[Paracentesis as abdominal decompression therapy in neuroblastoma MS with massive hepatomegaly]. / Paracentesis como tratamiento descompresivo abdominal en neuroblastoma MS con hepatomegalia masiva.

Neuroblastoma MS with massive hepatomegaly is a small percentage of cases of neuroblastoma. It is more common in infants less than 4-6 weeks of life, and involves, in contrast to the standard of the NB MS, poor prognosis given the complications that can have. In the case of abdominal compartment syndrome it is recommended a quick start of chemotherapy, associating or not radiation therapy, to try to reduce the size of the liver, and if necessary, decompressive laparotomy. We present the case of a patient with NB MS, massive hepatomegaly and threatening symptoms for life, in which the surgical attitude that got relieve intra-abdominal compression syndrome consisted just in an evacuating paracentesis.

El neuroblastoma MS (o 4S según la nomenclatura clásica) con hepatomegalia masiva supone un mínimo porcentaje de los casos de neuroblastoma. Es más frecuente en lactantes de menos de 4-6 semanas de vida, y conlleva, al contrario que la norma del NB MS, mal pronóstico dadas las complicaciones que puede tener. En caso de síndrome compartimental abdominal se aconseja inicio rápido de tratamiento quimioterápico, asociando o no radioterapia para intentar reducir el tamaño del hígado, y en caso de ser necesario, laparotomía descompresiva. Presentamos el caso de una paciente con NB MS, hepatomegalia masiva y síntomas amenazantes para la vida, en la que la actitud quirúrgica que consiguió aliviar el síndrome de compresión intraabdominal consistió únicamente en paracentesis evacuadora.

Paracentesis como tratamiento descompresivo abdominal en neuroblastoma MS con hepatomegalia masiva / No disponible

El neuroblastoma MS (o 4S según la nomenclatura clásica) con hepatomegalia masiva supone un mínimo porcentaje de los casos de neuroblastoma. Es más frecuente en lactantes de menos de 4-6 semanas de vida, y conlleva, al contrario que la norma del NB MS, mal pronóstico dadas las complicaciones que puede tener. En caso de síndrome compartimental abdominal se aconseja inicio rápido de tratamiento quimioterápico, asociando o no radioterapia para intentar reducir el tamaño del hígado, y en caso de ser necesario, laparotomía descompresiva. Presentamos el caso de una paciente con NB MS, hepatomegalia masiva y síntomas amenazantes para la vida, en la que la actitud quirúrgica que consiguió aliviar el síndrome de compresión intraabdominal consistió únicamente en paracentesis evacuadora

Neuroblastoma MS with massive hepatomegaly is a small percentage of cases of neuroblastoma. It is more common in infants less than 4-6 weeks of life, and involves, in contrast to the standard of the NB MS, poor prognosis given the complications that can have. In the case of abdominal compartment syndrome it is recommended a quick start of chemotherapy, associating or not radiation therapy, to try to reduce the size of the liver, and if necessary, decompressive laparotomy. We present the case of a patient with NB MS, massive hepatomegaly and threatening symptoms for life, in which the surgical attitude that got relieve intra-abdominal compression syndrome consisted just in an evacuating paracentesis

Hospital Universitario Cruces: un centro de referencia / Hospital Universitario Cruces: a center of reference

No disponible

La Unidad de Hematología y Oncología Pediátricas del Hospital Universitario Cruces (1992-2015) / Hematology and Pediatric Oncology unit of the Hospital Universitario Cruces (1999-2015)

Se realiza un breve recuerdo de cómo ha evolucionado la atención a los niños con procesos neoplásicos en el mayor hospital de la CAPV desde su origen hascael momento actual. Se describen los cambios que han tenido lugar en las actividades asistenciales, docentes e investigadoras condicionados por los medios disponibles y los avances que se han ido implantando con mejoras en el área física de hospitalización,en la atención en hospital de día y domiciliaria, en las consultas multidisciplinares de seguimienro de los supervivientes y de transición al adulto y en la investigación relacionada. Las actividades docentes de estudiantes de pregrado, la formación de residentes de Pediatría del centro y de rotantes externos de otras especialidades como la Hematologia, Oncología Radioterápica y Oncología Médica de los Servicios del propio hospital y de comunidades limítrofes sin dotación de Oncología Pediátrica. La dirección de tesis doctorales relativas a la especialidad, realización de cursos de doctorado de la UPV y Máster de Oncología, Neurociencias y Cuidados paliativos. La actividad investigadora clínico-traslacional y sus futuros objetivos para conrribuir al tratamienro inregral del cáncer infantil (AU)

A brief review is performed regarding how care to children with neoplastic processes has developed in the largest hospital of the Basque autonomous community from its origin to the present moment. The changes that have occurred in the care, teaching and investigator activities conditioned by the available resources and the advances that have been implemented with improvements in the physical area of hospitalization, in the attention in the day hospital and home care, in the multidisciplinary follow-up medical visits of the survivors and transition to adulthood and in related research are described. Teaching activities of pre-graduate students, training of pediatric residents of the site and external rotations in other specialties such as Hepatology, Radiation Oncology and Medical Oncology of the services of the hospital per se and of the neighboring communities without pediatric oncology resources. Direction of doctoral thesis regarding the specialty, performance of doctorate courses of UPV and Oncology, Neurosciences and Palliative Care Master. The investigator-clinical translational activity and its future objectives to contribution to the comprehensive treatment of childhood cancer (AU)

La docencia de Pediatría en el Departamento Universitario del Hospital Cruces / Teaching of pediatrics in the University Department of the Hospital Cruces

En este texto se expone resumidamente la evolución del Departamento Universitario de Pediatría y su estrecha relación con el Servicio de Pediatría, antes Departamento, del Hospital de Cruces, actualmente Hospital Universitario Cruces. Se describe someramente la histórica relación de ambas instituciones y la situación actual, a raíz del Concierto UPV/EHU-Osakidetza, donde ambas han quedado oficialmente vinculadas. Se describe la fuerte vocación docente e investigadora del Servicio de Pediatría y sus interrelaciones con el departamento Universitario de Pediatría. Se expone la participación de los miembros del Servicio, tanto en la docencia del Pregrado como del Postgrado y su importante producción científica. Todo esto pone de manifiesto lo que es un Servicio de Pediatría de un Hospital Universitario en él que se fomentan, una cultura y unos valores basados en la adquisición y generación del conocimiento, su transmisión a todos los niveles docentes y en la excelencia del servicio asistencial (AU)

In this text, the evolution of the University Department of Pediatrics and its close relation with the Pediatric Service, previously Department, of the Hospital de Cruces, currently the Hospital Universitario Cruces, is briefly presented. A brief description is given of the historical relation of both institutions and the current situation, based on the UPVI EHU-Osakidetza Agreement, in which both became officially linked. The strong teaching and research vocation of the Pediatric Service and its interrelations with the University of Pediatrics is described. The participation of the Service members in both Pre-graduate and Post-graduate teaching and its important scientific production are presented. All this shows what a Pediatric Service of a University Hospital is in which a culture and values based on acquiring and generation of knowledge, transmission to all teaching levels and on excellence of care service is promoted (AU)

Actualización del tratamiento con L-asparraginasa en Pediatría / Update on L-asparaginase treatment in paediatrics

La L-asparraginasa (L-ASP) es una de las piedras angulares del tratamiento de la leucemia linfoblástica aguda y del linfoma no Hodgkin. Es una enzima de origen bacteriano con capacidad de transformar la L-Asparragina en ácido aspártico; la depleción extracelular de este aminoácido inhibe la síntesis proteica en los linfoblastos induciendo su apoptosis. Numerosos estudios han demostrado que los tratamientos con L-ASP mejoran la supervivencia de estos pacientes, pero existen diferencias en las características de las 3 formulaciones disponibles en la actualidad. Este artículo revisa la dosificación, actividad y efectos secundarios de las 2 L-ASP derivadas de Escherichia coli (la nativa y la pegilada) y de la única derivada de Erwinia chrysanthemi (Erwinia ASP). A pesar de su indiscutible indicación en los últimos 50 años, siguen existiendo numerosos puntos de controversia, y su uso todavía sigue marcado por los efectos secundarios derivados de la inhibición de la síntesis proteica. La vida media corta de las formas nativas y la vía de administración intramuscular, la más utilizada hasta el momento, afecta la calidad de vida de estos pacientes por la frecuencia con la que han de acudir al centro hospitalario y las múltiples punciones que conlleva. Por ello, los estudios más recientes pretenden valorar otras alternativas como la formulación de vida media más larga (L-ASP pegilada) y la vía intravenosa, con resultados alentadores. Aun así, son necesarios más estudios para establecer cuál es la formulación y la vía de administración indicada en primera línea, la dosificación óptima y el manejo de los efectos adversos (AU)

L-asparaginase (L-ASP) is one of the cornerstones of the treatment of acute lymphoblastic leukemia and non-Hodgkin lymphoma. It is an enzyme of bacterial origin capable of transforming L-asparagine to aspartic acid. The extracellular depletion of L-asparagine inhibits protein synthesis in lymphoblasts, inducing their apoptosis. Numerous studies have demonstrated that treatment with L-ASP improves survival of patients, but there are clear differences in the characteristics of the three currently available formulations. This article reviews the dosage, activity and side effects of the two L-ASP derived from Escherichia coli (native and pegylated), and the one derived from Erwinia chrysanthemi (Erwinia ASP). Despite its indisputable indication over the past50 years, there are still many points of contention, and its use is still marked by the side effects of the inhibition of protein synthesis. The short half-life of native forms, and the most frequently used parenteral administration by intramuscular injections, affects the quality of life of the patients. Therefore, recent studies claim to evaluate alternatives, such as the formulation of longer half-life pegylated L-ASP, and the use of intravenous formulations. There are encouraging results to date with both preparations. Still, further studies are needed to establish which should be the formulation and frontline indicated route of administration, optimal dosing, and management of adverse effects (AU)

[Update on L-asparaginase treatment in paediatrics]. / Actualización del tratamiento con L-asparraginasa en Pediatría.

L-asparaginase (L-ASP) is one of the cornerstones of the treatment of acute lymphoblastic leukemia and non-Hodgkin lymphoma. It is an enzyme of bacterial origin capable of transforming L-asparagine to aspartic acid. The extracellular depletion of L-asparagine inhibits protein synthesis in lymphoblasts, inducing their apoptosis. Numerous studies have demonstrated that treatment with L-ASP improves survival of patients, but there are clear differences in the characteristics of the three currently available formulations. This article reviews the dosage, activity and side effects of the two L-ASP derived from Escherichia coli (native and pegylated), and the one derived from Erwinia chrysanthemi (Erwinia ASP). Despite its indisputable indication over the past50 years, there are still many points of contention, and its use is still marked by the side effects of the inhibition of protein synthesis. The short half-life of native forms, and the most frequently used parenteral administration by intramuscular injections, affects the quality of life of the patients. Therefore, recent studies claim to evaluate alternatives, such as the formulation of longer half-life pegylated L-ASP, and the use of intravenous formulations. There are encouraging results to date with both preparations. Still, further studies are needed to establish which should be the formulation and frontline indicated route of administration, optimal dosing, and management of adverse effects.

Histiocitosis. Experiencia en España / Histiocytosis. Experience in Spain

No disponible

Esplenomegalia familiar como manifestación clínica del síndrome linfoprolifetativo autoinmune / Familial splenomegaly as a first clinical sign of autoimmune lymphoproliferative syndrome

Introducción: El síndrome linfoproliferativo autoinmune es la consecuencia de un defecto genético que compromete la apoptosis de los linfocitos. La linfoproliferación se manifiesta por adenomegalias y/o esplenomegalia crónica. El diagnóstico requiere demostrar el defecto de la apoptosis linfocitaria y el aumento de linfocitos T dobles negativos (TDN) que carecen de CD4 y CD8. Existe riesgo de desarrollar linfomas y enfermedades autoinmunes, sobre todo citopenias. Métodos: Estudiamos a un niño de 14 años con esplenomegalia de varios años de evolución con antecedentes familiares de esplenomegalia y adenomegalias. Se analiza el fenotipo de los linfocitos T y el defecto molecular del gen TNFRSF6 en el niño, su hermana y el padre. Se estudia el defecto de la apoptosis en el niño y su padre. Resultados: En el niño y su padre se confirman el defecto de la apoptosis de los linfocitos, el aumento de linfocitos dobles negativos (el 18 y 5%, respectivamente) y la misma mutación del gen TNFRSF6. La hermana presenta la misma mutación con un 16% de linfocitos doblemente negativos. Comentarios: La esplenomegalia crónica familiar puede ser la única manifestación del síndrome linfoproliferativo autoinmune (AU)

Background: The autoimmune lymphoproliferative syndrome (ALPS) is caused by genetic defect in lymphocyte apoptosis. Chronic lymphadenopathy and splenomegaly are the consequence of lymphoproliferation. The diagnosis is based on the assessment of the defective lymphocyte apoptosis and the identification of lymphocyte T subset that are double negative (CD4-CD8-). The susceptibility to lymphoma and autoimmune diseases, mainly blood cytopenias is increased. Methods: We studied a 14 year-old boy with chronic splenomegaly and familial history of splenomegaly and lymphadenopathy. T lymphocyte phenotypes, and molecular defect of TNFRSF6 gene were studied in the child, his sister and his father. Lymphocyte apoptosis was also analysed in the child and his father. Results: The boy and his father showed in vitro apoptosis defects, an increased number of double negative T lymphocytes (18% and 5%, respectively) and the same mutation in the TNFRSF6 gene. His sister had 16% of double negative T lymphocytes and the mutation in the TNFRSF6 gene. Comments: Chronic familial splenomegaly can be the only clinical sign of autoimmune lymphoproliferative syndrome (AU)

[Familial splenomegaly as a first clinical sign of autoimmune lymphoproliferative syndrome]. / Esplenomegalia familiar como manifestación clínica del síndrome linfoprolifetativo autoinmune.

BACKGROUND: The autoimmune lymphoproliferative syndrome (ALPS) is caused by genetic defect in lymphocyte apoptosis. Chronic lymphadenopathy and splenomegaly are the consequence of lymphoproliferation. The diagnosis is based on the assessment of the defective lymphocyte apoptosis and the identification of lymphocyte T subset that are double negative (CD4-CD8-). The susceptibility to lymphoma and autoimmune diseases, mainly blood cytopenias is increased. METHODS: We studied a 14 year-old boy with chronic splenomegaly and familial history of splenomegaly and lymphadenopathy. T lymphocyte phenotypes, and molecular defect of TNFRSF6 gene were studied in the child, his sister and his father. Lymphocyte apoptosis was also analysed in the child and his father. RESULTS: The boy and his father showed in vitro apoptosis defects, an increased number of double negative T lymphocytes (18% and 5%, respectively) and the same mutation in the TNFRSF6 gene. His sister had 16% of double negative T lymphocytes and the mutation in the TNFRSF6 gene. COMMENTS: Chronic familial splenomegaly can be the only clinical sign of autoimmune lymphoproliferative syndrome.

Cirugía de alta resolución pediátrica: una serie de 75 casos / Paediatric one-stop surgery: a series of 75 cases

La cirugía de alta resolución (CAR) se define por la realización de la evaluación preoperatoria y la subsiguiente intervención quirúrgica en una única visita hospitalaria. El plan piloto de implantación de CAR se diseñó para la provincia de Bizkaia, y comprende una población de 124.494 niños de 1 a 14 años. El nuevo plan de trabajo permite pasar de 4 visitas hospitalarias en la cirugía ambulatoria habitual, a una única visita. El pediatra de atención primaria (PAP) en el centro de salud realiza el diagnóstico y la evaluación postoperatoria. Durante un período de 10 meses se han operado 75 niños siguiendo este programa. Las intervenciones realizadas fueron cirugía de pared abdominal, cirugía genital y cirugía de piel y partes blandas. Hubo 2 complicaciones menores. La valoración global de la asistencia recibida por parte de los familiares fue excelente en el 32,7% de los casos, muy buena en el 36,2%, buena en el 24,1% y regular en el 3,4% de los casos. La CAR es un avance más de la cirugía ambulatoria. La estrecha relación entre el cirujano y el PAP es esencial. Se consiguen los siguientes objetivos: disminución del número de consultas y tiempo de espera, reducción de los costes de los procesos, disminución de la sobrecarga del trabajo de los facultativos en jornada matinal, mejora de la organización y agilidad de su actividad, y aumento de la calidad percibida por los usuarios (AU)

By one-stop surgery is meant the performing of both the pre-surgery assessment and the surgical procedure on the same day. We report our experience with a pilot study on one-stop surgery in the province of Bizkaia, with a population of 124,494 children aged 1 to 14 years old. Under the new scheme, the patient average of four visits to the hospital outpatient clinics was cut down to only one. Diagnosis and pre-surgery assessments were made by the children's Primary Care Paediatricians at their NHS clinics. Seventy-five children were treated over 10 months. They had abdominal wall, genital or soft tissue surgery. Only two developed minor complications. Families were generally satisfied with the quality of the medical care received as shown by a survey: 32.7% scored it as "excellent", 36.2% "very good", 24.1% "good" and 3.4% "medium". We think that one-stop surgery is a breakthrough in ambulatory surgery. Not only does it dramatically lower the number of visits to hospital outpatient clinics, but also the waiting time for surgery, the costs, and the surgeon's workload, and helps streamline the Public Health Services and the quality of the medical care as perceived by both patients and families. Ensuring a close relationship between Paediatric Surgeons and Primary Care Paediatricians is paramount (AU)

[Paediatric one-stop surgery: a series of 75 cases]. / Cirugía de alta resolución pediátrica: una serie de 75 casos.

By one-stop surgery is meant the performing of both the pre-surgery assessment and the surgical procedure on the same day. We report our experience with a pilot study on one-stop surgery in the province of Bizkaia, with a population of 124,494 children aged 1 to 14 years old. Under the new scheme, the patient average of four visits to the hospital outpatient clinics was cut down to only one. Diagnosis and pre-surgery assessments were made by the children's Primary Care Paediatricians at their NHS clinics. Seventy-five children were treated over 10 months. They had abdominal wall, genital or soft tissue surgery. Only two developed minor complications. Families were generally satisfied with the quality of the medical care received as shown by a survey: 32.7% scored it as "excellent", 36.2% "very good", 24.1% "good" and 3.4% "medium". We think that one-stop surgery is a breakthrough in ambulatory surgery. Not only does it dramatically lower the number of visits to hospital outpatient clinics, but also the waiting time for surgery, the costs, and the surgeon's workload, and helps streamline the Public Health Services and the quality of the medical care as perceived by both patients and families. Ensuring a close relationship between Paediatric Surgeons and Primary Care Paediatricians is paramount.

Nódulos subcutáneos como forma de presentación de síndrome linfoproliferativo maligno / Subcutaneous nodules as a sign of malignant lymphoproliferative syndrome

En su mayoría, las lesiones cutáneas de los procesos malignos aparecen de forma concomitante o posterior al diagnóstico del tumor primario. Se presenta el caso de una niña con tumefacción en la cara externa del pie derecho desde los 5 meses de vida, durante un ingreso hospitalario a los 7 meses por bronquiolitis con pancitopenia, el mielograma mostró hipoplasia mieloide y megacariocítica, con ecografía abdominal y del pie normales. Tras la administración de corticoterapia por su cuadro respiratorio y soporte transfusional, al alta se objetivó desaparición de la lesión del pie. Dos meses más tarde presentó reaparición de la tumefacción junto con nódulos subcutáneos diseminados. Confirmada la infiltración maligna en la biopsia cutánea, la estadificación demostró infiltración blástica del 6% en mielograma y afectación ganglionar abdominal en ecografía y tomografía computarizada. El inmunofenotipo F confirmó el diagnóstico de linfoma linfoblástico pre-B muy inmaduro. Se administró quimioterapia según protocolo EURO-LB-02 para estadio IV. En remisión completa al finalizar la fase de inducción; la paciente presentó recaída leucémica refractaria a los 13 meses del diagnóstico. Comentario: Ante una lesión cutánea de evolución tórpida se debe realizar una toma de biopsia para descartar malignidad. El diagnóstico diferencial de las lesiones cutáneas malignas en los niños (especialmente en lactantes) incluye fundamentalmente infiltración secundaria a leucemia o linfoma, metástasis de neuroblastoma o rabdomiosarcoma y, con menor frecuencia, otros procesos primarios. En esta paciente con presentación cutánea aislada, el curso de su proceso linfoproliferativo maligno pudo modificarse mediante la corticoterapia recibida previa al diagnóstico definitivo (AU)

Skin involvement in children with malignant processes usually appears at the same time or after the diagnosis of the primary tumour. We present the case of a girl with cutaneous involvement prior to the diagnosis of a malignant lymphoproliferative process. A previously healthy 5-month old girl who presented with an inflammatory subcutaneous lesion on the right foot. During hospital admission due to bronchiolitis at 7 months with associated pancytopenia while the myelogram showed myeloid and megakaryocytic hypoplasia, the abdominal and foot ultrasound were normal. After completing corticoid therapy for her respiratory process and transfusional support, the foot lesion had disappeared at discharge. Two months later she had a local recurrence with associated scattered subcutaneous nodules. The skin biopsy confirmed malignant infiltration; the myelogram showed 6% blast infiltration, and both abdominal ultrasound and CT scan demonstrated lymph node involvement. Immunophenotype confirmed the diagnosis of Precursor B Cell Lymphoblastic Leukemia-Lymphoma. Although complete remission was achieved at the end of the induction chemotherapy according EuroLB-02 protocol for stage IV, the patient presented a refractory leukaemia relapse thirteen months after diagnosis. Commentary: Malignancy should be suspected in the presence of a skin lesion with torpid evolution and biopsy should be considered. Differential diagnosis of malignant skin lesions in children, especially in infants, must include mainly secondary involvement of leukaemia, lymphoma, metastases of neuroblastoma or rhabdomyosarcoma and less frequently other primary processes. In our patient with an isolated cutaneous presentation, the progression of her malignant lymphoproliferative process could be modified by the corticotherapy given before the definitive diagnosis (AU)

Diseño e impacto de un proceso de cirugía de alta resolución pediátrica / No disponible

Introducción: La cirugía de alta resolución se define por la realización de la evaluación preoperatoria y la subsiguiente intervención quirúrgica en una única visita hospitalaria. Material y métodos: El plan piloto de implantación de cirugía de alta resolución se diseñó para la provincia de Bizkaia, que comprende una población de 124.494 niños de 0 a 14 años. El nuevo plan de trabajo permite pasar de 4 visitas hospitalarias en la cirugía ambulatoria habitual, a una única visita. El diagnóstico y la evaluación postoperatoria son realizados por el pediatra de atención primaria en el centro de salud. Resultados: Durante un periodo de 12 meses se han operado 120 niños siguiendo este programa. Las intervenciones realizadas fueron: cirugía de pared abdominal, cirugía genital y de piel y partes blandas. Hubo dos complicaciones menores. La valoración global de la asistencia recibida por parte de los familiares fue positiva en el 98% de los casos. Conclusiones: La cirugía de alta resolución es un avance más de la cirugía ambulatoria. La buena coordinación entre el cirujano y el pediatra de Atención Primaria es esencial en este proceso. Se consiguen los siguientes objetivos: disminución del número de consultas y tiempo de espera, reducción de los costes de los procesos, disminución de la sobrecarga del trabajo de los facultativos en jornada matinal, mejora de la organización y agilidad de su actividad y aumento de la calidad percibida por los usuarios (AU)

Background: By one-stop surgery we mean the performance of both pre-surgery assessment and surgical procedure on the same day. Material and methods: We report our experience with a pilot study of a one-stop surgery in the province of Bizkaia, with a population of 124.494 children aged 1 to 14 years. Under the new scheme, the average of four visits per patient to the hospital’s outpatient clinics was cut down to only one. Diagnosis and presurgery assessments were made by the children’s. Primary care paediatricians at their NHS offices. Results: One hundred and twenty children were treated overone year. They had abdominal wall, genital or soft tissue surgery. Only two developed minor complications. Families were generally satisfied with the quality of the medical care and 98% scored it as good or very good. Conclusions: We think that one-stop surgery is a breakth rough in ambulatory surgery. It does not only dramatically lower the number of visits to the hospital´s outpatient clinics, but also the waiting time for surgery, the costs, and the surgeon´s workload, and helps streamline the Public Health Services and the quality of the medical care as perceived by both patients and families. Ensuring a close relationship between Paediatric Surgeons and Primary Care Paediatricians is essential (AU)

[Subcutaneous nodules as a sign of malignant lymphoproliferative syndrome]. / Nódulos subcutáneos como forma de presentación de síndrome linfoproliferativo maligno.

UNLABELLED: Skin involvement in children with malignant processes usually appears at the same time or after the diagnosis of the primary tumour. We present the case of a girl with cutaneous involvement prior to the diagnosis of a malignant lymphoproliferative process. A previously healthy 5-month old girl who presented with an inflammatory subcutaneous lesion on the right foot. During hospital admission due to bronchiolitis at 7 months with associated pancytopenia while the myelogram showed myeloid and megakaryocytic hypoplasia, the abdominal and foot ultrasound were normal. After completing corticoid therapy for her respiratory process and transfusional support, the foot lesion had disappeared at discharge. Two months later she had a local recurrence with associated scattered subcutaneous nodules. The skin biopsy confirmed malignant infiltration; the myelogram showed 6% blast infiltration, and both abdominal ultrasound and CT scan demonstrated lymph node involvement. Immunophenotype confirmed the diagnosis of Precursor B Cell Lymphoblastic Leukemia-Lymphoma. Although complete remission was achieved at the end of the induction chemotherapy according Euro-LB-02 protocol for stage IV, the patient presented a refractory leukaemia relapse thirteen months after diagnosis. COMMENTARY: Malignancy should be suspected in the presence of a skin lesion with torpid evolution and biopsy should be considered. Differential diagnosis of malignant skin lesions in children, especially in infants, must include mainly secondary involvement of leukaemia, lymphoma, metastases of neuroblastoma or rhabdomyosarcoma and less frequently other primary processes. In our patient with an isolated cutaneous presentation, the progression of her malignant lymphoproliferative process could be modified by the corticotherapy given before the definitive diagnosis.

[Difficulties in the diagnosis of familial hemophagocytic lymphohistiocytosis]. / Dificultades en el diagnóstico de la linfohistiocitosis hemofagocítica familiar.

Familial hemophagocytic lymphohistiocytosis (FHL) is characterized by proliferation and non-malignant activation of histiocytes and T lymphocytes in the reticuloendothelial system. Diagnostic guidelines include fever, splenomegaly, cytopenia, hypertriglyceridemia and/or hypofibrinogenemia with hemophagocytosis in the bone marrow, spleen or lymph nodes. In many patients diagnosis is difficult due to the lack of diagnostic criteria, hemophagocytosis, variability of clinical presentation, spontaneous improvement and the absence of a specific marker of the disease. When there is strong clinical suspicion of FHL, chemotherapy and immunosuppressor treatment should be started early to achieve complete cure and should be followed by hematopoietic stem cell transplantation. We present the case of a 2-month-old girl who presented fever, anemia and thrombocytopenia, enlarged liver and spleen, hyperferritinemia, hypertriglyceridemia, and hypertransaminasemia without the finding of hemophagocytosis in bone marrow. Two of the girl's relatives had died of fulminant hepatic failure of unknown etiology. The patient improved spontaneously but presented reactivation of the disease 3 weeks later and died after splenic biopsy.

Dificultades en el diagnóstico de la linfohistiocitosis hemofagocítica familiar / Difficulties in the diagnosis of familial hemophagocytic lymphohistiocytosis

La linfohistiocitosis hemofagocítica familiar es una enfermedad caracterizada por proliferación y activación no maligna de histiocitos y linfocitos T en el sistema reticuloendotelial. Los criterios para su diagnóstico incluyen fiebre, esplenomegalia, citopenias, hipertrigliceridemia o hipofibrinogenemia e histología con hemofagocitosis en medula ósea, bazo o ganglios linfáticos. El diagnóstico es difícil en muchos casos debido a la ausencia de algún criterio e incluso de hemofagocitosis, heterogeneidad clínica, posibilidad de regresión espontánea, frecuente antecedente infeccioso, así como la falta de un marcador específico de la enfermedad. Ante una fuerte sospecha diagnóstica, el tratamiento inmunosupresor y quimioterapia debe iniciarse precozmente para alcanzar la curación definitiva con posterior trasplante de progenitores hematopoyéticos. Se presenta el caso de una niña de 2 meses, con 2 familiares fallecidos por fallo hepático fulminante de etiología desconocida que presentó fiebre, anemia, plaquetopenia, hepatosplenomegalia, hiperferritinemia, hipertrigliceridemia y alteración hepática sin hemofagocitosis clara en medula ósea, regresó espontáneamente pero sufrió reactivación a las 3 semanas y falleció tras biopsia esplénica (AU)

[Hereditary spherocytosis in neonates. Review of our caseload]. / Esferocitosis hereditaria neonatal: revisión casuística.

AIM: Review of hereditary spherocytosis diagnosed in infants younger than two months and their follow up. PATIENTS AND METHODS: Retrospective study of 18 infants younger than two months diagnosed from 1973 to 1995. RESULTS: Diagnosis was established in the first week of life in 50% of the patients. Hereditary pattern was autosomic dominant in 94% of the cases. Anaemia was observed in all the patients and hyperbilirubinemia in only 44%, although the latter was the clinical presentation in patients diagnosed at younger age. Exchange transfusion was performed in 3 children (1 with the severe form and 2 with the typical form of the disease). During the first 6 months of age, 55% of infants presented hemolytic crises that required transfusion in 91% of them. Both periodicity of crises and transfusions decreased to 38 and 44% respectively after the first year. Splenectomy was performed in the 3 children with severe forms and in 6 with typical forms (mean age 8 years and 3 months). No cholecystectomy was required so far. CONCLUSIONS: The authors believe that neonatal spherocytosis does not implicate worse prognosis at follow up. Blood support is higher during the first year of life. Elective splenectomy depends on age and transfusional requirements.

Esferocitosis hereditaria neonatal: revisión casuística / Hereditary spherocytosis in neonates. Review of our casuistics

OBJETIVO: Revisión de los niños diagnosticados de esferocitosis hereditaria (EH) antes de los 2 meses de edad y su evolución. PACIENTES Y MÉTODOS: Estudio retrospectivo de 18 pacientes diagnosticados en los primeros 2 meses de vida entre 1973 y 1995.RESULTADOS: La mitad de los pacientes fueron diagnosticados en la primera semana de vida. Se encontró el patrón de herencia autosómica dominante en el 94 por ciento. Se objetivó anemia en el 100 por ciento de los pacientes e ictericia en el 44 por ciento, aunque esta última fue la presentación clínica más frecuente en las formas precoces. Al diagnóstico, 8 pacientes precisaron transfusión de hematíes. De los 3 que precisaron exanguinotransfusión únicamente uno evolucionó a la forma grave de la enfermedad. Se objetivaron un mayor número de crisis hemolíticas (55,5 por ciento) y de necesidades transfusionales (91 por ciento) durante los primeros 6 meses de vida, con disminución a partir del primer año (38 y 44 por ciento, respectivamente). Mientras que en los 3 pacientes con formas graves y en 6 con formas típicas se practicó la esplenectomía a una edad media de 8 años y 3 meses, ninguno de los pacientes ha precisado colecistectomía hasta la fecha. CONCLUSIÓN: No se encuentra una relación clara entre el inicio precoz de la EH y la evolución a formas graves. Las necesidades transfusionales son mayores durante el primer año de vida, con un comportamiento más benigno a partir del mismo. La indicación de esplenectomía viene condicionada por los requerimientos transfusionales y la edad del niño (AU)