We report the case of a previously healthy newborn who developed super‐refractory status epilepticus after Group B streptococcal meningoencephalitis. After administration of first‐, second‐ and third‐line anticonvulsants without resolution of status epilepticus, we started intravenous lacosamide as adjunctive therapy to phenobarbital, phenytoin and continuous infusion of ketamine and midazolam. After administration of lacosamide, we observed a clear‐cut improvement in the neurological clinical condition coupled with seizure control on continuous video‐EEG monitoring, even after suspension of all other medications except for phenobarbital. No adverse effects ascribable to lacosamide were reported. The available data regarding the use of lacosamide for status epilepticus in adults and children are promising, although there is as yet only anecdotal evidence for neonatal status epilepticus. Its lack of potential interactions, good tolerability and the option of intravenous use lend to its appeal as treatment for status epilepticus. To the best of our knowledge, this is one of the first reported cases of effective lacosamide infusion in neonatal‐onset super‐refractory status epilepticus. This evidence should prompt further investigation on efficacy and safety of lacosamide to support its use in this population.

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Background Cardiac disorders are the second leading cause of pediatric arterial ischemic stroke (AIS). Limited literature is available on pediatric AIS caused by cardiac myxoma, a rare tumor in childhood. Methods We describe a new case of pediatric AIS due to a previously unknown atrial myxoma and we conduct a literature review on children with AIS due to cardiac myxoma. Results We identified 41 published pediatric cases of AIS and cardiac myxoma, including ours (56% males, median age at AIS was 11 years [range: 3–18]). AIS presentation was most frequently with hemiparesis/hemiplegia (89%). Multiple brain ischemic lesions were detected in 69% of patients, and arteriopathy in 91%. Seven patients underwent mechanical thrombectomy. At AIS presentation, 73% of children had one or more of the following clinical symptoms/signs suggesting a possible underlying cardiac myxoma: Carney's complex, cardiac auscultation abnormalities, extraneurological symptoms/signs, such as skin signs (12, 38, and 65%, respectively). Cardiac myxoma was diagnosed within 72 hours in 68% of cases. Death occurred in 11%, and 40% had persistent neurological deficits. Conclusion Neurological presentation of AIS due to cardiac myxoma is similar to that of AIS with other etiologies, although clues suggesting a possible underlying cardiac myxoma can be detected in most cases. A timely diagnosis of cardiac myxoma in patients with AIS may favor prompt identification of candidates for endovascular therapy. Therefore, we suggest that in otherwise-healthy children presenting with AIS, transthoracic echocardiography should be performed early after stroke presentation.

IntroductionThrombotic events in neonates and children represent a rare although severe occurrence in view of the associated risk of mortality and sequelae. Quality evidence is limited in this field, and registry studies provide an essential base for research. The aim of this paper is to present the new Italian Registry of Infantile Thrombosis (RITI), set it into the scene of international thrombosis and stroke registries, and provide some insight on the challenges associated with registry management.MethodsWe present the detailed structure and content of the new RITI registry, a brief overview of its main data, and a reflection on its features, pitfalls and the main challenges related to its management.ResultsThe RITI, initially started in 2007 and officially re-launched in 2017 after structural modifications, is a non-interventional retrospective and prospective registry study collecting data on neonatal and pediatric patients (0–18 years) who experienced a systemic or cerebral thrombotic event in Italy. The RITI is managed by a multidisciplinary team with expertise in pediatric thrombosis, and participation is open to all Italian physicians, on a voluntary basis. The overall aim of the registry is to acquire new evidence to better characterize the population of children with thrombotic events and improve their management and outcome. 48 Italian pediatric and intensive care units are actively involved in the RITI, including 85 medical doctors from 16 Italian regions. A total of 1,001 neonates and children affected by cerebral or systemic thrombosis have been enrolled.DiscussionThe RITI is one of the largest available European registries of neonatal and pediatric thrombosis. National registries like the RITI represent a model for the study of rare conditions based on multidisciplinary and multicenter collaboration, aimed at overcoming the limitations due to small populations of patients, and creating a network of experts for patient referral and continuous education. Moreover, registry studies have a pivotal role in the research on pediatric thrombosis, due to the limited feasibility of high-quality studies. In our experience, the main critical stages, pitfalls and challenges in registry management include adequate registry designing, diffusion, data completeness and quality control.

Introduction In Italy, long-term outcomes of esophageal atresia (EA) are poorly understood. The Italian Association ‘Family with Esophageal Atresia’ (F.AT.E.) and Tages Onlus, and some Italian pediatric centers of reference for AE, collaborated to define the first work about long-term outcomes and quality of life (QoL) in a cohort of Italian adults and young adults born with AE. As a rare disease, given the specificity of the reference population and the absence of similar research, this study was in any case designed to be a pilot study. Methods To date, 65 adults born with EA have participated in completing the questionnaire. Two survey formats were created: (i) a standard paper questionnaire and (ii) an online platform. The questionnaire included the following tools: (i) socio-personal data; (ii) QoL questionnaire (SF-36); (iii) a sub-battery of short questionnaires to investigate psychological adaptation to chronic diseases (HADS, IES-R, Brief-COPE); (iv) a questionnaire linked to the specific perception of social support (MOS-SSQ); and (v) four open questions developed to investigate the subjective experience of QoL and long-term morbidity. The use of quantitative and qualitative data (Mixed Methods) will allow us to deeply investigate the experience and perceptions related to the QoL. Results Our results indicated that AE type C is the most frequent, and the renal ones are the most common malformations associated with AE. According to the dysphagia score, more than half are suffering states of dysphagia. A significant negative statistical association emerges between the presence of dysphagia and perception of social support (MOSS-SSS). Gastroesophageal reflux symptoms are reported by more than half, in association with antireflux medications. At last, it emerges that the main psychological factors accused are sleep disorders and obsessive-compulsiveness symptoms. Conclusions Despite this study confirming that the frequency of respiratory, gastrointestinal, and musculoskeletal symptoms affects the QoL, it appears generally good. The information provided by this study could be an incentive to implement and improve long-term follow-up programs and to involve more specialist adult doctors in the care of these patients.