ABSTRACT
Los tumores ováricos, a diferencia de lo que sucede en la edad adulta, son infrecuentes en la población pediátrica. Predomina la estirpe germinal, con altas tasas de supervivencia. El objetivo de este estudio es presentar la epidemiología, clínica, diagnóstico y tratamiento de las pacientes de 0-15 años con diagnóstico, entre 2007 y 2017, de tumor ovárico en nuestro centro. Fueron 8 los casos encontrados de 171 tumores diagnosticados (el 4,7 %), con edad media de presentación de 12,5 años. Predominaban, al momento del debut, alteraciones menstruales, dolor abdominal y aumento de perímetro abdominal. Fueron de tipo germinal 6/8, y el teratoma maduro fue el más frecuente. Todas se diagnosticaron con ecografía abdominal, y se confirmó el diagnóstico en 7/8 con resonancia magnética. Se intervinieron todos los casos; predominó la salpingo-ooforectomía, y una paciente precisó quimioterapia adyuvante. La supervivencia libre de enfermedad fue del 100 %.
Unlike adults, ovarian tumors are infrequent in the pediatric population, predominating the germ line at this age, with high survival rates. The objective is to present the epidemiological, clinical, diagnosis and therapeutic characteristics of 0 to 15-year-old patients diagnosed with ovarian tumor in our center between 2007 and 2017.Eight cases out of 171 diagnosed tumors (4.7 %) were found, with a mean age of presentation of 12.5 years. At the moment of diagnosis, menstrual disturbances, abdominal pain and an increase in abdominal circumference predominated. Six out of eight were germ cell tumors, being the mature teratoma the most frequent one. All cases were diagnosed with abdominal ultrasound scan, confirmed in 7/8 cases with magnetic resonance imaging. All cases underwent surgery, predominating salpingo-oophorectomy with one patient requiring adjuvant chemotherapy. Disease-free survival was 100 %.
Subject(s)
Humans , Female , Child , Adolescent , Ovarian Neoplasms/diagnostic imaging , Neoplasms, Germ Cell and Embryonal , Ovarian Neoplasms/surgery , Biomarkers, Tumor , Retrospective Studies , Salpingo-oophorectomyABSTRACT
Unlike adults, ovarian tumors are infrequent in the pediatric population, predominating the germ line at this age, with high survival rates. The objective is to present the epidemiological, clinical, diagnosis and therapeutic characteristics of 0 to 15-year-old patients diagnosed with ovarian tumor in our center between 2007 and 2017. Eight cases out of 171 diagnosed tumors (4.7 %) were found, with a mean age of presentation of 12.5 years. At the moment of diagnosis, menstrual disturbances, abdominal pain and an increase in abdominal circumference predominated. Six out of eight were germ cell tumors, being the mature teratoma the most frequent one. All cases were diagnosed with abdominal ultrasound scan, confirmed in 7/8 cases with magnetic resonance imaging. All cases underwent surgery, predominating salpingo-oophorectomy with one patient requiring adjuvant chemotherapy. Disease-free survival was 100 %.
Los tumores ováricos, a diferencia de lo que sucede en la edad adulta, son infrecuentes en la población pediátrica. Predomina la estirpe germinal, con altas tasas de supervivencia. El objetivo de este estudio es presentar la epidemiología, clínica, diagnóstico y tratamiento de las pacientes de 0-15 años con diagnóstico, entre 2007 y 2017, de tumor ovárico en nuestro centro. Fueron 8 los casos encontrados de 171 tumores diagnosticados (el 4,7 %), con edad media de presentación de 12,5 años. Predominaban, al momento del debut, alteraciones menstruales, dolor abdominal y aumento de perímetro abdominal. Fueron de tipo germinal 6/8, y el teratoma maduro fue el más frecuente. Todas se diagnosticaron con ecografía abdominal, y se confirmó el diagnóstico en 7/8 con resonancia magnética. Se intervinieron todos los casos; predominó la salpingo-ooforectomía, y una paciente precisó quimioterapia adyuvante. La supervivencia libre de enfermedad fue del 100 %.
Subject(s)
Neoplasms, Germ Cell and Embryonal , Ovarian Neoplasms , Adolescent , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Neoplasm Staging , Ovarian Neoplasms/diagnosis , Ovarian Neoplasms/epidemiology , Ovarian Neoplasms/therapy , Ovariectomy , Retrospective StudiesABSTRACT
INTRODUCCIÓN: La trombocitopenia inmune primaria (PTI) es poco frecuente en la infancia, pero es la causa más habitual de trombocitopenia. Se han intentado establecer factores de riesgo para predecir su evolución, con el objetivo de poder optimizar su manejo, que se ha modificado en los últimos años, debido, entre otros factores, a una atención más especializada. MATERIAL Y MÉTODOS: Estudio retrospectivo, observacional y analítico de los pacientes con PTI, en un periodo de 3 años, en una consulta especializada en Hematología Pediátrica. RESULTADOS: Desde el punto de vista epidemiológico, clínico y analítico, las características de esta serie son similares a las de otros grupos. La mayoría de los pacientes (23/31; 74,2%) presentaron una PTI de duración menor de 12 meses, sin complicaciones graves relacionadas con la enfermedad ni con el tratamiento. Se establecieron como factores de riesgo relacionados con una evolución tórpida (supervivencia libre de eventos [SLE] menor), sin alcanzar la significación estadística, el sexo femenino, la edad mayor de 10 años, la leucopenia, la ausencia de trombocitopenia grave inicial y la atención no especializada. La ausencia de antecedente de infección se relacionó significativamente con una SLE menor. CONCLUSIONES: Los factores de riesgo de evolución tórpida de PTI epidemiológicos y analíticos de este estudio coinciden con los descritos en la literatura. Presentaron una SLE menor los pacientes tratados antes del inicio de la atención especializada. Estos datos parecen apoyar la recomendación actual de que las enfermedades poco frecuentes, como esta, se controlen en unidades especializadas
INTRODUCTION: Although primary immune thrombocytopenia (ITP) is rare in childhood, it is the most frequent cause of thrombocytopenia. There have been attempts to establish risk factors to predict the progression of the disease in order to optimise its management, which has changed in recent years due to, among other reasons, specialised care. MATERIAL AND METHODS: A retrospective, observational and analytical study was conducted on patients diagnosed with ITP over a 3-year period in a Paediatric Haematology specialist clinic. RESULTS: From the epidemiological, clinical and analytical point of view, the characteristics of this group are similar to others. Most of the patients (23/31, 74.2%) had ITP for less than 12 months, with there being no serious complications related to the disease or the treatment received. It was established that risk factors were related to being slowly evolving (lower event-free survival (EFS)) with no statistical significance, female gender, age over 10 years, leukopenia absence of initial severe thrombocytopenia, and non-specialised care. The absence of a history of infection was significantly related to a lower EFS. CONCLUSIONS: The epidemiological and analytical risk factors for a slowly evolving ITP are the same that described in the literature. Patients treated before the beginning of specialised care also had a lower EFS. These data seem to support the current recommendation that rare diseases should be managed in specialised units
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Purpura, Thrombocytopenic, Idiopathic/diagnosis , Disease Progression , Prognosis , Purpura, Thrombocytopenic, Idiopathic/complications , Purpura, Thrombocytopenic, Idiopathic/epidemiology , Purpura, Thrombocytopenic, Idiopathic/therapy , Retrospective Studies , Risk Factors , Spain/epidemiologyABSTRACT
INTRODUCTION: Although primary immune thrombocytopenia (ITP) is rare in childhood, it is the most frequent cause of thrombocytopenia. There have been attempts to establish risk factors to predict the progression of the disease in order to optimise its management, which has changed in recent years due to, among other reasons, specialised care. MATERIAL AND METHODS: A retrospective, observational and analytical study was conducted on patients diagnosed with ITP over a 3-year period in a Paediatric Haematology specialist clinic. RESULTS: From the epidemiological, clinical and analytical point of view, the characteristics of this group are similar to others. Most of the patients (23/31, 74.2%) had ITP for less than 12 months, with there being no serious complications related to the disease or the treatment received. It was established that risk factors were related to being slowly evolving (lower event-free survival (EFS)) with no statistical significance, female gender, age over 10 years, leukopenia absence of initial severe thrombocytopenia, and non-specialised care. The absence of a history of infection was significantly related to a lower EFS. CONCLUSIONS: The epidemiological and analytical risk factors for a slowly evolving ITP are the same that described in the literature. Patients treated before the beginning of specialised care also had a lower EFS. These data seem to support the current recommendation that rare diseases should be managed in specialised units.
Subject(s)
Purpura, Thrombocytopenic, Idiopathic/diagnosis , Adolescent , Child , Child, Preschool , Disease Progression , Female , Humans , Infant , Infant, Newborn , Male , Prognosis , Purpura, Thrombocytopenic, Idiopathic/complications , Purpura, Thrombocytopenic, Idiopathic/epidemiology , Purpura, Thrombocytopenic, Idiopathic/therapy , Retrospective Studies , Risk Factors , Spain/epidemiologyABSTRACT
Cernunnos/XLF deficiency is a rare primary immunodeficiency classified within the DNA repair defects. Patients present with severe growth retardation, microcephaly, lymphopenia and increased cellular sensitivity to ionizing radiation. Here, we describe two unrelated cases with the same non-sense mutation in the NHEJ1 gene showing significant differences in clinical presentation and immunological profile but a similar DNA repair defect.
Subject(s)
DNA Repair Enzymes/deficiency , DNA Repair Enzymes/genetics , DNA-Binding Proteins/deficiency , DNA-Binding Proteins/genetics , Phenotype , Rare Diseases/genetics , Severe Combined Immunodeficiency/genetics , Antibodies/blood , B-Lymphocytes , Child , Codon, Nonsense , DNA Breaks, Double-Stranded , DNA End-Joining Repair/genetics , Fibroblasts/radiation effects , Follow-Up Studies , Hematopoietic Stem Cell Transplantation , Homozygote , Humans , Infant , Intellectual Disability/diagnosis , Lymphopenia/diagnosis , Microcephaly/diagnosis , Pedigree , Radiation Tolerance , Rare Diseases/diagnosis , Rare Diseases/pathology , Rare Diseases/therapy , Severe Combined Immunodeficiency/diagnosis , Severe Combined Immunodeficiency/pathology , Severe Combined Immunodeficiency/therapy , T-Lymphocytes , Treatment OutcomeABSTRACT
No disponible
Subject(s)
Humans , Female , Infant , Histiocytosis, Langerhans-Cell/diagnosis , Exanthema/etiology , Vinblastine/therapeutic use , Prednisone/therapeutic useABSTRACT
La enfermedad granulomatosa crónica es una inmunodeficiencia primaria, con una incidencia de 1/200 000-250 000recién nacidos vivos. Afecta, principalmente, a varones; la mayoría de las mutaciones son ligadas al cromosoma X y las formas autosómicas recesivas ocurren, con más frecuencia, en comunidades con mayor número de matrimonios consanguíneos. Se caracteriza por sensibilidad a infecciones recurrentes y graves, bacterianas y fúngicas, con formación de granulomas, debido a la incapacidad de los fagocitos para generar compuestos reactivos de oxígeno, necesarios para la muerte intracelular de microorganismos fagocitados. Se presentan tres casos de enfermedad granulomatosa crónica en los que se aisló Serratia marcescens y, tras una anamnesis minuciosa y obtener resultados de pruebas de funcionalidad de neutrófilos, se llegó a un diagnóstico molecular de la enfermedad. La enfermedad granulomatosa crónica puede manifestarse de formas muy variadas, por lo que el alto índice de sospecha y una buena anamnesis son fundamentales para alcanzar un diagnóstico.
Chronic granulomatous disease (CGD) is a primary immunodeficiency with an incidence of 1/200,000-250,000 live births. CGD affects mainly male patients, most of the mutations being X-linked, and autosomal recessive forms occur more frequently in communities with greater numbers of consanguineous marriages. CGD is characterized by sensitivity to recurrent and severe bacterial and fungal infections, with formation of granulomas due to the inability of phagocytes to generate reactive oxygen compounds, necessary for the intracellular death of phagocytic microorganisms. We report three cases of CGD in which Serratia marcescens was isolated, and after detailed anamnesis and performance of neutrophil function tests, a molecular diagnosis of the disease was reached. CGD can be manifested in a wide variety of ways, so that high suspicion and a meticulous anamnesis are essential to reach a diagnosis.
Subject(s)
Humans , Male , Child, Preschool , Child , Adolescent , Serratia Infections/immunology , Granulomatous Disease, Chronic/complications , Granulomatous Disease, Chronic/diagnosisABSTRACT
Chronic granulomatous disease (CGD) is a primary immunodeficiency with an incidence of 1/200,000-250,000 live births. CGD affects mainly male patients, most of the mutations being X-linked, and autosomal recessive forms occur more frequently in communities with greater numbers of consanguineous marriages. CGD is characterized by sensitivity to recurrent and severe bacterial and fungal infections, with formation of granulomas due to the inability of phagocytes to generate reactive oxygen compounds, necessary for the intracellular death of phagocytic microorganisms. We report three cases of CGD in which Serratia marcescens was isolated, and after detailed anamnesis and performance of neutrophil function tests, a molecular diagnosis of the disease was reached. CGD can be manifested in a wide variety of ways, so that high suspicion and a meticulous anamnesis are essential to reach a diagnosis.
La enfermedad granulomatosa crónica es una inmunodeficiencia primaria, con una incidencia de 1/200 000-250 000 recién nacidos vivos. Afecta, principalmente, a varones; la mayoría de las mutaciones son ligadas al cromosoma X y las formas autosómicas recesivas ocurren, con más frecuencia, en comunidades con mayor número de matrimonios consanguíneos. Se caracteriza por sensibilidad a infecciones recurrentes y graves, bacterianas y fúngicas, con formación de granulomas, debido a la incapacidad de los fagocitos para generar compuestos reactivos de oxígeno, necesarios para la muerte intracelular de microorganismos fagocitados. Se presentan tres casos de enfermedad granulomatosa crónica en los que se aisló Serratia marcescens y, tras una anamnesis minuciosa y obtener resultados de pruebas de funcionalidad de neutrófilos, se llegó a un diagnóstico molecular de la enfermedad. La enfermedad granulomatosa crónica puede manifestarse de formas muy variadas, por lo que el alto índice de sospecha y una buena anamnesis son fundamentales para alcanzar un diagnóstico.
Subject(s)
Granulomatous Disease, Chronic/complications , Serratia Infections/immunology , Adolescent , Child , Child, Preschool , Granulomatous Disease, Chronic/diagnosis , Humans , MaleABSTRACT
La anemia es frecuente en lactantes, y, aunque su causa, habitualmente, es banal, debe establecerse un diagnóstico etiológico adecuado. Cuando la anemia es arregenerativa, puede deberse a aplasia medular, síndrome mielodisplásico, infiltración medular o déficits de factores hematopoyéticos. Otra posible causa es el síndrome de Pearson, una rara enfermedad mitocondrial que se presenta con anemia asociada a otras citopenias, insuficiencia pancreática, acidosis láctica y gran variabilidad en su presentación clínica condicionada por la heteroplasmia. Es característico encontrar en el aspirado/biopsia de médula ósea vacuolización de los precursores de serie roja y sideroblastos en anillo. El diagnóstico de certeza se establece mediante el estudio genético del ácido desoxirribonucleico mitocondrial con Southern blot (amplificación completa de ácido desoxirribonucleico mitocondrial mediante reacción en cadena de la polimerasa-largo), que obtiene deleción del 70%-80% de 4977 pb (DNAm 8343-13459). No existe tratamiento curativo y las medidas son de soporte. Es frecuente el fallecimiento en los primeros años de vida. Se presentan dos casos de lactantes con síndrome de Pearson.
Anemia is very common in infants. Although its causes are usually not severe and treatable, proper etiologic diagnosis should be established. When anemia is non-regenerative, it can be caused by aplastic anemia, myelodysplastic syndrome, bone marrow infiltration or hematopoietic factors deficiencies. Another possible cause is Pearson's syndrome, a rare mitochondrial disease that causes non-regenerative anemia associated with other cytopenias, pancreatic insufficiency, lactic acidosis and great variability in clinical presentation conditioned by heteroplasmy. It is characteristic to find in bone marrow studies variable vacuolization in erythroblastic progenitors and ring sideroblasts. The diagnosis is established by genetic study of mitochondrial deoxyribonucleic acid performed by Southern blot analysis (complete mitochondrial deoxyribonucleic acid amplification by polymerase chain reaction -long), obtaining 70-80% deletion of 4977 bp (NMD 8343-13459). There is no curative therapy and support treatment is the only available nowadays. Death is frequent in early years of life. Two cases of infants with Pearson syndrome are presented.
Subject(s)
Humans , Male , Infant , Mitochondrial Diseases/diagnosis , Anemia/diagnosis , SyndromeABSTRACT
Anemia is very common in infants. Although its causes are usually not severe and treatable, proper etiologic diagnosis should be established. When anemia is non-regenerative, it can be caused by aplastic anemia, myelodysplastic syndrome, bone marrow infiltration or hematopoietic factors deficiencies. Another possible cause is Pearson's syndrome, a rare mitochondrial disease that causes non-regenerative anemia associated with other cytopenias, pancreatic insufficiency, lactic acidosis and great variability in clinical presentation conditioned by heteroplasmy. It is characteristic to find in bone marrow studies variable vacuolization in erythroblastic progenitors and ring sideroblasts. The diagnosis is established by genetic study of mitochondrial deoxyribonucleic acid performed by Southern blot analysis (complete mitochondrial deoxyribonucleic acid amplification by polymerase chain reaction -long), obtaining 70-80% deletion of 4977 bp (NMD 8343-13459). There is no curative therapy and support treatment is the only available nowadays. Death is frequent in early years of life.
La anemia es frecuente en lactantes, y, aunque su causa, habitualmente, es banal, debe establecerse un diagnóstico etiológico adecuado. Cuando la anemia es arregenerativa, puede deberse a aplasia medular, síndrome mielodisplásico, infiltración medular o déficits de factores hematopoyéticos. Otra posible causa es el síndrome de Pearson, una rara enfermedad mitocondrial que se presenta con anemia asociada a otras citopenias, insuficiencia pancreática, acidosis láctica y gran variabilidad en su presentación clínica condicionada por la heteroplasmia. Es característico encontrar en el aspirado/biopsia de médula ósea vacuolización de los precursores de serie roja y sideroblastos en anillo. El diagnóstico de certeza se establece mediante el estudio genético del ácido desoxirribonucleico mitocondrial con Southern blot (amplificación completa de ácido desoxirribonucleico mitocondrial mediante reacción en cadena de la polimerasa-largo), que obtiene deleción del 70%-80% de 4977 pb (DNAm 8343-13459). No existe tratamiento curativo y las medidas son de soporte. Es frecuente el fallecimiento en los primeros años de vida. Se presentan dos casos de lactantes con síndrome de Pearson
Subject(s)
Anemia/diagnosis , Mitochondrial Diseases/diagnosis , Humans , Infant , Male , SyndromeABSTRACT
No disponible
Subject(s)
Humans , Infant , Child, Preschool , Metapneumovirus/isolation & purification , Paramyxoviridae Infections/microbiology , Respiratory Tract Infections/microbiology , 50293 , Retrospective StudiesSubject(s)
Carcinoma, Adenosquamous/diagnosis , Liver Neoplasms/diagnosis , Mismatch Repair Endonuclease PMS2/genetics , Mutation , Rectal Neoplasms/diagnosis , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Carcinoma, Adenosquamous/drug therapy , Carcinoma, Adenosquamous/genetics , Child , Fatal Outcome , Humans , Liver Neoplasms/drug therapy , Liver Neoplasms/genetics , Liver Neoplasms/secondary , Rectal Neoplasms/drug therapy , Rectal Neoplasms/geneticsABSTRACT
La azatioprina es un fármaco inmunosupresor que ha demostrado efectividad en el tratamiento de la enfermedad inflamatoria intestinal. Su metabolito, la 6-mercaptopurina, es metaboliza-do a través de la tiopurina metiltransferasa. Los pacientes con baja actividad enzimática pueden presentar mayores efectos secundarios. El más frecuente es la leucopenia. Más raramente, aparece mielotoxicidad en forma de pancitopenia. La monitori-zación de la actividad de la tiopurina metiltransferasa permite obtener un perfil individualizado de la actividad enzimática, pero no debe reemplazar la monitorización mediante la realización de hemogramas seriados. Ante un paciente con neutropenia grave y fiebre, debe iniciarse un tratamiento antibiótico empírico precoz para evitar infecciones graves y diseminadas. Se presentan dos casos con esta complicación.
Azathioprine is an immunosuppressive drug that has shown effectiveness in inflammatory bowel disease treatment. Its metabolite, 6-mercaptopurine, is metabolized through thiopurine methyltransferase. Patients with low enzyme activity may have more frequent and severe side effects. The most common is leukopenia, and rarely pancytopenia. The thiopurine methyltransferase activity monitoring shows an individualized profile of enzymatic activity but it should not replace monitoring by performing serial blood counts. In patients with fever and severe neutropenia, early empirical antibiotic treatment should be initiated to prevent severe and disseminated infection. Two patients with this condition are reported.
Subject(s)
Humans , Female , Adolescent , Pancytopenia/chemically induced , Azathioprine/adverse effects , Immunosuppressive Agents/adverse effectsABSTRACT
Azathioprine is an immunosuppressive drug that has shown effectiveness in inflammatory bowel disease treatment. Its metabolite, 6-mercaptopurine, is metabolized through thiopurine methyltransferase. Patients with low enzyme activity may have more frequent and severe side effects. The most common is leukopenia, and rarely pancytopenia. The thiopurine methyltransferase activity monitoring shows an individualized profile of enzymatic activity but it should not replace monitoring by performing serial blood counts. In patients with fever and severe neutropenia, early empirical antibiotic treatment should be initiated to prevent severe and disseminated infection. Two patients with this condition are reported.
La azatioprina es un fármaco inmunosupresor que ha demostrado efectividad en el tratamiento de la enfermedad inflamatoria intestinal. Su metabolito, la 6-mercaptopurina, es metaboliza-do a través de la tiopurina metiltransferasa. Los pacientes con baja actividad enzimática pueden presentar mayores efectos secundarios. El más frecuente es la leucopenia. Más raramente, aparece mielotoxicidad en forma de pancitopenia. La monitori-zación de la actividad de la tiopurina metiltransferasa permite obtener un perfil individualizado de la actividad enzimática, pero no debe reemplazar la monitorización mediante la realización de hemogramas seriados. Ante un paciente con neutropenia grave y fiebre, debe iniciarse un tratamiento antibiótico empírico precoz para evitar infecciones graves y diseminadas. Se presentan dos casos con esta complicación.
