Manifestaciones atípicas de la infección por parvovirus B19 / Unusual presentations of parvovirus B19 infection

La principal manifestación de la primoinfección por parvovirus B19 suele ser el eritema infeccioso. La mayoría de las infecciones ocurren durante la infancia y la adolescencia, con una seroprevalencia cercana al 50% a los 20 años de edad. Aunque la infección primaria suele ser leve y de resolución espontánea, en ocasiones puede presentarse de forma atípica, en forma de artropatía, citopenias o distrés respiratorio (AU)

The most common clinical feature of parvovirus B19 primary infection is the erythema infectiosum. Most of the infections occur during childhood and adolescence, the seroprevalence is approximately 50% at 20 years of age. Although the primary infection is mild and self-limited, there are unusual presentations, such as arthropathy, cytopenias or acute lung injury (AU)

Síndrome hereditario de hiperferritinemia y cataratas: mutación de novo / Hereditary hyperferritinemia and cataract syndrome: a de novo mutation

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Anemia falciforme. Manejo en Atención Primaria / No disponible

La anemia falciforme es una hemoglobinopatía estructural de origen genético, caracterizadapor la presencia de hemoglobina S, que, debido a la presión inmigratoria, es cada vez másfrecuente en nuestro medio. La hemoglobina anormal es inestable, tiende a polimerizarse yocluir la microcirculación, produciendo manifestaciones multisistémicas tanto agudas comocrónicas, y aumenta la susceptibilidad a infecciones. Se comentan la genética, la fisiopatología,el diagnóstico clínico y de laboratorio, el cribado neonatal, el manejo adecuado de los principalesproblemas agudos –ya que algunos pueden desarrollar rápidamente complicaciones queafectan a la vida del paciente–, pautas de seguimiento, programa de inmunizaciones y tratamiento.Dada la complejidad de la enfermedad es necesario plantear un manejo multidisciplinary coordinado entre la Atención Primaria y la Especializada que incluya la realización decontroles periódicos completos, así como la educación del paciente y de su familia, ya que todoello disminuye la morbilidad y la mortalidad y mejora la calidad de vida de estos pacientes

Sickle cell disease is a genetic structural haemoglobinopathy characterized by the presenceof haemoglobin S that is becoming more prevalent in our environment because of the presentimmigrating pressure. The abnormal haemoglobin is unstable, tends to polymerize occludingthe microcirculation what produces acute and chronic multisystem manifestations andincreases the susceptibility of infections. Genetic aspects, physiopathology, clinical and laboratorydiagnosis, neonatal screening, appropriate care of the main acute manifestations as lifethreateningcomplications that may develop rapidly, a follow-up plan, immunizations and treatmentare discussed. Due to the complexity of the disease a multidisciplinary care isnecessary coordinating primary care with specialized clinical management that includes periodiccomprehensive evaluations and patient and family education as this decreases morbidityand mortality and improves quality of life for these patients (AU)

Síndrome de activación de macrófagos: una entidad que debe considerarse dentro de la linfohistiocitosis hemofagocítica / Macrophage activation syndrome: a disease that should be considered as hemophagocytic lymphohistiocytosis

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[Evaluation of twenty-three episodes of acute thoracic syndrome in patients with sickle cell anemia]. / Evaluación de veintitrés episodios de síndrome torácico agudo en pacientes con drepanocitosis.

INTRODUCTION: Acute thoracic syndrome (pneumonia and/or lung infarction) is a significant cause of morbidity and mortality in sickle cell anemia. OBJECTIVE: To review the clinical manifestations, management and outcome of episodes of acute thoracic syndrome in our hospital. METHODS: We performed a retrospective review of all the episodes of acute thoracic syndrome diagnosed at our center in patients younger than 18 years of age with sickle cell anemia. Clinical, laboratory and radiological findings, outcome and treatment were analyzed. Data from patients < 3 years and > 3 years of age were compared (Fisher's exact test and the Mann-Whitney U test). RESULTS: Twenty-three episodes of acute thoracic syndrome were evaluated in eight out of 12 patients with sickle cell anemia followed-up in our hospital. These episodes represented 36 % of the total time of admission in these patients. The most frequent cause was infection. The most frequent symptoms were fever (87 %), cough (61 %) and cold (35 %) symptoms. Seventy-four percent of the patients were not diagnosed at admission, either because the chest X-ray was normal (52 %) or because it was not performed (22 %) due to the absence of pulmonary manifestations. Patients aged more than 3 years old had more severe episodes, with greater clinical compromise and radiological involvement and increased use of analgesia. Transfusions were administered in 65 % of the episodes and in five patients (> 3 years) a partial exchange transfusion was performed. In five patients corticoid treatment was associated with febrile relapses. CONCLUSIONS: Acute thoracic syndrome is frequent in sickle cell disease and is more severe in children older than 3 years. Its diagnosis requires a high index of suspicion, due to multiple forms of clinical presentations and normal chest radiology at admission.

Evaluación de veintitrés episodios de síndrome torácico agudo en pacientes con drepanocitosis / Evaluation of twenty-three episodes of acute thoracic syndrome in patients with sickle cell anemia

Introducción: El síndrome torácico agudo (neumonía y/o infarto pulmonar) es una causa importante de morbimortalidad en la drepanocitosis. Objetivo: Revisar la sintomatología y el manejo de estos episodios en nuestro medio y estudiar las posibles diferencias por grupos de edad. Métodos: Revisión restrospectiva de todos los episodios de síndrome torácico agudo diagnosticados en nuestro hospital en pacientes menores de 18 años con drepanocitosis, y analizar los hallazgos clínicos, analíticos, radiológicos, evolutivos y de tratamiento. Se compararon los datos entre los menores y mayores de 3 años (test exacto de Fisher y U de Mann-Whitney). Resultados: Se evaluaron 23 episodios en 8 de 12 pacientes controlados por drepanocitosis. Los episodios representaron el 36% del tiempo total de ingreso en estos pacientes. La etiología predominante fue la infección. Los síntomas más frecuentes fueron fiebre (87 %), tos (61 %) y síntomas catarrales (35 %). El 74% de los pacientes no fueron diagnosticados al ingreso, bien porque la radiografía de tórax era normal (52 %) o no se realizó (22 %) al no presentar sintomatología pulmonar. Los mayores de 3 años tuvieron episodios más graves, con mayor compromiso radiológico y clínico y mayor empleo de analgesia. Se administraron transfusiones en el 65 % de los episodios y en cinco (> 3 años) se realizó exanguino-transfusión parcial. El tratamiento con corticoides en 5 pacientes se asoció a recaídas febriles. Conclusiones: El síndrome torácico agudo es frecuente en la drepanocitosis y es más grave en mayores de 3 años. El diagnóstico exige un alto índice de sospecha, debido a las múltiples formas de presentación y a la frecuente normalidad del estudio radiológico inicial

Introduction: Acute thoracic syndrome (pneumonia and/or lung infarction) is a significant cause of morbidity and mortality in sickle cell anemia. Objective: To review the clinical manifestations, management and outcome of episodes of acute thoracic syndrome in our hospital. Methods: We performed a retrospective review of all the episodes of acute thoracic syndrome diagnosed at our center in patients younger than 18 years of age with sickle cell anemia. Clinical, laboratory and radiological findings, outcome and treatment were analyzed. Data from patients 3 years of age were compared (Fisher’s exact test and the Mann-Whitney U test). Results Twenty-three episodes of acute thoracic syndrome were evaluated in eight out of 12 patients with sickle cell anemia followed-up in our hospital. These episodes represented 36 % of the total time of admission in these patients. The most frequent cause was infection. The most frequent symptoms were fever (87%), cough (61%) and cold (35%) symptoms. Seventy-four percent of the patients were not diagnosed at admission, either because the chest X-ray was normal (52%) or because it was not performed (22%) due to the absence of pulmonary manifestations. Patients aged more than 3 years old had more severe episodes, with greater clinical compromise and radiological involvement and increased use of analgesia. Transfusions were administered in 65% of the episodes and in five patients (> 3 years) a partial exchange transfusion was performed. In five patients corticoid treatment was associated with febrile relapses. Conclusions: Acute thoracic syndrome is frequent in sickle cell disease and is more severe in children older than 3 years. Its diagnosis requires a high index of suspicion, due to multiple forms of clinical presentations and normal chest radiology at admission -in 1987 did not increase cases of TM in our hospital; on the contrary, these have decreased. A considerable percentage of children with advanced stages of TM show severe sequels

Cáncer. Panorámica general. Aspectos básicos de la epidemiología, etiología, genética y diagnóstico / Cancer. General environment. Basic aspects of epydemiology, aetiology, genetics and diagnosis

El cáncer infantil es raro, representando menos del 1% de todas las enfermedades malignasdiagnosticadas anualmente, pero es la enfermedad que origina más muertes entre los0 y los 14 años de edad, con una incidencia de 140/1.000.000 niños. La supervivencia globalactual ha sobrepasado el 75%. Los principales avances en la investigación del cáncerhan tenido lugar en los campos de la Genética y la Biología Molecular, en el conocimientode los mecanismos moleculares que dan origen al cáncer a nivel celular. Eso ha contribuidoa un mejor diagnóstico y tratamiento. Se comentan las bases epidemiológicas de los diferentestipos de cáncer infantil, su etiología tanto en sus aspectos genético como medioambiental,así como las enfermedades familiares hereditarias que predisponen al cáncer. Finalmentese comentan aspectos prácticos sobre el diagnóstico del cáncer infantil en AtenciónPrimaria

Childhood cancer is rare, comprising less than 1% of all malignancies diagnosed eachyear, but it is the disease that originates more deaths in children 0-14 years of age, with anannual incidence of 140/1,000,000 children. Actual survival has surpassed 75%. The principaladvances in cancer research have taken place in Genetics and Molecular Biology, inthe knowledge of the molecular mechanisms that originate cancer at the cellular level. Thishas contributed to a better diagnosis and treatment. The epidemiological bases of the differenttypes of childhood cancer, its etiology both in its genetic and environmental aspectsand the familial hereditary cancer predisposing syndromes are discussed. Finally, practicalclues about childhood cancer diagnosis in paediatric primary care are commented

Síndrome congénito de hiperferritinemia y cataratas. Réplica / Congenital hyperferritinemia and cataract syndrome. Reply

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[Isolated hyperferritinemia in a healthy male infant: hereditary hyperferritinemia-cataract syndrome]. / Hiperferritinemia aislada en un lactante sano: síndrome hereditario de hiperferritinemia y cataratas.

The case of a male infant who was found to have hyperferritinemia was made at the age of 3 months is described. The patient and several members of his family from three generations were diagnosed with hereditary hyperferritinemia-cataract syndrome with a new point mutation in the iron-responsive element of the L-ferritin gene. Differential diagnosis of hyperferritinemia is discussed with emphasis on the need for the knowledge of this entity to avoid unnecessary investigations.

Hiperferritinemia aislada en un lactante sano: síndrome hereditario de hiperferritinemia y cataratas / Isolated hyperferritinemia in a healthy male infant: hereditary hyperferritinemia-cataract syndrome

Se describe el caso de un lactante varón con hallazgo casual de hiperferritinemia a los 3 meses, a través del cual se llegó al diagnóstico en varios familiares de 3 generaciones de síndrome hereditario de hiperferritinemia y cataratas, con una nueva mutación puntual en el IRE del gen de la L-ferritina. Se comenta el diagnóstico diferencial de las hiperferritinemias, haciendo hincapié en el conocimiento de esta entidad para evitar exploraciones innecesarias (AU)