La Unidad de Oncología e Inmunohematología Pediátricas del Hospital Universitario Miguel Servet en 2015 / Pediatric oncology and immunology unit of the Hospital Universitario Miguel Servet in 2015

La Unidad de Oncología e Inmunohematología Pediatricas del Hospital Universitario Miguel Servet (HUMS) de Zaragoza es la única de referencia en la Cornunidad Autónoma de Aragón para el tratamiento integral y seguimiento de los pacientes pediátricos con cáncer y otras enfermedades hematológicas e inmunológicas graves. Asiste, también, a un número importante de pacientes de otras provincias limítrofes con Aragón, como la Rioja y Soria. Las labores asistencial e investigadora de esta Unidad, que se revisaran a continuación, han evolucionado y se han ampliado de forma continua desde su inauguración, hace mas de 30 años (AU)

Hospital Miguel Servet Pediatric Oncology and Immunohematology Unit, is the only reference center in Aragon for the treatment and follow-up of children with cancer and other severe hematological and immunological diseases. It is also responsible for a significant number of patients from nearby regions to Aragon, such as La Rioja and Soria. Its clinical activity and research work, which will be reviewed next, has improved continuously since its opening, over more than 30 years ago (AU)

Melanosis neurocutánea / Neurocutaneous melanosis

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[Neurofibromatosis in children. Our experience]. / Neurofibromatosis en niños. Nuestra experiencia.

INTRODUCTION: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with a high index of spontaneous mutations and extremely varied and unpredictable clinical manifestations. It is diagnosed by the existence of certain clinical criteria which cannot appear until adulthood. PATIENTS AND METHODS: The clinical histories of the confirmed or possible cases of neurofibromatosis (NF) in the neuropaediatric databases at the Hospital Miguel Servet in Zaragoza and at the Hospital General in Guadalajara were analysed retrospectively. RESULTS: Cases were distributed in 46 NF1, six compatible with NF1, 11 with just marks, five with marks and a family history of marks, and two cases of segmentary NF. Among the confirmed cases of NF1, the following alterations were found: optic glioma (OG) in eight, and one of them developed a glioblastoma multiforme, multiple radicular neurofibromas in one, mental retardation in one and learning disorders in 13 of the 29 school aged children, afebrile seizures in three, precocious puberty in two and scoliosis in nine. Brain areas with hypersignals were found in 71% of the cases submitted to magnetic resonance imaging (MRI) (20 out of 28), including seven of the eight patients suffering from OG. DISCUSSION: Our case mix, like all the others, exemplifies the clinical heterogeneity and unpredictable progression of children with NF1 or who are suspected of suffering from it. We followed the most widely used method of clinical and ophthalmological control, and complementary examinations were performed according to the clinical features. If neuroimaging is used, it must be MRI.

Neurofibromatosis en niños. Nuestra experiencia / Neurofibromatosis in children, our experience

Introducción. La neurofibromatosis tipo 1 (NF1) es un trastorno de herencia autosómica dominante, con una elevada tasa de mutaciones espontáneas, y manifestaciones clínicas muy variadas e impredecibles. Se diagnostica por la presencia de unos criterios clínicos, que pueden no aparecer hasta la edad adulta. Pacientes y métodos. Se han analizado retrospectivamente las historias clínicas de los casos de neurofibromatosis (NF) confirmadas o posibles de las bases de datos neuropediátricas del Hospital Miguel Servet de Zaragoza y del Hospital General de Guadalajara. Resultados. Se han distribuido en 46 NF1, seis compatibles con NF1, 11 de sólo manchas, cinco manchas y antecedentes familiares de manchas y dos NF segmentarias. En los casos de NF1 confirmada se han encontrado las siguientes alteraciones: glioma óptico (GO) en ocho (uno de ellos desarrolló un glioblastoma multiforme), neurofibromas radiculares múltiples en uno, retardo mental en uno, trastornos del aprendizaje en 13 niños, de los 29 en edad escolar, convulsiones afebriles en tres, pubertad precoz en dos y escoliosis en nueve. Se han encontrado zonas cerebrales de hiperseñal en el 71 por ciento de los casos (20 de 28) en los que se ha realizado una resonancia magnética (RM), incluidos siete de los ocho afectos de GO. Discusión. Nuestra casuística, como todas, ejemplifica la heterogeneidad clínica y la impredecible evolución de los niños con NF1 o sospecha de padecerla. Nosotros seguimos la actitud más extendida de control clínico y oftalmológico, y realizamos exámenes complementarios en función de la clínica. En caso de realizar neuroimagen, ésta debe ser RM (AU)

Introduction. Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with a high index of spontaneous mutations and extremely varied and unpredictable clinical manifestations. It is diagnosed by the existence of certain clinical criteria which cannot appear until adulthood. Patients and methods. The clinical histories of the confirmed or possible cases of neurofibromatosis (NF) in the neuropaediatric databases at the Hospital Miguel Servet in Zaragoza and at the Hospital General in Guadalajara were analysed retrospectively. Results. Cases were distributed in 46 NF1, six compatible with NF1, 11 with just marks, five with marks and a family history of marks, and two cases of segmentary NF. Among the confirmed cases of NF1, the following alterations were found: optic glioma (OG) in eight, and one of them developed a glioblastoma multiforme, multiple radicular neurofibromas in one, mental retardation in one and learning disorders in 13 of the 29 school-aged children, afebrile seizures in three, precocious puberty in two and scoliosis in nine. Brain areas with hypersignals were found in 71% of the cases submitted to magnetic resonance imaging (MRI) (20 out of 28), including seven of the eight patients suffering from OG. Discussion. Our case mix, like all the others, exemplifies the clinical heterogeneity and unpredictable progression of children with NF1 or who are suspected of suffering from it. We followed the most widely used method of clinical and ophthalmological control, and complementary examinations were performed according to the clinical features. If neuroimaging is used, it must be MRI (AU)

Sordera y ataxia como inicio de meningitis meningocócica / Deafness and ataxia as the beginning of meningococcal meningitis

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