and neurogenic speech and language deficits. It is most commonly observed in children after posterior fossa tumor surgery. The most prominent feature of CMS is mutism, which generally starts after a few days after the operation, has a limited duration and is typically followed by motor speech deficits. However, the core speech disorder subserving CMS is still unclear. Case presentation This study investigates the speech and language symptoms following posterior fossa medulloblastoma surgery in a 12-year-old right-handed boy. An extensive battery of formal speech (DIAS = Diagnostic Instrument Apraxia of Speech) and language tests were administered during a follow-up of 6 weeks after surgery. Although the neurological and neuropsychological (affective, cognitive) symptoms of this patient are consistent with Schmahmann’s syndrome, the speech and language symptoms were markedly different from what is typically described in the literature. In-depth analyses of speech production revealed features consistent with a diagnosis of apraxia of speech (AoS) while ataxic dysarthria was completely absent. In addition, language assessments showed genuine aphasic deficits as reflected by distorted language production and perception, wordfinding difficulties, grammatical disturbances and verbal fluency deficits. Conclusion To the best of our knowledge this case might be the first example that clearly demonstrates that a higher level motor planning disorder (apraxia) may be the origin of disrupted speech in CMS. In addition, identification of non-motor linguistic disturbances during follow-up add to the view that the cerebellum not only plays a crucial role in the planning and execution of speech but also in linguistic processing. Whether the cerebellum has a direct or indirect role in motor speech planning needs to be further investigated

Accident vasculaire cérébral périnatal : nosographie, présentation clinique, pathogénie, facteurs de risque et génétique

L’accident vasculaire cérébral (AVC) regroupe six catégories nosologiques qui diffèrent par leurs causes et mécanismes, leur temporalité et mode de présentation clinique et l’évolution. Par définition, l’AVC néonatal– lui-même divisé en infarctus cérébral artériel néonatal, thrombose néonatale des sinus et des veines cérébraux, et hémorragie cérébrale primitive – se manifeste dans les 28 premiers jours de vie par des convulsions ou d’autres signes d’agression cérébrale néonatale : apnée, léthargie, hypotonie, bombement de la fontanelle… Par contraste, les signes de l’AVC présumé périnatal (artériel ou veineux, ischémique ou hémorragique) ne se manifestent qu’après plusieurs mois ou années par une déficience motrice, un trouble du développement ou des crises d’épilepsie. L’IRM permet caractérisation de l’AVC. Nombre d’éléments suggèrent que l’infarctus cérébral artériel néonatal et l’infarctus cérébral artériel présumé périnatal d’une part et l’hémorragie cérébrale primitive néonatale et l’hémorragie cérébrale présumée périnatale d’autre part, représentent les mêmes entités qui diffèrent simplement par la temporalité de leur présentation (ou de leur reconnaissance) clinique. Hormis certaines circonstances bien identifiées (méningite, cardiopathie, diathèse hémorragique, etc.), le mécanisme reste souvent indéterminé. On retrouve cependant les facteurs de risque communs à la pathologie néonatale : nulliparité, chorioamniotite, asphyxie perpartum… Mais le déterminant final qui conduit à l’AVC reste souvent non identifié : origine multifactorielle. Les soins aigus reposent sur le maintien de l’homéostasie. Les crises d’épilepsie sont souvent maîtrisées durant la période néonatale par une monothérapie antiépileptique, voire cèdent spontanément. L’anticoagulation est discutée pour certaines thromboses veineuses. Une majorité d’enfants gardent des séquelles.Perinatal stroke encompasses six classical disease-states with diverse causality, mechanism, time of onset, mode of presentation and outcome. By definition, neonatal stroke – divided into neonatal arterial ischemic stroke, neonatal cerebral sino-venous thrombosis and neonatal primary haemorrhagic stroke – manifests in the first 28 days of life with seizures or others features of neonatal encephalopathy: apnoea, lethargy, hypotonia, bulging fontanelle… In contrast, for children with presumed perinatal (arterial or venous) ischemic or haemorrhagic stroke, i.e. whose onset is undetermined, signs become apparent only beyond the neonatal period, most often with motor asymmetry, milestones delay or seizures. Acute or remote MRI defines the type of stroke. Growing evidence suggests that, on the one hand presumed perinatal arterial ischemic stroke and neonatal arterial ischemic stroke, and on the other hand presumed perinatal haemorrhagic stroke and neonatal haemorrhagic stroke, represent the same pathophysiological entities and differ only by the timing of clinical presentation or diagnosis. Eventually, this would reduce to only four main categories of perinatal stroke. Except in some specific and well-identified circumstances (meningitis, cardiopathy, haemorrhagic diathesis…), the specific mechanism of stroke is unknown. However, many determinants are recognized and common among the diverse categories of perinatal stroke (and neonatal conditions/diseases as a whole): first pregnancy, chorioamnionitis, perpartum asphyxia… accounting for a multifactorial aetiology. Nevertheless, the final pathway leading to stroke remains largely undefined. Acute care relies on homeostatic maintenance. Seizures are often self-limited and antiepileptic drugs shoul be discontinued before discharge. Anticoagulation for a few weeks is an option in some cases of sino-venous thrombosis. Many children develop mild to moderate multimodal developmental issues which require a multidisciplinary approach

Moyamoya disease and syndromes: from genetics to clinical management

Stéphanie Guey,1,3 Elisabeth Tournier-Lasserve,1,2 Dominique Hervé,1,3 Manoelle Kossorotoff4 1Inserm UMR-S1161, Université Paris 7 Denis Diderot, Sorbonne Paris Cité, Paris, France; 2AP-HP, Groupe hospitalier Lariboisière-Saint-Louis, Service de génétique neurovasculaire, Paris, France; 3Service de Neurologie, Centre de Référence des maladies Vasculaires Rares du Cerveau et de l'Œil (CERVCO), Groupe Hospitalier Saint-Louis Lariboisière-Fernand Widal, Assistance Publique-Hôpitaux de Paris, Paris, France; 4Pediatric Neurology Department, French Center for Pediatric Stroke, University Hospital Necker-Enfants Malades, AP-HP Assistance publique-Hôpitaux de Paris, Paris, France Abstract: Moyamoya angiopathy is characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of a network of abnormal collateral vessels. This chronic cerebral angiopathy is observed in children and adults. It mainly leads to brain ischemic events in children, and to ischemic and hemorrhagic events in adults. This is a rare condition, with a marked prevalence gradient between Asian countries and Western countries. Two main nosological entities are identified. On the one hand, moyamoya disease corresponds to isolated moyamoya angiopathy, defined as being “idiopathic” according to the Guidelines of the Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis. This entity is probably multifactorial and polygenic in most patients. On the other hand, moyamoya syndrome is a moyamoya angiopathy associated with an underlying condition and forms a very heterogeneous group with various clinical presentations, various modes of inheritance, and a variable penetrance of the cerebrovascular phenotype. Diagnostic and evaluation techniques rely on magnetic resonance imaging (MRI), magnetic resonance angiography (MRA) conventional angiography, and cerebral hemodynamics measurements. Revascularization surgery can be indicated, with several techniques. Characteristics of genetic moyamoya syndromes are presented, with a focus on recently reported mutations in BRCC3/MTCP1 and GUCY1A3 genes. Identification of the genes involved in moyamoya disease and several monogenic moyamoya syndromes unraveled different pathways involved in the development of this angiopathy. Studying genes and pathways involved in monogenic moyamoya syndromes may help to give insights into pathophysiological models and discover potential candidates for medical treatment strategies. Keywords: moyamoya disease, moyamoya syndrome, stroke, surgical revascularization, genetic