Decompressive craniectomy in the acute fulminant cerebral edema.

Acute fulminant cerebral edema is a type of rapidly progressive encephalitis that occurs in children and is associated with significant morbidity and mortality. We present a clinical case with seizures, rapid neurological deterioration and the early appearance of cerebral herniation signs. Although the radiological tests were initially normal and there are no established parameters that predict the evolution of encephalitis to a rapidly progressive subtype, the clinical evolution forced to consider the decompressive craniectomy due to the lack of response to the medical management of the cerebral edema. It may be necessary take a brain biopsy to confirm the etiology of the encephalitis origin of acute fulminant cerebral edema. The objective of surgery should be not only to increase survival, but also to reduce subsequent neurological sequelae.

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.

BACKGROUND: KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been reported. Both loss-of-function sequence variants and large deletions (copy number variations, CNVs) involving ANKRD11 cause KBG syndrome, but no genotype-phenotype correlation has been reported. METHODS: 67 patients with KBG syndrome were assessed using a custom phenotypical questionnaire. Manifestations present in >50% of the patients and a 'phenotypical score' were used to perform a genotype-phenotype correlation in 340 patients from our cohort and the literature. RESULTS: Neurodevelopmental delay, macrodontia, triangular face, characteristic ears, nose and eyebrows were the most prevalentf (eatures. 82.8% of the patients had at least one of seven main comorbidities: hearing loss and/or otitis media, visual problems, cryptorchidism, cardiopathy, feeding difficulties and/or seizures. Associations found included a higher phenotypical score in patients with sequence variants compared with CNVs and a higher frequency of triangular face (71.1% vs 42.5% in CNVs). Short stature was more frequent in patients with exon 9 variants (62.5% inside vs 27.8% outside exon 9), and the prevalence of intellectual disability/attention deficit hyperactivity disorder/autism spectrum disorder was lower in patients with the c.1903_1907del variant (70.4% vs 89.4% other variants). Presence of macrodontia and comorbidities were associated with larger deletion sizes and hand anomalies with smaller deletions. CONCLUSION: We present a detailed phenotypical description of KBG syndrome in the largest series reported to date of 67 patients, provide evidence of a genotype-phenotype correlation between some KBG features and specific ANKRD11 variants in 340 patients, and propose updated clinical diagnostic criteria based on our findings.

Síndrome de Wolf-Hirschhorn: Descripción de cinco casos caracterizados por microarrays de polimorfismos de nucleótido único / Wolf-Hirschhorn syndrome: Description of five cases characterized by means of single nucleotide polymorphism microarrays

El síndrome de Wolf-Hirschhorn es una entidad polimalformativa debida a la microdeleción en la región distal del brazo corto del cromosoma 4 (4p16.3), el cual produce una serie de manifestaciones clínicas, que pueden variar dependiendo del tipo y tamaño del defecto genético en este síndrome de genes contiguos. Se presentan cinco pacientes, tres de ellos de sexo femenino, todos con los hallazgos clínicos primordiales, con rasgo facial característico de "apariencia en casco de guerrero griego", retraso en el crecimiento y del desarrollo psicomotor. Además de la deleción parcial en la región distal del brazo corto del cromosoma 4, en dos pacientes, se encontraron alteraciones genéticas adicionales, mediante el uso de microarrays de polimorfismos de nucleótido único. Se resaltan las características clínicas del síndrome de Wolf-Hirschhorn con la finalidad de orientar el diagnóstico, brindar una atención médica interdisciplinaria y, a través de su confirmación, brindar un adecuado asesoramiento genético familiar.

Wolf-Hirschhorn syndrome is a polymalformative entity due to the microdeletion in the distal region of the short arm of chromosome 4 (4p16.3), which produces a series of clinical manifestations that can vary depending on the type and size of the genetic defect in this contiguous gene syndrome. Five patients are presented, three of them female, all with the primary clinical findings, characterized by "Greek warrior helmet appearance" facial feature, growth retardation and psychomotor development delay. In addition to the partial deletion in the distal region of the short arm of chromosome 4, two additional genetic alterations were found in two patients, through the use of single nucleotide polymorphism arrays. The clinical characteristics of Wolf-Hirschhorn syndrome are highlighted in order to guide the diagnosis, provide interdisciplinary medical care and, through its confirmation, provide adequate family genetic counseling.

Prevalencia de los trastornos del espectro autista en niños en Estados Unidos, Europa y España: coincidencias y discrepancias / Prevalence of autism spectrum disorders in USA, Europe and Spain: coincidences and discrepancies

Los trastornos del espectro autista (TEA) engloban a un grupo heterogéneo de trastornos del neurodesarrollo que tienen en común la presencia de problemas para la interacción/comunicación social y la tendencia a mostrar intereses restringidos o conductas repetitivas. Diversos estudios epidemiológicos realizados en diferentes países en los últimos años han mostrado de forma consistente dos características: el incremento progresivo en la prevalencia de los TEA a nivel mundial y la existencia de una gran variabilidad geográfica entre territorios y dentro de un mismo territorio. En el presente artículo analizamos los datos de prevalencia más recientemente publicados en EE.UU. y en diversos países de Europa (incluyendo España), que muestran tasas de prevalencia muy variables, con un rango que abarca desde 1/59 niños con trastornos del espectro autista en EE. UU., hasta 1/806 en Portugal. En un segundo tiempo describimos brevemente algunas de las principales hipótesis que intentan explicar esta variabilidad.

Autism spectrum disorders are a heterogeneous group of disorders that share the presence of two core symptoms: problems in social interaction / communication and the tendency to present restricted interests and repetitive behavior. Over the last years, several epidemiologic studies have been published by different authors in diverse countries, having all of them shown two common characteristics: a global increase in the prevalence rates of autism spectrum disorders, and the existence of a great geographical variability no only between geographical areas, but also within the same geographical areas. At the present manuscript, we analyze some of the most recent prevalence data published in USA and some European countries (including Spain). All of them show different prevalence rates, ranging from 1/59 children with autism spectrum disorders in the USA to 1/806 in Portugal. In a second part, we briefly describe some of the current scientific hypotheses that try to explain this variability.

[Incidence and characteristics of tumours of the central nervous system among the paediatric population of Asturias. New data about an incidence on the rise]. / Incidencia y características de tumores del sistema nervioso central en la población pediátrica asturiana. Nuevos datos sobre una incidencia en aumento.

INTRODUCTION: Tumours of the central nervous system (CNS) are one of the most common causes of child mortality, second only to accidents. In the last few decades we have witnessed an increase in the incidence of these tumours, which now stands at 2.5-3.2 cases/100,000 children/year in the population under 15 years of age. AIMS: To determine the real incidence of tumours affecting the CNS in Asturias and to describe their characteristics. PATIENTS AND METHODS: Data were collected on patients under 15 years of age who had been diagnosed with a CNS tumour in any of the hospitals in the Community during the ten-year period 1999-2008. RESULTS: The mean annual incidence of CNS tumours was 4.4 cases/100,000 children/year (range: 3.1-5.7). The mean time elapsed before a diagnosis was reached was 2.03 months. The clinical features at onset were focal neurological deficit in 58% of cases, followed by cerebellar symptoms (42%), headache (32%) and behavioural disorders (32%). CONCLUSIONS: The incidence of tumours affecting the CNS found in children in Asturias is the highest of those recorded for this age bracket, the clinical features of these patients being similar to those in other studies. We seem to be before new data that confirms the claims of a growing incidence of these tumours.

Lesión medular lumbar sin anomalías visibles en imágenes radiológicas: localización excepcional en un niño / Lumbar spinal cord injury without radiological abnormality in a child: an exceptional form of presentation

La lesión espinal medular sin anomalías radiológicas (SCIWORA, por su sigla en inglés) constituye una entidad poco frecuente que afecta principalmente a niños y se define por la existencia de una lesión medular aguda, pese a la normalidad de la imagen radiológica convencional o por transmisión (TC).El SCIWORA de localización lumbar constituye una rareza en la población infantil y, según nuestro conocimiento, sólo existe un caso con esta localización descrito previamente en la bibliografía. Presentamos el caso de un niño de 5 años que sufrió una parálisis aguda bilateral de ambas extremidades inferiores asociada a incontinencia urinaria y fecal después de una caídadesde 1,5 metros. Se evidenció una contusión medular lumbar en la imagen de resonancia magnética, sin otro tipo de lesiones, que confirmó el diagnóstico de SCIWORA. Nuestro caso clínico ilustra la gravedad potencial de esta patología y la necesidad de una adecuada historia clínica para su diagnóstico.

SCIWORA is an uncommon syndrome affecting mainly children and is defined as the occurrence of acute spinal cord injury despite normal plain radiography and normal computed tomography (CT). Lumbar SCIWORA is very rare in children, and to our knowledge, there is only one report of lumbar SCIWORAin the literature. We present the case of a 5 year-old boy who suffered acute bilateral lower limbs paralysis, associatedto urinary and bowel incontinence following a 1.5 meter fall. Lumbar cord contusion could be demonstrated on MRIwithout other radiologic abnormalities, which confirmed SCIWORA diagnosis.Our case report illustrates the potential seriousness of this disease and the importance of a thorough and accurate clinical history for diagnosis.

Shapiro Shulman syndrome: a forgotten condition.

We report on a girl with cutaneous angioma and hydrocephalus who presented the characteristics of the condition described by Shapiro and Shulman. At birth, she manifested extensive pink discoloration on her face, scalp, and back. During infancy, she developed hydrocephalus, which later stabilized. Magnetic resonance angiography revealed anomalous intracranial venous drainage, which led to development of her hydrocephalus. Various authors described such a process in the 1970s and 1980s, interpreting it as a variant of Sturge-Weber syndrome, and listing it with other neurocutaneous syndromes associated with vascular nevi, but few references to this condition appear in the recent literature. We think it exists as a syndrome, and that it is not a variant of Sturge-Weber syndrome. The cutaneous anomaly has characteristics closer to those of vascular birthmarks that fade than those of the port wine stain itself, and seems a direct consequence of abnormal venous drainage rather than a primarily capillary malformation.

Adenopatías en pediatría / Adenopathies in pediatrics

RESUMEN. Las adenopatías son un hallazgo muy común enpediatría y uno de los motivos más frecuentes deconsulta. En general son secundarias a procesosbenignos, pero pueden responder a etiologías demayor gravedad; diferenciarlas es el punto de mayorrelevancia clínica, pues una correcta aproximacióndiagnóstica puede evitar retrasar su manejoadecuado y prevenir así los perjuicios para el paciente.Para ello se revisan las causas más frecuentessegún su localización y distribución anatómica, y seaportan diversos algoritmos de actuación para cadacaso, que pueden orientar al clínico para un diagnósticoy tratamiento adecuados.Palabras clave: adenopatías, ganglio linfático, linfadenopatía.