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Aumento de tamaño del espacio subaracnoideo de predominio frontal y temporal bihemisférico, con apertura del espacio interhemisférico, y tamaño ventricular aumentado (sin tensión), compatible con atrofia cortical y subcortical.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Esther Eugenia Moreno Medinilla, Macarena Villagrán García, María Dolores Mora Ramírez, Rocío Calvo Medina, Jacinto Luis Martínez Antón" "autores" => array:5 [ 0 => array:2 [ "nombre" => "Esther Eugenia" "apellidos" => "Moreno Medinilla" ] 1 => array:2 [ "nombre" => "Macarena" "apellidos" => "Villagrán García" ] 2 => array:2 [ "nombre" => "María Dolores" "apellidos" => "Mora Ramírez" ] 3 => array:2 [ "nombre" => "Rocío" "apellidos" => "Calvo Medina" ] 4 => array:2 [ "nombre" => "Jacinto Luis" "apellidos" => "Martínez Antón" ] ] ] ] ] "idiomaDefecto" => "es" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S2341287919300535" "doi" => "10.1016/j.anpede.2018.04.011" "estado" => "S300" 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Enlarged subarachnoid space with frontotemporal predominance in both hemispheres, with widening of the interhemispheric fissure and increased ventricular size (in the absence of increased pressure), compatible with cortical and subcortical atrophy.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Aicardi-Goutières syndrome (AGS) is a rare hereditary disease whose exact prevalence is unknown. It was first described in 1984 by Jean Aicardi and Francoise Goutières as a progressive encephalopathy with onset in the first months of life characterised by cerebrospinal fluid (CSF) lymphocytosis and calcifications in the basal ganglia.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">1</span></a> It manifests with irritability, psychomotor retardation, spasticity, dystonia, epileptic seizures, recurrent episodes of aseptic fever and microcephaly. The mortality is higher during the encephalopathic phase, and although the disease typically stabilises afterwards, it causes severe neurologic sequelae. Other characteristic features that may appear during its course are chilblains, ocular symptoms (mainly glaucoma), cardiac involvement or autoimmune disorders.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a> Type I interferons play a crucial role in the pathogenesis of AGS, in which their expression is upregulated leading to increased production.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a> For this reason, one of the classic laboratory findings in these patients is an elevated level of interferon alfa in CSF, along with pleocytosis and equally elevated levels of neopterin and biopterin. The potential usefulness of assessing the level of expression of interferon-stimulated genes by interferon in peripheral blood as a marker is currently being investigated, as there is evidence that these levels stay high past the encephalopathic phase (“interferon signature”).<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">3–5</span></a> Another key feature is the detection of neuroimaging abnormalities including calcifications in the basal ganglia and changes in the white matter (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). To date, we know of 7 genes whose mutations can lead to upregulation of the interferon pathway: <span class="elsevierStyleItalic">ADAR</span>, <span class="elsevierStyleItalic">RNASEH2A</span>, <span class="elsevierStyleItalic">RNASEH2B</span>, <span class="elsevierStyleItalic">RNASEH2C</span>, <span class="elsevierStyleItalic">SAMHD1</span>, <span class="elsevierStyleItalic">TREX1</span> and <span class="elsevierStyleItalic">IFIH1</span>. Heterozygous mutations have been described for the <span class="elsevierStyleItalic">TREX1</span>, <span class="elsevierStyleItalic">ADAR</span> and <span class="elsevierStyleItalic">IFIH1</span> genes, whereas the mutations reported in all other genes have been homozygous.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a> Mutations in the <span class="elsevierStyleItalic">IFIH1</span> gene were detected most recently (2014)<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a> and are therefore the least frequent pathogenic variants, whereas mutations in the <span class="elsevierStyleItalic">RNASEH2B</span> and <span class="elsevierStyleItalic">TREX1</span> genes account for the highest proportion of diagnosed cases of AGS.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">In the past few decades, thanks to advances in genetics allowing the detection of these specific mutations, evidence has emerged of a broad phenotypic spectrum beyond the classic presentation based on the causative gene. We present the cases of 3 patients given a diagnosis of AGS in the past 8 years with the aim of analysing their clinical features in relation to the underlying genetic defect (<a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>). In general, the presenting features of AGS were consistent with those described in the most recent case series in the literature: neonatal presentation (33%), microcephaly (66%), psychomotor retardation (100%), spasticity (100%), severe intellectual disability (66%) and calcifications on cranial CT (66%), although only one patient had epileptic seizures.</p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">As noted before, homozygous mutations in the <span class="elsevierStyleItalic">RNASEH2B</span> gene are the most frequent variants that cause AGS and their phenotypic expression usually conforms the most to the classic presentation.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a> This was the case of the patient in our study that carried such a mutation, who had onset at age 10 months with irritability and psychomotor retardation and with characteristic neuroimaging and CSF findings.</p><p id="par0020" class="elsevierStylePara elsevierViewall">Twenty percent of cases of AGS may have a neonatal presentation, with the onset of disease occurring in utero.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a> Mutations in any of the 7 aforementioned genes may lead to this phenotype, but this early presentation is most frequently associated with the <span class="elsevierStyleItalic">TREX</span> gene.<a class="elsevierStyleCrossRefs" href="#bib0050"><span class="elsevierStyleSup">4,5</span></a> The initial presentation of this form is similar to that of a TORCH infection, with hepatosplenomegaly, hypertransaminasaemia, thrombocytopenia and neurologic manifestations including extreme irritability, movement disorders and epileptic seizures.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a> These patients have a more severe course of disease and are at higher risk of death. The patient in our sample that presented with such a variant had a neonatal presentation and currently has the most severe form of illness of the 3.</p><p id="par0025" class="elsevierStylePara elsevierViewall">Mutations in the <span class="elsevierStyleItalic">ADAR1</span> gene and especially the <span class="elsevierStyleItalic">IFIH1</span> gene are associated with a late onset of symptoms, after 1 year of life with normal psychomotor development.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a> In some of these cases, the syndrome has a benign course with relative preservation of language and motor skills. Our patient with a mutation in the <span class="elsevierStyleItalic">IFIH1</span> gene was a singular case in that he also had Singleton-Merten syndrome, a rare disease also caused by a mutation in the <span class="elsevierStyleItalic">IFIH1</span> gene and characterised by dental dysplasia, aortic calcifications and osteoporosis.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">6</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">Our aim is to underscore the significant phenotypic variability of AGS and its association with specific mutations for the purpose of both encouraging consideration of this diagnosis in cases with presentations that deviate from the classic form of disease and of contributing additional information on the course of disease and outcomes in these patients.</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Moreno Medinilla EE, Villagrán García M, Mora Ramírez MD, Calvo Medina R, Martínez Antón JL. Síndrome de Aicardi-Goutières: espectro fenotípico y genético en una serie de 3 casos. An Pediatr (Barc). 2019;90:312–314.</p>" ] ] "multimedia" => array:2 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 761 "Ancho" => 1300 "Tamanyo" => 73556 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Diffuse and patchy signal abnormalities in white matter in both cerebral hemisphere, hyperintense in T2-weighted images. Enlarged subarachnoid space with frontotemporal predominance in both hemispheres, with widening of the interhemispheric fissure and increased ventricular size (in the absence of increased pressure), compatible with cortical and subcortical atrophy.</p>" ] ] 1 => array:8 [ "identificador" => "tbl0005" "etiqueta" => "Table 1" "tipo" => "MULTIMEDIATABLA" "mostrarFloat" => true "mostrarDisplay" => false "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at1" "detalle" => "Table " "rol" => "short" ] ] "tabla" => array:2 [ "leyenda" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">CSF, cerebrospinal fluid; CT, computed tomography; GMFCS, Gross Motor Function Classification System; INF, interferon; IUGR, intrauterine growth restriction; MRI, magnetic resonance imaging; PNP, polyneuropathy; WM, white mater.</p>" "tablatextoimagen" => array:1 [ 0 => array:2 [ "tabla" => array:1 [ 0 => """ <table border="0" frame="\n \t\t\t\t\tvoid\n \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="table-head " align="" valign="top" scope="col" style="border-bottom: 2px solid black"> \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Case 1 \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Case 2 \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Case 3 \t\t\t\t\t\t\n \t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleItalic">Genetics</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Homozygous mutation (p.Ala177Thr) in <span class="elsevierStyleItalic">RNASEH2B</span> gene \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Homozygous mutation (341<span class="elsevierStyleHsp" style=""></span>G><span class="elsevierStyleHsp" style=""></span>A) in <span class="elsevierStyleItalic">TREX1</span> gene \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Heterozygous mutation (c.992<span class="elsevierStyleHsp" style=""></span>C><span class="elsevierStyleHsp" style=""></span>G and p.Thr331Arg) in <span class="elsevierStyleItalic">IFIH1</span> gene \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleItalic">Current age</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">3 years \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">7 years and 4 months \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">12 years and 11 months \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleItalic">Sex</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Male \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Female \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Male \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleItalic">Origin</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Romania \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Spain \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Italy \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleItalic">AP</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">– \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Week 36: intrauterine growth restriction<br>Week 37: microcephaly, placental calcification \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Cleft palate \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="table-entry " colspan="4" align="left" valign="top"><span class="elsevierStyleVsp" style="height:0.5px"></span></td></tr><tr title="table-row"><td class="td" title="table-entry " colspan="4" align="left" valign="top"><span class="elsevierStyleItalic">Clinical manifestations</span></td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Age at onset \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">10 months \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Birth \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">2 years \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Initial presentation \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Irritability<br>Psychomotor regression \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Tremors, hypotonia, weak crying, growth failure \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Motor skill delay \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Psychomotor retardation \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Language \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">2-Syllable words \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Microcephaly \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Chilblains \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Epilepsy \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Motor impairment \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Spastic tetraplegia. GMFCS IV \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Severe spastic tetraplegia. GMFCS V \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Spastic tetraplegia. GMFCS IV \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Movement disorder \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Abnormal eye movements \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Visual impairment \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">– \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Myopia \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Glaucoma \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Hearing loss \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">– \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">– \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Cardiac involvement \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Mild tricuspid and mitral regurgitation \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Recurrent fever \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Intellectual disability \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes, grave \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes, mild \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Other \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">– \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">– \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Singleton-Merten syndrome: tooth abnormalities<br>Axonal and demyelinating sensorimotor PNP \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="table-entry " colspan="4" align="left" valign="top"><span class="elsevierStyleVsp" style="height:0.5px"></span></td></tr><tr title="table-row"><td class="td" title="table-entry " colspan="4" align="left" valign="top"><span class="elsevierStyleItalic">CSF</span></td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>CSF analysis \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Increased protein \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Pleocytosis and increased protein \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">– \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Neopterin (nmol/L) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">1.102 (12–55) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">1.813 (12–55) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">– \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Biopterin (nmol/L) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">66 (22–73) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">53 (22–73) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">– \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>INF alfa (IU/mL) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">25 (<2) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">75 (<2) \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">– \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="table-entry " colspan="4" align="left" valign="top"><span class="elsevierStyleVsp" style="height:0.5px"></span></td></tr><tr title="table-row"><td class="td" title="table-entry " colspan="4" align="left" valign="top"><span class="elsevierStyleItalic">Blood</span></td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span><span class="elsevierStyleItalic">Interferon signature</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">– \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">– \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Gene overexpression \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="table-entry " colspan="4" align="left" valign="top"><span class="elsevierStyleVsp" style="height:0.5px"></span></td></tr><tr title="table-row"><td class="td" title="table-entry " colspan="4" align="left" valign="top"><span class="elsevierStyleItalic">Neuroimaging</span></td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Calcifications on CT \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes. In basal and periventricular ganglia \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Yes. Symmetrical calcifications in deep WM of frontal region and lentiform nucleus \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleHsp" style=""></span>Head MRI \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Diffuse and patchy changes in WM intensity of both cerebral hemispheres, hyperintense on T2. Involvement of subcortical WM (sparing the U fibres) and periventricular WM \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Generalised WM involvement with predominance of lobar WM including the subcortical U fibres of the frontal, temporal and occipital lobes, bilaterally and symmetrically, without cortical involvement \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">– \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] "imagenFichero" => array:1 [ 0 => "xTab2022448.png" ] ] ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Characteristics of patients with Aicardi-Goutières syndrome.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0035" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "J. 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Year/Month | Html | Total | |
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2024 November | 11 | 14 | 25 |
2024 October | 69 | 36 | 105 |
2024 September | 99 | 41 | 140 |
2024 August | 90 | 58 | 148 |
2024 July | 102 | 30 | 132 |
2024 June | 122 | 45 | 167 |
2024 May | 99 | 43 | 142 |
2024 April | 84 | 30 | 114 |
2024 March | 91 | 17 | 108 |
2024 February | 114 | 22 | 136 |
2024 January | 121 | 22 | 143 |
2023 December | 154 | 24 | 178 |
2023 November | 169 | 25 | 194 |
2023 October | 136 | 38 | 174 |
2023 September | 93 | 24 | 117 |
2023 August | 74 | 17 | 91 |
2023 July | 97 | 25 | 122 |
2023 June | 100 | 29 | 129 |
2023 May | 118 | 32 | 150 |
2023 April | 76 | 21 | 97 |
2023 March | 112 | 23 | 135 |
2023 February | 114 | 21 | 135 |
2023 January | 74 | 40 | 114 |
2022 December | 121 | 25 | 146 |
2022 November | 125 | 44 | 169 |
2022 October | 136 | 41 | 177 |
2022 September | 159 | 23 | 182 |
2022 August | 86 | 50 | 136 |
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2022 June | 54 | 35 | 89 |
2022 May | 107 | 41 | 148 |
2022 April | 85 | 30 | 115 |
2022 March | 114 | 53 | 167 |
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2021 December | 74 | 45 | 119 |
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2021 April | 204 | 52 | 256 |
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2021 January | 81 | 19 | 100 |
2020 December | 83 | 24 | 107 |
2020 November | 74 | 22 | 96 |
2020 October | 45 | 13 | 58 |
2020 September | 61 | 21 | 82 |
2020 August | 59 | 10 | 69 |
2020 July | 58 | 16 | 74 |
2020 June | 61 | 4 | 65 |
2020 May | 57 | 21 | 78 |
2020 April | 47 | 14 | 61 |
2020 March | 33 | 12 | 45 |
2020 February | 56 | 13 | 69 |
2020 January | 65 | 12 | 77 |
2019 December | 74 | 18 | 92 |
2019 November | 69 | 11 | 80 |
2019 October | 47 | 15 | 62 |
2019 September | 69 | 9 | 78 |
2019 August | 44 | 13 | 57 |
2019 July | 70 | 18 | 88 |
2019 June | 30 | 15 | 45 |
2019 May | 103 | 14 | 117 |
2019 April | 22 | 29 | 51 |