Objective: To review the literature relevant to diagnosis and management of meningococcal disease (MD).Sources: Non-systematic review of medical literature through the MEDLINE database using the terms meningococcal, septic shock, diagnosis, and treatment. Articles were selected according to their relevance to the objective of the study and according to the authors' opinion. Summary of the findings:MD is a leading cause of death due to infection in children. It progresses rapidly and a high level of suspicion is necessary for early diagnosis. Early intervention with aggressive fluid resuscitation and

ResumoObjetivo: Revisar a literatura pertinente ao diagnóstico e tratamento de doença meningocócica (DM). Fontes dos dados:Revisão não-sistemática da literatura médica através de busca na base de dados MEDLINE usando os seguintes termos: meningocócico, choque séptico, diagnóstico, e tratamento. Os artigos foram selecionados de acordo com sua relevância para o objetivo do trabalho e de acordo com a opinião dos autores. Síntese dos dados:A DM é uma das principais causas de morte em crianças, devido à infecção. Ela progride rapidamente e é preciso um alto grau de suspeita para se estabelecer o diagnóstico precocemente. Sources: Non-systematic review of medical literature through the MEDLINE database using the terms meningococcal, septic shock, diagnosis, and treatment. Articles were selected according to their relevance to the objective of the study and according to the authors' opinion. Summary of the findings:MD is a leading cause of death due to infection in children. It progresses rapidly and a high level of suspicion is

In 2006, paediatric intensive care-related subjects were discussed in a number of papers published in various journals, including Critical Care. Because they focused on the cardiovascular system and its support, we summarize them here. In particular, these papers highlighted the management of refractory septic shock, extracorporeal support, outcome markers in sepsis, and outcome after cardiac arrest. IntroductionIn 2006, the paediatric intensive care (PIC) cardiovascularrelated subjects that were discussed in Critical Care included sepsis, viral infection, extracorporeal circulatory support, and outcome after cardiopulmonary arrest. Sepsis TreatmentIn children, death and morbidity from sepsis and septic shock are particular problems [1]. Hypotensive, catecholamineresistant shock is increasingly recognized as a cause of death in the post-resuscitation period. Arginine-vasopressin (AVP) and terlipressin (TP) are capable of improving blood pressure but not without adverse effects such as limb gangrene [2][3][4][5][6]. The action of AVP is mediated via two receptors, vascular V1, leading to arterial vasoconstriction, and renal tubular V2.Landry and colleagues [2] reported the beneficial effect of AVP in critically ill adults with septic shock resistant to inotropic therapy. AVP and TP have now been studied in both adults and children as rescue therapy for catecholamineresistant shock [2][3][4][5]7]. Meyer and colleagues [5] reported the use of AVP infusion in six extremely low birth weight (ELBW) infants with catecholamine-resistant shock. The patients were divided into two groups: (a) septic shock (two bacterial and one fungal) and (b) non-sepsis-induced shock. All patients presented with acute renal injury and were receiving norepinephrine/epinephrine (NE/E) and hydrocortisone. The three patients with septic shock showed improvement in blood pressure, urine output, and serum lactate level after starting AVP. In addition, the NE/E infusion doses could be reduced. There was one death in these three patients, and the AVP infusion was required for 70 ± 21 hours. In patients with non-sepsis-related shock, blood pressure and urine output improved during the first few hours of infusion, but this effect was not sustained. All three patients in this group died. The authors suggested that AVP may be of use in septic shock in the ELBW population. However, a question remains as to the mechanism of action of AVP and whether there is relative AVP deficiency in this population [4,8].TP, a synthetic analog of AVP with a longer half-life, was tested in a prospective, multicentre study reported by Rodríguez-Núñez and colleagues [4]. Critically ill children presenting with catecholamine-resistant septic shock in any of nine PIC units in Spain were enrolled for rescue therapy (TP 0.02 mg/kg, four times hourly). Sixteen children ages 1 month to 13 years (eight patients with meningococcal disease [MD], two patients with Staphylococcus aureus sepsis, and six cases with sepsis of unknown origin) were enrolled after being treated ...

Introduction: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), is a neurodegenerative autosomal recessive disease caused by TPP1 gene variants, with a spectrum of classic and atypical phenotypes. The aim of treatment is to slow functional decline as early as possible, improving quality of life and survival. This study describes the clinical characteristics as well as response to treatment with cerliponase alfa. Materials and Methods: A retrospective study was conducted in five Latin-American countries, based on clinical records from patients with CLN2. Clinical follow-up and treatment variables are described. A descriptive and bivariate statistical analysis was performed. Results: A total of 36 patients are reported with a mean age of symptom onset and time to first specialized consultation of 4.7±2.3 and 6±3.1 years, respectively. Seizures were the predominant symptom (80.6%). In a subgroup analysis, most patients with the classic phenotype exhibited regression in language (90%), while the patients with the atypical phenotype had seizures as the predominant symptom (87%). The mean age of symptom onset and time to first specialized consultation was 3.5±2.0 and 4.9±3.2 years, respectively, in patients with the classic phenotype and 6.2±1.8 and 7.5±2.4 in patients with the atypical phenotype. The mean time interval between onset of symptoms and treatment initiation was 3.8 years in patients with classic phenotype and 7.4 in patients with atypical phenotype. All patients were treated with cerliponase alfa, maintaining overall functional stability as compared to pretreatment values. Discussion and conclusion: This study reports at this time the largest number of patients with CLN2 in treatment with cerliponase alfa in the world. Data show a higher frequency of patients with atypical phenotype and a high allelic proportion of intron variants in our region. There was evidence of long intervals until first specialized consultation, diagnosis, and enzyme replacement therapy. Follow-up after the initiation of cerliponase alfa showed slower-to-no-progression of the disease, associated with adequate clinical outcomes and stable functional scores. These improvements were consistent in both clinical phenotypes.

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