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La ataxia aguda (AA) en la población pediátrica generalmente es secundaria a disfunción cerebelosade origen inmunológico. En urgencias, la rápida detección de patologías de menor frecuencia y mayorgravedad que requieren tratamiento específico es prioridad.Objetivos: Describir la etiología de la AA en los pacientes valorados por Neuropediatría en la FundaciónHospital la Misericordia entre los años 2009 y 2013.Métodos y Materiales: Estudio descriptivo tipo serie de casos. Revisión retrospectiva de historias clínicas depacientes de 1 mes a 18 años con diagnóstico definitivo de AA. Análisis de datos mediante SPSS 21, medidasde tendencia central, Kaplan Meier y prueba de Log Rank.Resultados: Se recopilaron 48 casos, de los cuales el 91,67% fue de origen cerebeloso. El diagnóstico etiológicomás frecuente fue cerebelitis o romboencefalitis viral en 25%, seguido de intoxicación aguda y post infecciosa(20,5% cada una). En cuanto a pronóstico, el 60.4 % tuvo una recuperación completa, siendo esta más rápidaen la ataxia postinfecciosa, tóxica y post traumática.Discusión: La disfunción cerebelosa fue la causa más frecuente de ataxia, los diagnósticos etiológicos principalesfueron ataxia de origen infeccioso y post infeccioso, el antecedente de infección 1 a 30 días antes del iniciode los síntomas neurológicos fue positivo en 41.67 %, lo que sugiere un importante papel de la inmunidad.Conclusiones: La mayoría de las ataxias agudas son secundarias a disfunción cerebelosa infecciosa, inmunológicao tóxica; el pronóstico depende de la etiología y generalmente es benigno...

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Acute cerebellar ataxia of childhood is the most frequent neurological complication of chickenpox virus infection. Acute cerebellar ataxia is categorized within the group of acute postinfectious complications. The aims of this study were: (I) to evaluate the clinical presentation, management, and follow-up of children hospitalized due to acute cerebellar ataxia in a tertiary pediatric hospital, where immunization for chickenpox is not available, and (II) to describe the differential diagnosis of acute postinfectious cerebellitis. We evaluated 95 patients with acute cerebellar ataxia. The diagnostic criteria for acute ataxia were: Acute-onset loss of coordination or gait difficulties, with or without nystagmus, lasting less than 48 hours in a previously healthy child. All children met the inclusion criteria, except those with drug-induced ataxia in whom duration should be less than 24 hours for inclusion in the study. The data were recorded in a clinical pediatrics and neurological chart. Among immunosuppressed patients acute cerebellar ataxia was most frequently due to chickenpox. Most of the patients were male. Age at presentation ranged from preschool to 5 years of age. Time lapse between presentation of the rash and hospital admission ranged from 1 to 3 days. CSF study was performed in 59.5% of the cases. Brain magnetic resonance imaging and computed tomography scan showed edema in 33.3%. Intravenous acyclovir was used in 23 patients, however, no significant differences were found in clinical manifestations and follow-up between treated and untreated patients. Ataxia was the first clinical manifestation. Mean hospital stay ranged from 2 to 11 days with a mean of 4 days.

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This study aimed to present the neuropsychological assessment of MC, a seven-year-old girl, who was diagnosed with acute viral cerebellitis. The protocol included cognitive tests, stress and mood scales, behavioral observation, and interviews with family and school. In the neuropsychological assessment, difficulties in crystallized skills, especially in language and numerical cognition domains, were observed. The results of the neuropsychological assessment were discussed to detail her neurocognitive profile and verify to what extent her impairment could be attributed to the acute viral cerebellitis.

O estudo teve como objetivo apresentar a avaliação neuropsicológica de MC, menina de sete anos, diagnosticada com cerebelite viral aguda. Foram utilizados testes cognitivos, escalas de humor e estresse, observação comportamental, além de entrevista familiar e escolar. Na avaliação neuropsicológica, foram observadas dificuldades nas habilidades cristalizadas, em especial nos domínios da linguagem e cognição numérica. Os resultados da avaliação neuropsicológica foram discutidos visando detalhar o seu perfil neurocognitivo e verificar em que medida seus prejuízos poderiam ser atribuídos à cerebelite viral aguda.

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A cerebelite aguda é uma síndrome inflamatória rara frequentemente caracterizada por rápida disfunção cerebelar. Neste estudo relatamos os achados de imagem do caso de uma criança com cerebelite aguda, herniação tonsilar e hidrocefalia hipertensiva. O agente etiológico não foi descoberto. O tratamento foi conservador, com manitol e corticoide. A análise evolutiva por imagem demonstrou resolução do quadro clínico sem sequelas.

Acute cerebellitis is a rare inflammatory syndrome frequently characterized by fast onset of cerebellar dysfunction. The present case report describes imaging findings in a child with acute cerebellitis, tonsillar herniation and hypertensive hydrocephalus. The etiologic agent has not been determined. A conservative management was adopted, with corticoid and diuretic drugs. Imaging follow-up demonstrated resolution of the clinical condition with no sequela.

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Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, Elejalde), RAB27A (GS2) or MLPH (GS3) genes. Typical features of all three subtypes of this disease include pigmentary dilution of the hair and skin and silvery-gray hair. Whereas the GS3 phenotype is restricted to the pigmentation dysfunction, GS1 patients also show primary neurological impairment and GS2 patients have severe immunological deficiencies that lead to recurrent infections and hemophagocytic syndrome. We report here the diagnosis of GS2 in 3-year-old twin siblings, with silvery-gray hair, immunodeficiency, hepatosplenomegaly and secondary severe neurological symptoms that culminated in multiple organ failure and death. Light microscopy examination of the hair showed large, irregular clumps of pigments characteristic of GS. A homozygous nonsense mutation, C-T transition (c.550C>T), in the coding region of the RAB27A gene, which leads to a premature stop codon and prediction of a truncated protein (R184X), was found. In patient mononuclear cells, RAB27A mRNA levels were the same as in cells from the parents, but no protein was detected. In addition to the case report, we also present an updated summary on the exon/intron organization of the human RAB27A gene, a literature review of GS2 cases, and a complete list of the human mutations currently reported in this gene. Finally, we propose a flow chart to guide the early diagnosis of the GS subtypes and Chédiak-Higashi syndrome.

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