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Background Arterial tortuosity syndrome (ATS) (OMIM #208050) is a very rare autosomal recessive connective tissue disease characterized by elongation, tortuosity, and predisposition of aneurysms formation in medium and large-caliber arteries, vascular dissection, and ischemic events. To date, approximately 100 patients have been reported carrying some of the fewer than 35 causal mutations in the SLC2A10 gene. Case presentation Here we present the clinical and molecular characterization of two new Spanish pediatric ATS patients from two unrelated families in the same city in a short period of time. Due to the knowledge of the pathology through the first case this pathology was suspected from birth in the second case, requesting the directed genetic study. Conclusion In addition to arterial tortuosity and connective tissue features, sequencing analysis revealed the homozygous and heterozygous Frameshift Deletion. Confirm diagnosis in the first few years of life is the most critical for possible life-threatening events and to offer adequate genetic counseling.

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ANTECEDENTES: La miocardiopatía dilatada es la causa principal de trasplante cardiaco en niños.CASO CLÍNICO: Paciente de 4 meses deedad que nació a las 29 semanas de gestación con miocardiopatía dilatada secundaria a infección por Bordetella pertussis. A  establecer el diagnóstico se encontraron factores pronóstico desfavorables (edad del paciente, cifra inicial elevada de proBNP y fracción de eyección del ventrículo izquierdo menor de 30%); sin embargo, después de seis meses de tratamiento inmunodulador, con ciclosporina y prednisona, tuvo evolución clínica adecuada.CONCLUSIONES: Si bien la miocardiopatía dilatada es una alteración que pone en riesgo la vida de los pacientes, la evolución y recuperación del paciente de este caso fue satisfactoria durante el primer año de seguimiento.

Presentación de casos clínicos RESUMEN La incidencia de enfermedad inflamatoria intestinal en la edad pediátrica se ha incrementado mundialmente en las últimas décadas. La forma de presentación puede ser diversa y, hasta en un 6-35 %, las manifestaciones extraintestinales pueden ser el debut; la artritis periférica es la más frecuente de estas. Una presentación atípica implica un retraso diagnóstico y, asociado a que el fenotipo de enfermedad inflamatoria intestinal es más grave en los niños, conlleva un incremento de las complicaciones intestinales y secuelas asociadas. Se presentan dos casos clínicos de enfermedad de Crohn cuya clínica inicial fue la claudicación de la marcha por una artritis periférica y una entesitis, respectivamente. Palabras clave: enfermedades inflamatorias intestinales, artritis periférica, entesitis, enfermedad de Crohn.

Introduction: Suspected preterm labor (SPL), defined as the presence of regular and painful uterine contractions and cervical shortening, represents a prenatal insult with potential long-term consequences. However, despite recent evidence demonstrating suboptimal neurodevelopment at 2 years in this population, it remains underestimated as a significant risk factor for neurodevelopmental disorders or other chronic diseases. The aim of this study is to assess the impact of suspected preterm labor during pregnancy on cardiometabolic profile and neurodevelopment during childhood (6–8 years). Methods and analysis: Prospective cohort study including children whose mothers suffered suspected preterm labour during pregnancy and paired controls. Neurodevelopmental, cardiovascular, and metabolic assessments will be performed at 6–8 years of age. A trained psychologist will carry out the neurodevelopment assessment including intelligence, visual perception, and behavioral assessment. Body composition and physical fitness assessment will be performed by one trained pediatrician and nurse. Finally, cardiovascular evaluation, including echocardiography and blood pressure, will be performed by two pediatric cardiologists. Data regarding perinatal and postnatal characteristics, diet, lifestyle, and weekly screen time of the child will be obtained from medical history and direct interviews with families. Primary outcome measures will include body mass index and adiposity, percentage of fat mass and total and regional lean mass, bone mineral content and density, cardiorespiratory resistance, isometric muscle strength, dynamic lower body strength, systolic and diastolic blood pressure, left ventricle (LV) systolic and diastolic function, general intelligence index, visuospatial working memory span, oculomotor control test, index of emotional, and behavioral problems.

Background Bronchopulmonary dysplasia (BPD) is still a major concern in preterm infants and adequate screening methods for secondary right ventricle (RV) failure are needed. Early detection could be aided by taking measurements of RV deformation using speckle tracking echocardiography. A prospective longitudinal study was carried out over 28 months at a tertiary care pediatric cardiology center. Preterm infants < 32 weeks gestational age (GA) were eligible for the study. Enrolled patients were separated in two groups: NO-BPD or BPD. At three timepoints over the first year of life, echocardiogram measurements were performed. Right ventricle strain was studied using speckle tracking analysis and compared to conventional function parameters. Results Fifty patients were enrolled in the study, 22 in the NO-BPD group and 28 in the BPD group. RV strain showed no statistical differences between groups. However, the BPD group showed worse RV function than the NO-BPD group, using speckle tracking analysis and other conventional parameters. During the study follow-up, an improvement trend is shown in RV strain. Conclusions RV longitudinal strain and strain rate derived by speckle tracking is feasible in preterm infants. Although there seems to be a good correlation between RV strain and BPD severity, the results of this study were not conclusive. More studies should be carried out to investigate the optimum echocardiographic screening model of RV dysfunction in BPD patients.