ABSTRACT
Mutations in PIK3R1 gene have been associated to two different conditions: a primary immunodeficiency, called APDS2, of recent description and SHORT syndrome. 47 patients with APDS2 have been reported to date, only one of them sharing both PIK3R1-related phenotypes. Here we describe two more patients affected by APDS2 and SHORT syndrome, which highlights that this association may not be so infrequent. We recommend that patients with mutations in PIK3R1 gene should be assessed by both clinical immunologists and clinical geneticists.
Subject(s)
Growth Disorders/genetics , Hypercalcemia/genetics , Immunologic Deficiency Syndromes/genetics , Metabolic Diseases/genetics , Nephrocalcinosis/genetics , Phosphatidylinositol 3-Kinases/genetics , Child , Class I Phosphatidylinositol 3-Kinases/genetics , Class Ia Phosphatidylinositol 3-Kinase , Humans , Infant , Male , Mutation , Primary Immunodeficiency DiseasesABSTRACT
Los feocromocitomas y los paragangliomas son tumores neuroendocrinos infrecuentes en pediatría; sin embargo, estos representan el tumor endocrino más frecuente en la infancia. La mayoría son esporádicos, cobrando mayor relevancia los síndromes familiares en edad pediátrica. Los avances en el campo de la genética, en bioquímica y en técnicas de imagen han adaptado el manejo de estos tumores; de modo que el estudio bioquímico debe comenzarse ante todo diagnóstico clínico de sospecha, seguido del estudio por imagen y molecular, más aún ante la existencia de un síndrome familiar conocido. Revisamos aspectos clínicos, diagnósticos y terapéuticos a propósito de 2 casos, presentando el segundo paciente antecedentes de neurofibromatosis tipo 1
Pheochromocytomas and paragangliomas are rare neuroendocrine tumors in children and most of them are sporadic. However, they represent the most common endocrine tumor in childhood, and hereditary tumor syndromes are most relevant in these age. Advances in genetic, biochemistry and imaging techniques have revised the management of these tumors; thus A biochemical study should be always initiated once the clinical diagnosis is suspected, followed by imaging and molecular studies, particularly in the context of known familial disease. The diagnostic and therapeutic features are reviewed after the presentation of two clinicalcases, where the second one is a patient with type 1 Neurofibromatosis
Subject(s)
Humans , Female , Child , Pheochromocytoma/congenital , Pheochromocytoma/diagnosis , Pheochromocytoma/metabolism , Headache/chemically induced , Headache/complications , Headache/metabolism , Hypertension/diagnosis , Neurofibromatosis 1/genetics , Pheochromocytoma/chemically induced , Pheochromocytoma/complications , Pheochromocytoma/prevention & control , Headache/mortality , Headache/prevention & control , Hypertension/complications , Neurofibromatosis 1/diagnosisABSTRACT
Pheochromocytomas and paragangliomas are rare neuroendocrine tumors in children and most of them are sporadic. However, they represent the most common endocrine tumor in childhood, and hereditary tumor syndromes are most relevant in these age. Advances in genetic, biochemistry and imaging techniques have revised the management of these tumors; thus A biochemical study should be always initiated once the clinical diagnosis is suspected, followed by imaging and molecular studies, particularly in the context of known familial disease. The diagnostic and therapeutic features are reviewed after the presentation of two clinical cases, where the second one is a patient with type 1 Neurofibromatosis.
Subject(s)
Adrenal Gland Neoplasms , Paraganglioma , Pheochromocytoma , Adolescent , Adrenal Gland Neoplasms/diagnosis , Adrenal Gland Neoplasms/therapy , Female , Humans , Paraganglioma/diagnosis , Paraganglioma/therapy , Pheochromocytoma/diagnosis , Pheochromocytoma/therapyABSTRACT
El síndrome de encefalopatía posterior reversible, previamente conocido como leucoencefalopatía posterior reversible, es una entidad manifestada clínicamente por cefalea, disminución del nivel de conciencia, convulsiones y alteraciones visuales, y radiológicamente como edema cerebral, predominantemente de la sustancia blanca de regiones parietooccipitales en la resonancia magnética. Son múltiples las situaciones que pueden desencadenar el cuadro. Exponemos 5 casos de pacientes oncológicos, 4 de ellos con leucemia linfoblástica aguda, que desarrollaron el síndrome cuando se encontraban bajo tratamiento quimioterápico. Un diagnóstico precoz y un adecuado tratamiento de la hipertensión y las convulsiones son la base para evitar la aparición de secuelas en estos pacientes
Posterior reversible encephalopathy syndrome, previously known as Reversible posterior leukoencephalopathy syndrome, is a clinical-radiological condition characterized by headache, altered mental functioning, seizures and visual alterations, with the magnetic resonance imaging showing cerebral edema, predominantly in the white matter with posterior distribution. Multiple clinical conditions can act as triggers. We present five oncology patients, four of them with acute lymphoblastic leukemia, receiving chemotherapy when they presented with this pathology. A prompt diagnosis, an appropriate therapy for hypertension, and a rapid control of the seizures are the keys to avoiding sequelae
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Leukoencephalopathies/chemically induced , Antineoplastic Agents/adverse effects , Brain Edema/chemically induced , Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy , Magnetic Resonance Spectroscopy , Intracranial Hypertension/etiologyABSTRACT
Posterior reversible encephalopathy syndrome, previously known as Reversible posterior leukoencephalopathy syndrome, is a clinical-radiological condition characterized by headache, altered mental functioning, seizures and visual alterations, with the magnetic resonance imaging showing cerebral edema, predominantly in the white matter with posterior distribution. Multiple clinical conditions can act as triggers. We present five oncology patients, four of them with acute lymphoblastic leukemia, receiving chemotherapy when they presented with this pathology. A prompt diagnosis, an appropriate therapy for hypertension, and a rapid control of the seizures are the keys to avoiding sequelae.
Subject(s)
Antineoplastic Agents/adverse effects , Posterior Leukoencephalopathy Syndrome/chemically induced , Child , Child, Preschool , Female , Humans , MaleABSTRACT
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)
Subject(s)
Humans , Male , Female , Child , Asparaginase/therapeutic use , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/drug therapy , Hodgkin Disease/drug therapy , Molecular Targeted Therapy/methods , Antineoplastic Agents/therapeutic use , Pancreatitis/chemically induced , Chemical and Drug Induced Liver InjuryABSTRACT
No disponible
Subject(s)
Humans , Female , Adolescent , Anemia, Hemolytic/etiology , Hemoglobinopathies/complications , Splenomegaly/etiology , Cat-Scratch Disease/diagnosisABSTRACT
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.
Subject(s)
Antineoplastic Agents/therapeutic use , Asparaginase/therapeutic use , Lymphoma, Non-Hodgkin/drug therapy , Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy , Child , HumansSubject(s)
Anemia, Hemolytic/etiology , Hemoglobins, Abnormal , Splenomegaly/etiology , Adolescent , Female , HumansABSTRACT
El tumor miofibroblástico inflamatorio es una enfermedad poco frecuente en la edad pediátrica, en general benigna, aunque con posible evolución a malignidad. Se presentan 3 pacientes con tumor miofibroblástico en edad pediátrica, en diferentes localizaciones: pulmonar, gástrica e intestinal. Las características clínicas dependen del lugar en el que esté ubicado el tumor. Generalmente, hay fiebre prolongada en todos, sin gran afectación del estado general. En el primer caso, la hematemesis era su primer síntoma, mientras que en el segundo la anemia y la fiebre obligaron a la realización de una imagen abdominal. En el tercer caso fueron la fiebre, la tos y los síntomas respiratorios los que alertaban acerca de una posible tumoración pulmonar. En este caso se obtuvo un cultivo positivo para una micobacteria atípica: Mycobacterium avium. Todos los casos cursan con aumento de proteína C reactiva, velocidad de sedimentación globular, anemia, trombocitosis y aumento de gammaglobulinas. La evolución es favorable; la cirugía es curativa siempre y cuando la resección sea total; el diagnóstico es anatomopatológico. Los autores quieren destacar la precocidad en el diagnóstico de uno de los pacientes (3 meses), dato no hallado en la literatura médica (AU)
There cases of paediatric inflammatory myofibroblastic tumours in different locations are presented. This a rare benign disease, that can develop into malignant forms. Clinical features are associated with the location. Fever was the main symptom in all our cases. The symptoms that indicated the location of the tumour were, haematemesis in the first case, and respiratory disease in the third. ,In the third case our patient was diagnosed with tuberculosis due to mycobacterium avium. All cases had increased CRP, ESR, thrombocytosis and high levels of gamma globulins. Surgery is curative if total resection is possible, and the diagnosis is made by histopathology. We would like to emphasise the early development in the second case as this was a 3 months-old infant (AU)
Subject(s)
Humans , Male , Female , Infant , Child , Neoplasms, Muscle Tissue/diagnosis , Mycobacterium avium/isolation & purification , C-Reactive Protein/analysis , Anemia/diagnosis , Thrombocytosis/diagnosis , gamma-GlobulinsSubject(s)
Humans , Male , Child, Preschool , Thyroiditis, Suppurative/diagnosis , Actinomyces/pathogenicity , Abscess/etiologyABSTRACT
Reversible posterior leukoencephalopathy syndrome is a clinical-radiological phenomenon associated with headache, vomiting, lethargy, visual disturbances and seizures, concomitant with radiological abnormalities predominantly within posterior cerebral white matter due to cerebral edema. There are multiple triggers as acute hypertension, cancer, hematological disease, renal pathology, red cells transfusions and different drugs. We present two patients with reversible posterior leukoencephalopathy under treatment for acute lymphoblastic leukemia because of the probable association with vinca alkaloids.
Subject(s)
Antineoplastic Agents, Phytogenic/adverse effects , Posterior Leukoencephalopathy Syndrome/pathology , Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy , Antineoplastic Agents, Phytogenic/therapeutic use , Child , Female , Humans , Posterior Leukoencephalopathy Syndrome/chemically inducedABSTRACT
La leucoencefalopatía posterior reversible (LEPR) es un síndrome clínico-radiológico caracterizado por cefalea, vómitos, alteración de conciencia, problemas visuales y convulsiones, que presenta de forma concomitante lesiones radiológicas, fundamentalmente en las regiones posteriores de la sustancia blanca debido al edema cerebral existente. Este cuadro se asocia a múltiples situaciones médicas, como hipertensión arterial aguda, cáncer, enfermedades hematológicas, enfermedad renal, transfusión de glóbulos rojos y múltiples fármacos, como inmunosupresores, y citostáticos, entre otras causas. Presentamos dos casos en niños con leucemia aguda linfoblástica (LLA), asociados probablemente a utilización de vincristina (AU)
Reversible posterior leukoencephalopathy syndrome is a clinical-radiological phenomenon associated with headache, vomiting, lethargy, visual disturbances and seizures, concomitant with radiological abnormalities predominantly within posterior cerebral white matter due to cerebral edema. There are multiple triggers as acute hypertension, cancer, hematological disease, renal pathology, red cells transfusions and different drugs. We present two patients with reversible posterior leukoencephalopathy under treatment for acute lymphoblastic leukemia because of the probable association with vinca alkaloids (AU)
Subject(s)
Humans , Female , Child , Vincristine/adverse effects , Vincristine/therapeutic use , Leukoencephalopathy, Progressive Multifocal/chemically induced , Leukoencephalopathy, Progressive Multifocal/complications , Leukoencephalopathy, Progressive Multifocal/diagnosis , Seizures/complications , Seizures/etiology , Risk Factors , Hypertension/complications , Brain Edema/complications , Leukemia, Lymphoid/complications , Sleep-Wake Transition Disorders/complications , Tomography, Emission-Computed/methods , Drug Hypersensitivity/complications , Drug Hypersensitivity/diagnosisSubject(s)
Fever/etiology , Periodicity , Pharyngitis/etiology , Stomatitis, Aphthous/etiology , Child, Preschool , Female , Humans , Lymphadenitis/etiology , SyndromeABSTRACT
No disponible
Subject(s)
Child, Preschool , Child , Humans , Fever/complications , Stomatitis, Aphthous/complications , Fever/diagnosis , Fever/drug therapy , Stomatitis, Aphthous/diagnosis , Stomatitis, Aphthous/drug therapy , Pharyngitis/diagnosis , Pharyngitis/drug therapy , Adrenal Cortex Hormones/therapeutic use , Clinical Diagnosis , Health Care CostsABSTRACT
La púrpura trombocitopénica idiopática (PTI) en la infancia se presenta en más de un 80% de los casos de forma aguda y, escasamente un 20%, evoluciona en un primer momento a formas crónicas. De éstas, a los 2 años de evolución de la enfermedad y tras varias opciones terapéuticas, sólo un 2-3% continúan con trombocitopenias, la mayoría sin repercusión sobre la actividad normal. En estos casos crónicos, el rituximab, anticuerpo monoclonal anti-CD, es una alternativa terapéutica teniendo en cuenta los riesgos de la esplenectomía en niños pequeños. Presentamos resultados de pacientes afectos de PTI crónica, refractaria al tratamiento establecido en el protocolo de la Sociedad Española de Hematología Pediátrica (SEHP, con trombocitopenia menor de ./,,3 plaquetas, tratados con anticuerpo monoclonal anti-CD, Rituximab. Uno de los pacientes, dada la ausencia de respuesta a los tratamientos instaurados y siendo la evolución de la PTI solamente de dos meses, se planteó esta alternativa, teniendo en cuenta además que había siendo diagnosticado y tratado de una enfermedad de Hodgkin dos años antes
Immune Thrombocytopenic purpura in childhood (ITP) clinical presentation is in 80% of cases as acute form and only 20% as chronic. Two years later after different treatments, 2-3% going to chronic ITP, most of them without serious activity. Rituximab, anti-CD20 antibody is an alternative treatmetn so we can avoid the splenectomy in paediatric age. We present 4 patients with chronic ITP, refractory after treatment with protocol of Haematologic Spanish Society, with thrombocytopeny less than 20.000mm3, treated with anti-CD20 antibody, Rituximab. One of them begun the treatment only 2 months after diagnosis because he has a lot of hemorraghic problems and he had been treated of a Hodgkin disease 2 years before