Cribado neonatal de drepanocitosis en Castilla y León: Estudio descriptivo / Neonatal screening of drepanocytosis in Castilla y Leon (Spain): a descriptive study

Introducción. La anemia falciforme es una enfermedad de herencia autosómica recesiva que constituye una de las alteraciones genéticas más frecuentes del noroeste de Europa. Las complicaciones secundarias en los pacientes homocigotos son frecuentes durante los primeros 3 años de vida, y debido a ello, desde el 12 de julio de 2017, se ha incluido dicha patología dentro de las enfermedades objetivo de cribado neonatal de Castilla y León (CyL). Con tal fin, se pretende detectar aquellos pacientes que se beneficiarán de un diagnóstico y tratamiento precoz. Objetivos. Calcular la incidencia de hemoglobinopatía S, C, D, E u otra cadena de hemoglobina anómala en todo recién nacido vivo en CyL desde el inicio del programa de cribado hasta el 12 deoctubre de 2018 (15 meses), determinando en los distintos pacientes el sexo, lugar de origen del padre y la madre, hospital de nacimiento y fenotipo encontrado. Material y métodos. Estudio retrospectivo y descriptivo de los pacientes con cribado neonatal de hemoglobinopatías patológico nacidos en la Comunidad Autónoma de Castilla y León, del 12 de julio de 2017 al 12 de octubre de 2018. La muestra de sangre se obtuvo de la prueba del talón realizada en las maternidades de forma sistemática, a partir de las 48 horas de vida del niño. Se analizó por cromatografía líquida de alta resolución (Bio-Rad VARIANTnbs System) en Laboratorio de Referencia de Valladolid, detectándose fenotipos S, C, D, E o asociados a cualquier otra cadena de hemoglobina anómala sin tipificar. Resultados. Se incluyeron en el estudio 18.998 recién nacidos durante ese periodo, con un total de 18.975 muestras analizadas (99,8%). Se detectaron un total de 94 muestras positivas, con 1 resultado coincidente con fenotipo FS (1/18.975), 61 para fenotipo FAS (1/311), 14 FAC (1/1.355), 2 FAD (1/9.487), 1 FC (1/18.975), 11 FAX (1/1.725), y 4 FAXX (1/4.743) (AU)

Introduction. Sickle cell disease is an autosomal recessive hereditary disease that constitutes one of the most frequent genetic alterations in the Northeast of Europe. The second ary complications in the homozygous patients are frequent during the first three years of life, and due to it, this condition has been included within the diseases targeted for neonatal screening of Castilla y Leon (CyL) since 12 July 2017. With that in mind, it is aimed to detect those patients who would benefit from and early diagnosis and treatment. Objectives. To calculate the incidence of hemoglobin diseases S, C, D, E or other abnormal hemoglobin chain, in all live newborn in CyL from the onset of the screening program until 12 October 2018 (15 months), determining gender, place of origin of the father and mother, hospital where born and phenotype found in the different patients. Material and methods. A retrospective and descriptive study of the patients with neonatal screening for pathological hemoglobin disease in the Regional Community of Castilla y León, from 17 July 2017 to 12 October 2018. The blood sample was obtained from the heel test conducted in the maternity wards systematically, beginning at 48 hours of life of the child. It was analyzed during rapid resolution liquid chromatography (Bio-Rad VARIANTnbs System) in the Reference laboratory of Valladolid, detecting the S, C, D, E or phenotypes or those associated to any other non-typified abnormal hemoglobin chain. Results. A total of 18,998 newborns were enrolled in the study during this period, with a total of 18,975 samples analyzed (99.8%). A total of 94 positive samples were detected, with 1 result coinciding with FS phenotype (1/18,975), 61 for FAS phenotype (1/311), 14 FAC (1/1,355), 2 FAD (1/9,487), 1 FC (1/18,975), 11 FAX (1/1,725), and 4 FAXX (1/4,743). No screening was conducted in 23 newborns out of all the children, due to death in the first hours or transfer prior to 48 hours of life (AU)

Fallo hepático agudo tras anestesia con sevoflurano en un paciente pediátrico / Acute liver failure after sevoflurane anesthesia in a pediatric patient

El sevoflurano es un anestésico volátil que se caracteriza por su baja toxicidad siendo el más utilizado en edad pediátrica. A diferencia de otros anestésicos inhalados halogenados, el sevoflurano no se metaboliza a productos intermedios que conducen a la formación de proteínas hepatotóxicas; sin embargo, algunos casos de hepatotoxicidad han sido atribuidos a su uso. Describimos el caso de un niño de 11 años que presentó fallo hepático agudo tras la intervención neuroquirúrgica de un tumor de fosa posterior, realizada bajo anestesia con sevoflurano asociado a otros fármacos. Durante el postoperatorio manifestó dolor abdominal y en la analítica sanguínea se observó marcada elevación de enzimas hepáticas, coagulopatía y trombocitopenia. Permaneció afebril, sin presentar hipoglucemia ni signos de encefalopatía. Su evolución fue favorable, con normalización de los parámetros analíticos al séptimo día de postoperatorio. Se evaluaron todas las posibles causas de fallo hepático agudo y se expone el diagnóstico diferencial realizado

Sevoflurane is a volatile anesthetic characterized by low toxicity and is the most used in pediatric age. Unlike other halogenated anesthetic, sevoflurane is not metabolized to reactive intermediates that lead to the formation of hepatotoxic proteins. However, a few cases of hepatotoxicity have been associated with its use. We report a case of an 11-year-old boy who developed acute liver failure after neurosurgical intervention, resection of a posterior fossa mass, under sevoflurane anesthesia and other drugs. Postoperatively, he presented abdominal pain and the laboratory tests showed markedly elevated aminotransferase levels, coagulopathy and thrombocytopenia. He had no fever, hypoglycemia or evidence of encephalopathy. The clinical evolution was favorable and after 7 days, laboratory values were completely normalized. All the possible causes of acute liver failure were evaluated and the differential diagnosis is exposed

Acute liver failure after sevoflurane anesthesia in a pediatric patient. / Fallo hepático agudo tras anestesia con sevoflurano en un paciente pediátrico.

Sevoflurane is a volatile anesthetic characterized by low toxicity and is the most used in pediatric age. Unlike other halogenated anesthetic, sevoflurane is not metabolized to reactive intermediates that lead to the formation of hepatotoxic proteins. However, a few cases of hepatotoxicity have been associated with its use. We report a case of an 11-year-old boy who developed acute liver failure after neurosurgical intervention, resection of a posterior fossa mass, under sevoflurane anesthesia and other drugs. Postoperatively, he presented abdominal pain and the laboratory tests showed markedly elevated aminotransferase levels, coagulopathy and thrombocytopenia. He had no fever, hypoglycemia or evidence of encephalopathy. The clinical evolution was favorable and after 7 days, laboratory values were completely normalized. All the possible causes of acute liver failure were evaluated and the differential diagnosis is exposed.

Neutropenia en la infancia: experiencia de 15 años en un hospital terciario / Neutropenia in childhood: a 15-year experience in a tertiary hospital

Objetivos: Analizar las formas clínicas de presentación, hallazgos al diagnóstico, caracterización etiológica y evolución de los diferentes tipos de neutropenia en la infancia, excluida la asociada a diagnóstico o tratamiento oncológico. Material y métodos: Estudio retrospectivo descriptivo sobre una serie de casos clínicos consecutivos en niños diagnosticados de neutropenia, durante los años 2000-2015. Estudio analítico por grupos etiológicos agrupando formas congénitas y adquiridas y grupos de edad. Resultados: Se incluyeron 43 casos predominando las formas adquiridas (35, 81,4%). Las neutropenias congénitas (8, 18,6%) se asociaron a neutropenia benigna familiar (3), anemia de Fanconi (2) y neutropenia cíclica (3), sin otros casos de neutropenia congénita grave. El diagnóstico de la neutropenia se realizó por hallazgo analítico casual en 20 casos (46,5%) y en 17 (39,5%) por analítica por infección. La mediana de neutrófilos al diagnóstico fue significativamente menor en el grupo de neutropenias autoinmune primaria que en el grupo postinfecciosa. En 23 casos (53,5%) la neutropenia fue persistente. En las formas congénitas se apreció mayor duración de la neutropenia y mayor porcentaje de infecciones de repetición. En las adquiridas el porcentaje de neutropenia moderada y grave o muy grave fue mayor en el grupo de menores de dos años. Las pruebas de mayor rentabilidad diagnóstica fueron los anticuerpos antineutrófilos (63,3%) y el estudio de médula ósea (41,6%). Conclusiones: Debido a la excepcionalidad de las formas congénitas graves, en la infancia predominan las formas adquiridas de neutropenia y en éstas se asocia la mayor severidad al diagnóstico de neutropenia autoinmune primaria

Objectives: To analyze the clinical forms of presentation, findings at diagnosis, etiological characterization and clinical evolution of different types of neutropenia in childhood, excluding those associated with diagnosis or oncological treatment. Material and methods: A retrospective descriptive study of a series of consecutive clinical cases in children diagnosed with neutropenia during the years 2000-2015. Etiological form grouping congenital and acquired types and age groups, were investigated. Results: Forty-five cases were included, predominantly acquired forms (35, 81.4%). Congenital neutropenia (8, 18.6%) were associated with ethnic neutropenia (3), Fanconi anemia (2) and cyclic neutropenia (3), without other cases of severe congenital neutropenia. The diagnosis of neutropenia was made by casual analytical finding in 20 cases (46.5%) and in 17 (39.5%) by analytic coincidence with infection. The median neutrophils at diagnosis were significantly lower in the primary autoimmune neutropenia group than in the postinfectious group. In 23 cases (53.5%), neutropenia was persistent. In the congenital forms, the duration of neutropenia and a higher percentage of recurrent infections were observed. In the acquired cases, the percentage of moderate and severe or very severe neutropenia was higher in the group of children under two years. The most diagnostic tests were neutrophil antibodies assay (63.3%) and the bone marrow study (41.6%). Conclusions: Due of the exceptional nature of severe congenital forms, acquired forms of neutropenia predominate in childhood. In these, the greatest severity is associated with the diagnosis of primary autoimmune neutropenia