Norovirus Associated Cerebellitis in a Previous Healthy 2-year-old Girl / 대한소아신경학회지

Norovirus causes acute gastroenteritis, occasional afebrile seizures, and rarely encephalitis. We describe a child with cerebellitis due to norovirus that has not been reported previously. A previously healthy 2-year-old girl with a recent history of acute gastroenteritis, who presented with acute cerebellar ataxia. She exhibited marked truncal ataxia, was barely able to walk, and was prone to sitting or lying down. Multiplex PCR using stool samples revealed norovirus (genogroup II) and magnetic resonance imaging showed increased T2 signal in the hemi-cerebellum. Norovirus may be a potential pathogenic cause of acute cerebellitis in children.

Vestibular Dysfunction in Acute Cerebellar Ataxia / 대한평형의학회지

Acute cerebellar ataxia is described as a clinical syndrome of acute onset of cerebellar dysfunction with a good long-term prognosis. The pathogenesis of acute cerebellar ataxia remains unclear. A 55-year-old woman presented with acute onset of gait ataxia and dysarthria. The videonystagmography showed saccadic pursuit and saccadic abnormalities including slightly prolonged latency and hypometria. Rotational chair test revealed increased vestibuloocular reflex (VOR) gains and a failure of VOR suppression by visual fixation. Brain magnetic resonance imaging and cerebrospinal fluid examination were normal. The patient was treated with steroids and made nearly complete recovery over a period of 3 months.

Ataxia aguda en la población pediátrica de la Fundación Hospital de laMisericordia 2009-2013 / Acute Ataxia in the Pediatric Population of the Fundacion Hospital de la Misericordia 2009-2013

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...

Does the acute cerebellitis play a role in the neurocognitive profile of a child after its onset? / A cerebelite aguda desempenha um papel no perfil neurocognitivo de uma criança após o seu inicio?

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.

Cerebelite aguda com herniação tonsilar: relato de caso / Acute cerebellitis with tonsillar herniation: a case report

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.

Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure

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.

A Case of Ramsay Hunt Syndrome Complicated by Cerebellitis

Cerebellitis associated with herpes zoster has rarely been observed. We report here a 76-year-old man who had a history of anterior resection for sigmoid colon cancer and presented during chemotherapy with vesicular rash of the left ear, neuralgic pain in the postauricular area, and ataxic gait. After a while, he developed left peripheral facial palsy, fever, aggravated gait ataxia, and prolonged nausea and vomiting. The left facial nerve was enhanced on gadolinium-enhanced brain magnetic resonance imaging. We suspected that the patient had Ramsay Hunt syndrome accompanied by cerebellitis, which has not been reported previously. Over the course of several months, during which he was treated with acyclovir and corticosteroid, his symptoms improved significantly.

A Case of Acute Cerebellitis / 대한소아신경학회지

Acute cerebellitis, also known as acute cerebellar ataxia, is an inflammatory syndrome of cerebellar dysfunction that may reflect an infectious, post-infectious, or post-vaccination disorder. The clinical presentations are abnormal eye movement, truncal ataxia, dysarthria, nausea, headache, tremor, convulsion and altered mental status. Many patients with cerebellitis are supposed to have normal MRI findings. But hyperintense signals of cerebellar gray matter in T2-weighted sequences of MRI can be used as a strong indication of acute cerebellitis. We report here a case of acute cerebellitis with abnormal MRI findings in 7 years old patient with diplopia and tremor.

Tc-99m HMPAO Brain Perfusion SPECT Findings in Acute Cerebellitis

Acute cerebellitis is an uncommon neurological complication that may occur following childhood viral infections, and is rarely reported in adults. Imaging studies show no abnormalities in the majority of cases. We experienced three cases of acute cerebellitis, which showed no abnormal findings on MRI, but revealed diffusely increased cerebellar per-fusions on brain perfusion SPECT, which normalized 5~6 months later. Therefore, brain perfusion SPECT is consid-ered to be useful in identifying acute cerebellitis and in monitoring its clinical course.

Two Cases of Acute Cerebellitis

Acute cerebellitis occurrs in the absence of cerebral hemispheric involvement and is exceptionally rare. It is charac-terized by an acute onset of cerebellar dysfunction following a respiratory, gastrointesitnal infection or skin rash. However, almost all patients show good prognosis. We experienced two cases of acute cerebellitis in young adults. One patient was admitted due to gait ataxia and dysarthria. The immunological laboratory findings revealed an acute Ebstein Barr virus infection and an electronystagmogram showed a periodic alternating nystagmus. The other patient was admitted due to severe gait ataxia, with no identification of any organism. CSF examinations revealed elevated protein and brain magnetic resonance images showed cerebellar foliae enhancement bilaterally. Both patients recovered without any disabilities.