Neonatal hemophagocytic syndrome. Case report

Introducción: el síndrome hemofagocítico o linfohistiocitosis hemofagocítica se caracteriza por una activación patológica del sistema inmune mediada por linfocitos T citotóxicos, natural killers y macrófagos, que finalmente fagocitan las células hematopoyéticas. Presentación de caso: recién nacido a término, peso adecuado para la edad gestacional, hijo de madre multípara, abortadora habitual, con antecedentes patológicos personales de hipermovilidad articular y gastritis crónica. Nació en buenas condiciones y en su evolución presentó distrés respiratorio, exantema, fiebre, pancitopenia, hepatomegalia marcada y ferritina sérica elevada con empeoramiento clínico-analítico y rápida progresión a la disfunción múltiple de órganos, con estudios virológicos negativos y sin crecimiento bacteriano ni micótico. Se diagnosticó síndrome hemofagocítico con prescripción de tratamiento específico: dexametasona e inmunoglobulina a dosis inmunosupresora. El neonato tuvo una evolución tórpida y fallece con 27 días de vida.Conclusiones: el síndrome hemofagocítico en el período neonatal es difícil de diagnosticar y se comporta como un simulador de muchas enfermedades con rápida progresión al fallo multiorgánico e implicaciones  pronósticas muy desfavorables para el paciente.Introduction: hemophagocytic syndrome or hemophagocytic lymphohistiocytosis is characterized by a pathological activation of the immune system mediated by cytotoxic T lymphocytes, natural killers and macrophages, which finally phagocytize hematopoietic cells. Case presentation: term newborn, appropriate weight for gestational age, son of a multiparous mother, habitual aborter, with a personal pathological history of joint hypermobility and chronic gastritis. He was born in good condition and in his evolution presented respiratory distress, exanthema, fever, pancytopenia, marked hepatomegaly and elevated serum ferritin with clinical-analytical worsening and rapid progression to multiple organ dysfunction, with negative virological studies and no bacterial or fungal growth. Hemophagocytic syndrome was diagnosed and specific treatment was prescribed: dexamethasone and immunoglobulin at immunosuppressive doses. The neonate had a torpid evolution and died at 27 days of life.Conclusions: hemophagocytic syndrome in the neonatal period is difficult to diagnose and behaves as a simulator of many diseases with rapid progression to multiorgan failure and very unfavorable prognostic implications for the patient

Clinical diagnosis of acute lymphoid leukemia-T

Introduction: acute lymphoblastic or lymphoblastic leukemia is the most frequent neoplasm in pediatric ages. In childhood, most are B-cells, only 12% to 15% have T-immunophenotype. Acute lymphoblastic leukemia- T is a disease with remarkable clinical and biological heterogeneity that frequently occurs in young adults, usually males, with a high count of white blood cell, mediastinal mass and possible invasion of the central nervous system. Case Report: a male adolescent with upper right edema, lateral neck region and hemiface of the same side associated with cough, in addition to left peripheral facial paralysis and hepatosplenomegaly. A mediastinal widening with left pleural effusion was evidenced in chest X-ray, the presence of a large tumor mass occupying the anterosuperior and middle part of the mediastinum with left predominance is observed by means of computer axial tomography of the chest. In the clinical laboratory tests, hyper-leukocytosis was observed with 49% of blasts and a marked uric acid as well as LDH increase; the medullogram showed the presence of 90% of lymphoid-like blasts, being confirmed by immunophenotyping approach with the aid of flow cytometry and T-cell lineage. Conclusions: the nonspecific character of the initial clinical manifestations is highlighted, as indicators of different diagnoses, so it is considered useful and interesting to refer the case to the consideration of other health professionals

Diagnóstico clínico de leucemia linfoide aguda T

Introduction: acute lymphoblastic or lymphoblastic leukemia is the most frequent neoplasm in pediatric ages. In childhood, most are B-cells, only 12% to 15% have T-immunophenotype. Acute lymphoblastic leukemia- T is a disease with remarkable clinical and biological heterogeneity that frequently occurs in young adults, usually males, with a high count of white blood cell, mediastinal mass and possible invasion of the central nervous system. Case Report: a male adolescent with upper right edema, lateral neck region and hemiface of the same side associated with cough, in addition to left peripheral facial paralysis and hepatosplenomegaly. A mediastinal widening with left pleural effusion was evidenced in chest X-ray, the presence of a large tumor mass occupying the anterosuperior and middle part of the mediastinum with left predominance is observed by means of computer axial tomography of the chest. In the clinical laboratory tests, hyper-leukocytosis was observed with 49% of blasts and a marked uric acid as well as LDH increase; the medullogram showed the presence of 90% of lymphoid-like blasts, being confirmed by immunophenotyping approach with the aid of flow cytometry and T-cell lineage. Conclusions: the nonspecific character of the initial clinical manifestations is highlighted, as indicators of different diagnoses, so it is considered useful and interesting to refer the case to the consideration of other health professionals.  Introducción: la leucemia linfoide aguda o linfoblástica es la neoplasia más frecuente en la edad pediátrica. En la infancia mayoría es de células B, solo un 12% a 15% presentan inmunofenotipo T. La leucemia linfoblástica aguda T es una enfermedad con una notable heterogeneidad clínica y biológica que se presenta con frecuencia en adultos jóvenes, por lo general varones, con una cifra de leucocitos elevada, masa mediastínica y posible invasión del sistema nervioso central.Presentación del caso: un adolescente masculino con edema en miembro superior derecho, región lateral del cuello y hemicara del mismo lado asociado a tos, además de parálisis facial periférica izquierda y hepatoesplenomegalia. Se evidenció en Rx de tórax ensanchamiento mediastinal con derrame pleural izquierdo y en tomografía axial computarizada de tórax presencia de una gran masa tumoral ocupando la parte anterosuperior y media del mediastino con predominio izquierdo. En los exámenes de laboratorio clínico se observó hiperleucocitosis con 49% de blastos y una marcada elevación del ácido úrico y   la LDH, el medulograma mostró presencia de 90% de blastos de aspecto linfoide, confirmándose por inmunofenotipaje en citómetro de flujo su linaje T.Conclusiones: se destaca el carácter inespecífico de las manifestaciones clínicas iniciales, siendo estas sugestivas de disímiles diagnósticos, por lo que se considera útil e interesante poner el caso a consideración de otros profesionales de la salud.

Indirect molecular diagnosis in a study of families with hemophilia in Pinar del Río

Introducción: la hemofilia es una enfermedad hereditaria que se transmite con un patrón recesivo ligado al cromosoma X. Su expresión clínica está dada por el déficit o la ausencia de actividad de factores de la coagulación (factor VIII para la Hemofilia A y factor IX para la Hemofilia B) Se caracteriza por una marcada heterogeneidad genética, lo que hace complejo su diagnóstico por métodos moleculares directos. En Cuba, se dispone de estudios indirectos por técnica de ligamiento para la caracterización de familias que conviven con hemofilia.Objetivo: describir los resultados de estudios moleculares indirectos en familias con antecedentes de hemofilia en Pinar del Río.Métodos: se realizó una investigación observacional, descriptiva y transversal en el universo de nueve familias que agrupan 10 pacientes en edad pediátrica con diagnóstico de hemofilia en Pinar del Río. La muestra se conformó con cinco familias, cuatro con hemofilia A y una con hemofilia B, a las que se realizó estudio molecular indirecto para diagnóstico de portadoras y diagnóstico prenatal.Resultados: las cinco familias resultaron informativas para los marcadores disponibles. Se identificaron nueve mujeres portadoras y se realizó diagnóstico prenatal de cuatro fetos, de ellos dos enfermos, uno sano y el otro pendiente de resultado. El marcador St14 resultó el más informativo para hemofilia A.Conclusiones: la posibilidad de estudio molecular indirecto contribuye al diagnóstico, asesoramiento y manejo del riesgo de recurrencia de la hemofilia en cada genealogía de manera particular y se presenta como alternativa útil, aunque elemental, para la caracterización genotípica de las familias afectadas.  Introduction: hemophilia is a hereditary disease transmitted with an X-linked recessive pattern. Its clinical expression is given by the deficit or absence of coagulation factor activity (factor VIII for Hemophilia A and factor IX for Hemophilia B). It is characterized by a marked genetic heterogeneity, which makes its diagnosis by direct molecular methods complex. In Cuba, indirect studies by linkage technique are available for the characterization of families living with hemophilia.Objective: to describe the results of indirect molecular studies in families with a history of hemophilia in Pinar del Río.Methods: an observational, descriptive and transversal research was carried out in the universe of nine families grouping 10 pediatric patients with a diagnosis of hemophilia in Pinar del Río. The sample consisted of five families, four with hemophilia A and one with hemophilia B, which underwent an indirect molecular study for the diagnosis of carriers and prenatal diagnosis.Results: the five families were informative for the available markers. Nine carrier women were identified and prenatal diagnosis was performed in four fetuses, two of which were diseased, one healthy and the other pending results. The St14 marker proved to be the most informative for hemophilia A.Conclusions: the possibility of indirect molecular study contributes to the diagnosis, counseling and management of the risk of recurrence of hemophilia in each genealogy in a particular way and is presented as a useful, although elementary, alternative for the genotypic characterization of affected families

Comportamiento clínico y complicaciones de la hemofilia en la población pediátrica

Introduction: hemophilia is an inherited disease linked to sex, caused by the decreased coagulant activity of factor VIII (hemophilia A), factor IX (hemophilia B) and factor XI (hemophilia C). Its treatment represents a high economic cost for the country and it is associated with great frequency to serious disabilities of the afflicted patient, negatively impacting its bio-psychosocial development, as well as an adequate familiar functionality.Objective: to characterize hemophilia clinically and epidemiologically in the pediatric population of Pinar del Río province, in the period from January 1985 to June 2016Method: an observational, descriptive and cross-sectional study was conducted in pediatric patients diagnosed with hemophilia. The data were extracted from the clinical files. The diagnosis was established by coagulogram, dosage of plasma factors VIII, IX and XI and dosage of inhibitors. Descriptive statistics was used.Results: out of a total of 9 hemophiliac individuals, a clear predominance of A (n = 8) and moderate form (n = 5) was observed. The diagnoses were made before one year of age (66 %), where traumatic hemorrhages (intracranial bleedings) were the most frequent (22.1 %). All patients with moderate or severe behavior had muscle-skeletal bleeding. The main complications of the disease were secondary epilepsy and mental retardation as a consequence of neonatal intracranial hemorrhage; therapeutic complications were related to alloimmune processes.Conclusions: Traumatic hemorrhages in the early stages of life were the most frequent cause of the diagnosis of the disease, with bleeding from the central nervous system being the main cause of sequelae in these patients. Introducción: la hemofilia es una enfermedad hereditaria ligada al sexo, producida por disminución de la actividad coagulante del factor VIII (hemofilia A), del factor IX (hemofilia B) y del factor XI (hemofilia C). Su tratamiento representa un elevado costo económico para el país y se asocia con gran frecuencia a discapacidades serias del paciente afecto, impactando negativamente en su desarrollo biopsicosocial, así como en la adecuada funcionabilidad familiar.Objetivo: caracterizar clínica y epidemiológicamente la hemofilia en la población pediátrica de la provincia Pinar del Río, en el período desde enero de 1985 a junio de 2016.Método: se realizó un estudio observacional, descriptivo y transversal en pacientes pediátricos diagnosticados con hemofilia. Los datos fueron extraídos de los expedientes clínicos. El diagnóstico se estableció mediante coagulograma, dosificación de factores plasmáticos VIII, IX y XI y dosificación de inhibidores. Se empleó estadística descriptiva.Resultados: De un total de 9 individuos hemofílicos se observó un franco predominio de la A (n=8) y de la forma moderada (n=5). Los diagnósticos se realizaron antes de un año de edad (66%), donde las hemorragias traumáticas (sangrados intracraneales) fueron las más frecuentes (22.1%). Todos los pacientes con comportamiento moderado o severo tuvieron sangrado músculo-esquelético. Las principales complicaciones de la enfermedad fueron epilepsia secundaria y retraso mental como secuela de hemorragia intracraneal neonatal.  Las complicaciones terapéuticas estuvieron relacionadas con procesos aloinmunes.Conclusiones: Las hemorragias traumáticas en etapas tempranas de la vida fueron la causa más frecuente del diagnóstico de la enfermedad, siendo el sangramiento del sistema nervioso central la principal causa de secuelas en estos pacientes

Clinical behavior and complications of hemophilia in the pediatric population

Introduction: hemophilia is an inherited disease linked to sex, caused by the decreased coagulant activity of factor VIII (hemophilia A), factor IX (hemophilia B) and factor XI (hemophilia C). Its treatment represents a high economic cost for the country and it is associated with great frequency to serious disabilities of the afflicted patient, negatively impacting its bio-psychosocial development, as well as an adequate familiar functionality. Objective: to characterize hemophilia clinically and epidemiologically in the pediatric population of Pinar del Río province, in the period from January 1985 to June 2016 Method: an observational, descriptive and cross-sectional study was conducted in pediatric patients diagnosed with hemophilia. The data were extracted from the clinical files. The diagnosis was established by coagulogram, dosage of plasma factors VIII, IX and XI and dosage of inhibitors. Descriptive statistics was used. Results: out of a total of 9 hemophiliac individuals, a clear predominance of A (n = 8) and moderate form (n = 5) was observed. The diagnoses were made before one year of age (66 %), where traumatic hemorrhages (intracranial bleedings) were the most frequent (22.1 %). All patients with moderate or severe behavior had muscle-skeletal bleeding. The main complications of the disease were secondary epilepsy and mental retardation as a consequence of neonatal intracranial hemorrhage; therapeutic complications were related to alloimmune processes. Conclusions: Traumatic hemorrhages in the early stages of life were the most frequent cause of the diagnosis of the disease, with bleeding from the central nervous system being the main cause of sequelae in these patients