Design and Interrater Reliability of the Pediatric Version of the Race Scale: PedRACE.

BACKGROUND: Acute ischemic stroke is a leading cause of pediatric death and disability. A clinical scale adapted for children can ensure early detection of candidates for urgent acute ischemic stroke treatment. The Rapid Arterial Occlusion Evaluation (RACE) scale for adults, which scores 5 items (facial palsy 0-2; arm motor function 0-2; leg motor function 0-2; head/gaze deviation 0-1; and aphasia or agnosia 0-2), has good sensitivity and specificity in detecting large vessel occlusion. METHODS: We adapted the previously validated RACE scale for use in children as the Pediatric RACE scale. This adapted scale was tested by prehospital/emergency room staff attending to patients covered by the Catalan Pediatric Stroke Code and child neurologists for its correlation with the Pediatric National Institutes of Health Stroke Scale and for interrater reliability. RESULTS: The study included 50 children, 18 with confirmed strokes (7 acute ischemic strokes and 11 hemorrhagic strokes). Prehospital/emergency staff and child neurologists agreed fully regarding 82% of patients and 100% regarding head/gaze deviation and agnosia. The Pediatric RACE scale correlated strongly with the Pediatric National Institutes of Health Stroke Scale in evaluations by child neurologists (Spearman ρ, 0.852; P<0.001) and prehospital/emergency staff (Spearman ρ, 0.781; P<0.001). The median Pediatric RACE score was significantly higher in patients with large vessel occlusion (6.5; interquartile range, 6-7) than with other etiologies. CONCLUSIONS: Pediatric RACE, showing good interrater reliability and correlation with the Pediatric National Institutes of Health Stroke Scale, is a simple scale to detect candidates for pediatric acute stroke treatment, designed for both prehospital and in-hospital use by non-neurologist medical staff.

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.

Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare multisystem disorders arising from pathogenic variants in glycosylphosphatidylinositol anchor pathway (GPI-AP) genes. Despite associating 24 of at least 31 GPI-AP genes with human neurogenetic disease, prior reports are limited to single genes without consideration of the GPI-AP as a whole and with limited natural history data. In this multinational retrospective observational study, we systematically analyse the molecular spectrum, phenotypic characteristics and natural history of 83 individuals from 75 unique families with IGDs, including 70 newly reported individuals; the largest single cohort to date. Core clinical features were developmental delay or intellectual disability (DD/ID, 90%), seizures (83%), hypotonia (72%) and motor symptoms (64%). Prognostic and biologically significant neuroimaging features included cerebral atrophy (75%), cerebellar atrophy (60%), callosal anomalies (57%) and symmetric restricted diffusion of the central tegmental tracts (60%). Sixty-one individuals had multisystem involvement including gastrointestinal (66%), cardiac (19%) and renal (14%) anomalies. Though dysmorphic features were appreciated in 82%, no single dysmorphic feature had a prevalence >30%, indicating substantial phenotypic heterogeneity. Follow-up data were available for all individuals, 15 of whom were deceased at the time of writing. Median age at seizure onset was 6 months. Individuals with variants in synthesis stage genes of the GPI-AP exhibited a significantly shorter time to seizure onset than individuals with variants in transamidase and remodelling stage genes of the GPI-AP (P = 0.046). Forty individuals had intractable epilepsy. The majority of individuals experienced delayed or absent speech (95%), motor delay with non-ambulance (64%), and severe-to-profound DD/ID (59%). Individuals with a developmental epileptic encephalopathy (51%) were at greater risk of intractable epilepsy (P = 0.003), non-ambulance (P = 0.035), ongoing enteral feeds (P < 0.001) and cortical visual impairment (P = 0.007). Serial neuroimaging showed progressive cerebral volume loss in 87.5% and progressive cerebellar atrophy in 70.8%, indicating a neurodegenerative process. Genetic analyses identified 93 unique variants (106 total), including 22 novel variants. Exploratory analyses of genotype-phenotype correlations using unsupervised hierarchical clustering identified novel genotypic predictors of clinical phenotype and long-term outcome with meaningful implications for management. In summary, we expand both the mild and severe phenotypic extremities of the IGDs, provide insights into their neurological basis, and vitally, enable meaningful genetic counselling for affected individuals and their families.

Diagnòstic i maneig de la paràlisi facial de Bell / Diagnosis and management of facial Bell's palsy

Fonament. La paràlisi facial perifèrica idiopàtica, o paràliside Bell, és la paràlisi facial més freqüent en la poblaciópediàtrica. La clínica pot incloure manifestacions motores,sensitives, autonòmiques i emocionals. Representa undiagnòstic d’exclusió, i és necessari descartar la presènciade signes o símptomes d’alarma que suggereixin una etiologia diferent. El tractament es basa en mesures de protecció i hidratació ocular, i l’ús de corticoesteroides en l’edatpediàtrica és controvertit.Objectiu. Descriure la clínica, el diagnòstic diferencial i eltractament de la paràlisi de Bell, analitzant l’evidència disponible actualment sobre l’ús de corticoesteroides.Mètode. Es fa una revisió bibliogràfica.Resultats. Els cinc treballs analitzats, incloent-hi dues revisions sistemàtiques, suggereixen la manca de benefici delscorticoesteroides, ja que no observen que tinguin impacteen la recuperació experimentada pels pacients pediàtrics.Destaca, però, l’absència d’estudis prospectius aleatoritzats, de manera que l’evidència prové de treballs amb graud’evidència baix.Conclusions. La paràlisi de Bell en infants presenta taxes derecuperació espontània molt elevades (85-97%), tot i queles seqüeles també són possibles. Actualment, el tractament es basa en mesures generals. És dubtosa la necessitat d’ús de corticoesteroides, a l’espera de la publicació denous treballs els pròxims anys. (AU)

Fundamento. La parálisis facial periférica idiopática, o parálisis deBell, es la parálisis facial más frecuente en la población pediátrica. La clínica puede incluir manifestaciones motoras, sensitivas,autonómicas y emocionales. Representa un diagnóstico de exclusión, y es necesario descartar la presencia de signos o síntomas dealarma que sugieran una etiología diferente. El tratamiento se basaen medidas de protección e hidratación ocular, y el uso de loscorticosteroides en la edad pediátrica es controvertido.Objetivo. Describir la clínica, el diagnóstico diferencial y el tratamiento de la parálisis de Bell, analizando la evidencia disponibleactualmente sobre el uso de corticosteroides. Método. Se realiza una revisión bibliográfica.Resultados. Los cinco trabajos analizados, incluyendo dos revisiones sistemáticas, sugieren la falta de beneficio de los corticosteroides, pues no observan impacto de estos en la recuperaciónexperimentada por los pacientes pediátricos. Destaca, no obstante, la ausencia de estudios prospectivos aleatorizados, por loque la evidencia proviene de trabajos con un grado de evidenciabajo.Conclusiones. La parálisis de Bell en niños presenta tasas de recuperación espontánea muy elevadas (85-97%), aunque las secuelastambién son posibles. Actualmente, el tratamiento se basa enmedidas generales. Es dudosa la necesidad de uso de corticosteroides, a la espera de la publicación de nuevos trabajos en lospróximos años. (AU)

Background. Idiopathic peripheral facial palsy, or Bell’s palsy, isthe most common facial paralysis in the pediatric population. Theclinical presentation can include motor, sensory, autonomic, andemotional manifestations. It represents a diagnosis of exclusionand thus it is always necessary to rule out the presence of alarmsigns or symptoms that would suggest a different etiology.Treatment is based on eye protection and hydration measures,while the application of corticosteroids in children is controversial.Objective. To describe the clinical characteristics, differential diagnosis, and treatment of Bell’s palsy, including a review of the available evidence on the use of corticosteroids.Method. Literature review.Results. The five studies analysed, including two systematic reviews, suggest the lack of benefit of corticosteroids, since an impact on recovery experienced by pediatric patients has not beendocumented. However, the absence of prospective randomizedstudies limits the validity of the findings, since the only data available originates from studies with a low level of evidence.Conclusions. Bell’s palsy in children presents high recovery rates(85-97%), although sequelae are possible. Current treatment isbased in general supportive measures. The need of corticoids isstill a controversial issue and further research is needed. (AU)

Error innat del metabolisme diagnosticat després d'encefalopatia hiperamonièmica induïda per valproat / Error innato del metabolismo diagnosticado tras encefalopatía hiperamoniémica inducida por valproato / Inborn error of metabolism diagnosed after valproate -induced hyperammonemic encephalopathy

Introducció: L’àcid valproic és un fàrmac antiepilèptic utilitzat àmpliament, tant per tractar l’epilèpsia com en patologia psiquiàtrica o migranya. Tot i que els seus efectessecundaris més freqüents són lleus i coneguts, determinatspacients poden presentar reaccions idiosincràtiques menysconegudes i potencialment greus. Cas clínic: Pacient de 10 anys amb antecedent d’epilèpsia,en el moment actual sense tractament. En el context denova crisi i administració d’àcid valproic, presenta un quadre d’instauració gradual caracteritzat per somnolència,vòmits i alteració conductual amb agressivitat verbal i física. Davant la sospita de reacció adversa farmacològica,se sol·liciten nivells plasmàtics de valproat (normals), nivells d’amoni (elevats) i funció hepàtica i renal (normals). L’electroencefalograma evidencia un alentiment generalitzat compatible amb encefalopatia. L’estudi metabòlic ensang i orina identifica alteracions compatibles amb un trastorn de la β-oxidació dels àcids grassos de cadena mitjana. L’estat clínic del pacient millora al cap de 48 hores del’ingrés amb la retirada del fàrmac, dieta absoluta ambseroterapia i administració de carnitina i àcid carglúmic. Comentaris: Per la seva simptomatologia inespecífica,l’encefalopatia per àcid valproic es pot confondre amb altres patologies, per la qual cosa és important tenir un elevat índex de sospita i fer estudis bioquímics complerts,tant per confirmar el diagnòstic com per excloure altresmalalties de base.(AU)

Introducción: El ácido valproico es un antiepiléptico muy empleadopara el tratamiento de distintas formas de epilepsia, además depara patología psiquiátrica o migraña. Aunque sus efectos adversos son en su mayoría leves y bien conocidos, algunos pacientespueden presentar reacciones idiosincráticas menos conocidas ypotencialmente graves. Caso clínico: Paciente de 10 años, con antecedentes de epilepsia,actualmente sin tratamiento. Tras una nueva crisis y en tratamiento con ácido valproico, presenta un cuadro de instauración radual con somnolencia, vómitos y alteración conductual conagresividad verbal y física. Ante la sospecha de una reacción farmacológica adversa, se solicitan niveles plasmáticos de valproato(normales), niveles de amonio (elevados) y función hepatorrenal(normal). El electroencefalograma evidencia un enlentecimientogeneralizado compatible con encefalopatía. El estudio metabólicoen sangre y orina identifica alteraciones compatibles con un defecto en la β-oxidación de los ácidos grasos de cadena media. Elestado clínico del paciente mejoró a las 48 horas del ingreso conla retirada del fármaco, dieta absoluta y sueroterapia, administración de carnitina endovenosa y ácido carglúmico.Comentarios: Por su sintomatología inespecífica, la encefalopatíapor ácido valproico puede confundirse con otras entidades, por loque es importante tener un alto índice de sospecha y realizar estudios bioquímicos completos tanto para la confirmación del diagnóstico como para excluir otras enfermedades de base.(AU)

Introduction: Valproic acid is an antiepileptic drug that is commonly used not only to treat epilepsy, but also for several psychiatric conditions and migraine. Most of its side effects are mild andwell known. However, some patients may present less knownidiosyncratic, potentially life-threatening side effects. Case report: A 10-year-old boy with history of epilepsy, currently offtreatment, presented with a new seizure. After treatment with valproic acid was initiated, the patient progressively developed altered consciousness with drowsiness, vomiting and physical andverbal aggressiveness. Valproate plasma levels and liver and renalfunction were withing normal limits, but ammonia levels were elevated. An electroencephalogram showed diffuse slow wave activity,suggestive of encephalopathy. Metabolic studies, in blood andurine, identified alterations on β-oxidation of medium chain fattyacid pathways. The patient’s clinical condition improved within 48hours after discontinuation of valproic acid, fasting, and administration of intravenous fluids, carglumic acid and carnitine. Comments: Because of its unspecific symptoms, hyperammonemicencephalopathy induced by valproate can be confused with otherillnesses. For this reason, it is important to have a high level ofsuspicion and perform a comprehensive laboratory evaluation toconfirm the diagnosis and rule out other conditions.(AU)

Codi ictus pediàtric a Catalunya / No disponible

No disponible

Enterovirus y complicaciones neurológicas / Enterovirus and neurological complications

No disponible

Brote de enfermedad neurológica aguda asociada a enterovirus en Cataluña: aspectos neuropediátricos / Outbreak of acute neurological disease associated to enterovirus in Catalonia: neuropaediatric aspects

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