Opsoclonus myoclonus syndrome: how long are we going to go on researching?]

Rev Neurol. 2002 Aug 16-31;35(4):322-5. [Opsoclonus myoclonus syndrome: how long are we going to go on researching?] [Article in Spanish] Ramos S, Temudo T. Interna complementar de Pediatria. Serviço de Pediatria. Hospital Geral de Santo Antonio, Porto, Portugal. [email protected] Abstract INTRODUCTION: Opsoclonus myoclonus is a rare neurological syndrome affecting children and adults, and which is characterised by a sudden onset of chaotic eye movements and myoclonias. In children it generally appears before the age of three as a parainfectious or paraneoplasic process; the type of tumour most frequently associated with this syndrome is the neuroblastoma. CASE REPORT: We report the case of a 22 month old girl who, after a febrile syndrome probably caused by a virus, began to present myoclonias in the upper and lower limbs, opsoclonus, a marked ataxic gait and extreme irritability. After ruling out neoplasia, oral corticotherapy was started and the neurological picture gradually improved. CONCLUSION: By reporting this clinical picture, our intention is to make the particular aspects of this neurological condition known, and highlight the need for neoplasias to be detected in time and for early treatment in order to prevent sequelae, especially when it appears as a paraneoplasic syndrome. PMID: 12235560 [PubMed - indexed for MEDLINE

Status epilepticus in the childhood. A Review of seven years

Rev Neurol. 2000 Mar 1-15;30(5):414-8. [Status epilepticus in the childhood. A review of seven years] [Article in Spanish] Oliveira D, Oliveira MJ, Alves V, Temudo T. Hospital Geral de Santo António, Porto, Portugal. Abstract INTRODUCTION: Status epilepticus is a neurological emergency that requires early and prompt treatment. PATIENTS AND METHODS: This retrospective study includes 32 children treated for status epilepticus at Hospital Geral de Santo António, from January 1992 to December 1998. We evaluated the clinical features, duration, aetiology and prognostic. RESULTS: Symptomatic or criptogenetic aetiology was present in 53% of children and idiopathic in 47%. 27% of episodes of status epilepticus were induced by fever. The most common neurological sequel was epilepsy (onset of new epilepsy in 20%; aggravated in 25%). Two children (10%) had major neurological sequelae after status epilepticus. CONCLUSION: In our study the duration of status epilepticus and sequelae seems to be related with aetiology. PMID: 10775965 [PubMed - indexed for MEDLINE

Tics in children and adolescents: a retrospective analysis of 78 cases

Introducción Los tics son el trastorno del movimiento más frecuente en la edad pediátrica. Es común la existencia de historia familiar de tics y de antecedentes familiares y personales de trastornos neurocomportamentales. Los tics pueden comprometer de modo importante las actividades de la vida diaria del individuo. Objetivo Estudio de las características de los tics de niños y adolescentes de la Consulta de Neuropediatría del Hospital Geral de Santo António. Materiales y métodos Análisis retrospectivo de los casos de tics usando la información recogida de las respectivas historias clínicas. Se utilizaron los criterios del Manual diagnóstico y estadístico de los trastornos mentales en su cuarta revisión de textos (DSM-IV-TR) de 2000, de la Asociación Americana de Psiquiatría. Resultados Fueron analizadas las historias clínicas de 78 individuos, 84,6 % de los cuales eran del sexo masculino. Más de un tercio de los casos pertenecía al grupo etario de los 4 a los 8 años de edad. En el 5,1% los tics se iniciaron antes de los 2 años. Historia familiar de tics, depresión y trazos de enfermedad obsesivo-compulsiva ocurrieron en aproximadamente un 30 % de los casos. La comorbilidad más frecuente fue el trastorno por déficit de atención e hiperactividad (TDAH) (67,9%). Se verificó la posible ocurrencia de trastorno neuropsiquiátrico autoinmune pediátrico (PANDAS) en 5 casos. Los tics motores precedieron a los vocales en todos los casos. En más de dos tercios los tics eran simples. En el 59,0 % de los casos los tics eran crónicos, y el 45,7 % de éstos cumplían criterios de trastorno de Gilles de la Tourette. El 43,1 % de los individuos con tics crónicos habían sido medicados, la mayoría con risperidona. Conclusiones De un modo general los resultados de este estudio son concordantes con los descritos en la literatura especializada, subrayándose la necesidad de considerar el diagnóstico en edades precoces, y señalándose la importancia de identificación y terapéutica adecuada de las comorbilidades.Introduction Tics are the most frequent abnormal movement in children. A familial history of tics and a personal and familial history of neurobehavioral disturbances are common in children with this abnormality. Tics may seriously compromise daily activities in affected individuals. Objective To identify the characteristics of tics in children and adolescents followed-up in the Neuropediatric Unit of the Hospital Geral de Santo António. Materials and methods We performed a retrospective analysis of patients with tics based on information collected from medical records. The diagnostic criteria of the DSM IV-TR 2000 of the American Psychiatric Association were used. Results The medical records of 78 children were analyzed, 84.6% of whom were boys. More than one third of the patients were aged 4 to 8 years old. In 5.1% of the patients tics developed before the age of 2 years. A familial history of tics, depression and obsessive disorder traits was found in approximately 30 % of patients. The most frequent comorbidity was attention deficit hyperactivity disorder (67.9 %). The occurrence of pediatric autoimmune neuropsychiatric disorders associated with streptococcus infection (PANDAS) was suggested in five patients. In all patients, motor tics occurred before vocal tics. In more than two thirds of the patients, tics were simple. In 59.0% of the patients, tics were chronic, and in 45.7% of these met the criteria for Tourette’s syndrome. A total of 43.1% of the patients with chronic tics received pharmacotherapy, risperidone being the most frequently used drug. Conclusions In general the results of the present study are in agreement with those of previous studies, underlining the need to consider a diagnosis of tics in young children and highlighting the importance of identification and appropriate treatment of comorbidities

Cefalea racimos en una niña de 3 años

Summary. Introduction. Cluster headache is a rare disorder in childhood. We identified, in the literature, 64 cases of cluster headache starting at or before 18 years (only 17 of them began before 10 years old). All patients met the criteria of the International Headache Society. Russell et al demonstrated recently that the cluster headache is an inherited disorder in some families. They conclude that the gene is present in 3 to 4% of males and 7 to 10% of females with cluster headache and that it has an autossomal dominant transmission. Clinical case. The authors report the clinical case of a five-year-old child with cluster headache starting at three years. This paper reviews the differential diagnosis and the treatment of cluster headach

Infección por Mycoplasma pneumoniae: tres casos con complicaciones neurológicas

Summary. Introduction. Mycoplasma pneumoniae infection has been associated with severe central nervous system diseases. The pathogenesis of these disorders is unknown and the treatment uncertain. Case reports. The authors present three cases of central nervous system diseases: acute transverse myelitis, cerebellitis and encephalomyelitis associated with M. pneumoniae infection. Conclusions. M. pneumoniae infection should be considered in all cases of severe acute central nervous system symptomatology. El Mycoplasma pneumoniae es un agente implicado frecuentemente en infecciones respiratorias de niños y adultos [1,2]. Se pueden producir complicaciones extrarrespiratorias básicamente mucocutáneas (eritema multiforme, eritema nudoso, síndrome de StevenJohnson), cardíacas (miocarditis, pericarditis), articulares (artritis), hematológicas (anemia hemolítica, trombocitopenia, coagulación vascular diseminada), pancreatitis, salpingitis y complicaciones neurológicas [13]. La implicación del sistema nervioso central (SNC) se estima en aproximadamente un 0,1% del total de infecciones producidas por M. pneumoniae, y puede afectar al 7% de los pacientes hospitalizados a causa de una infección producida por este agente [2,3]. Las complicaciones neurológicas incluyen: encefalitis, meningoencefalitis, encefalomielitis, polirradiculoneuropatía (como el síndrome de GuillainBarré), cerebelitis, psicosis, mielitis transversa y coma [14]. Presentamos tres casos clínicos con complicaciones neurológicas en el contexto de una infección por M. pneumoniae (mielitis transversa, cerebelitis, encefalomielitis), cuyo diagnóstico se estableció a partir de los análisis clínicos y los exámenes auxiliares de diagnóstico efectuados, principalmente las serologías seriadas. A infecção por Mycoplasma pneumoniae tem sido associada a múltiplas complicações neurológicas. A patogénese destas permanece incerta e o seu tratamento controverso. Casos clínicos. Os autores apresentam três casos de complicação neurológica em contexto de infecção pelo M. pneumoniae: mielite transversa, cerebelite e encefalomielite. Conclusão. A infecção por M. pneumoniae deve ser considerada em todos os casos de sintomatologia severa aguda do sistema nervoso centra

Guillain-Barré Syndrome in Pediatric Age - Management Guidelines

O protocolo de actuação na Síndrome de Guillain-Barré em idade pediátrica foi elaborado com o intuito de rever as mais recentes recomendações internacionais e de traçar linhas orientadoras de actuação. É constituído por duas partes: a primeira é a introdução teórica, resultante da revisão bibliográfica, e a segunda o Protocolo de actuação. Tratando-se de uma patologia para a qual ainda não existe um consenso, sobretudo no que respeita ao tratamento, optou-se por incluir as várias opções de tratamento recomendadas, permitindo a cada Unidade aplicar aquela com a qual possui mais experiência

Cerebral Sinovenous Thrombosis in Children: Clinical Presentation and Extension, Localization and Recanalization of Thrombosis

Many important questions regarding pathophysiology and treatment of cerebral sinovenous thrombosis need clarification and may depend on further knowledge on the etiology, site, extension and recanalization of the thrombosis. We studied these variables in a cohort of children and adolescents from seven Portuguese Centers. We conclude from our results that the deep venous system and the superior longitudinal sinus are less frequently affected with thrombosis but have a greater potential for serious neurologic disease and for major sequelae. Non-recanalization, at least in the long term, is not an adverse prognostic factor. Extensive propagation of the thrombus from the initial site of origin seems to be common. The early identification of risk factors and their treatment coupled with an aggressive attitude towards diagnosis and treatment for thrombosis involving the deep venous system would be warranted

Brain MRI in the Decision for Liver Transplantation in Pediatric Neurological Wilson's Disease

Background Neurological Wilson's disease (WD) presentation in the pediatric population is rare, and liver transplantation (LT) in these patients remains controversial. The aim of the present study was to assess the role of brain magnetic resonance imaging (MRI) in predicting reversion of brain lesions and neurological outcomes in pediatric WD patients after LT. Methods Patients with confirmed WD (Leipzig score ≥4), disease onset in pediatric age (<18 years), neurological involvement, and submitted to LT were selected. Clinical records and pre- and post-LT brain MRI were evaluated. Results Six patients met the pre-defined inclusion criteria, one of whom died shortly after LT and was excluded. The indication for LT was end-stage liver disease in two patients and neurological worsening despite optimized treatment in three patients. After LT, the neurological picture progressively improved in all patients. Pre-LT brain MRI showed T1-weighted hyperintensities in four patients, which quickly resolved afterward. T2-weighted hyperintensities were observed in four patients before LT, completely resolving in one patient, stabilizing in two, and improving in one after LT. A direct correlation could not be found between clinical and neuroradiological improvement. Progressive clinical improvement was observed even in patients with irreversible brain MRI changes. Conversely, some patients with normal MRI had only slight neurological improvement. Conclusions The pattern of T2-weighted hyperintensities after LT was unpredictable and did not correlate with neurological outcomes, suggesting that these changes may not entail irreversible clinical damage. Therefore, brain MRI does not seem to have prognostic value for assessing clinical response to LT

Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment

Background: Rett disorder (RD) is a progressive neurodevelopmental entity caused by mutations in the MECP2 gene. It has been postulated that there are alterations in the levels of certain neurotransmitters and folate in the pathogenesis of this disease. Here we re-evaluated this hypothesis. Patients and methods: We evaluated CSF folate, biogenic amines and pterines in 25 RD patients. Treatment with oral folinic acid was started in those cases with low folate. Patients were clinically evaluated and videotaped up to 6 months after therapy. Results: CSF folate was below the reference values in 32% of the patients. Six months after treatment no clinical improvement was observed. Three of the four patients with the R294X mutation had increased levels of a dopamine metabolite associated to a particular phenotype. Three patients had low levels of a serotonin metabolite. Two of them were treated with fluoxetine and one showed clinical improvement. No association was observed between CSF folate and these metabolites, after adjusting for the patients age and neopterin levels. Conclusion: Our results support that folinic acid supplementation has no significant effects on the course of the disease. We report discrete and novel neurotransmitter abnormalities that may contribute to the pathogenesis of RD highlighting the need for further studies on CSF neurotransmitters in clinically and genetically well characterized patients.Research in Rett syndrome is supported by FSE/FEDER and Fundação para a Ciência e Tecnologia (FCT, Portugal), Grant No. POCTI 41416/2001

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

Epilepsia. 2007 Sep;48(9):1678-85. Epub 2007 Jun 11. Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. Marini C, Mei D, Temudo T, Ferrari AR, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, Reid E, Michelucci R, Sicca F, Cross HJ, Guerrini R. SourceEpilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy. Abstract PURPOSE: SCN1A is the most clinically relevant epilepsy gene, most mutations lead to severe myoclonic epilepsy of infancy (SMEI) and generalized epilepsy with febrile seizures plus (GEFS+). We studied 132 patients with epilepsy syndromes with seizures precipitated by fever, and performed phenotype-genotype correlations with SCN1A alterations. METHODS: We included patients with SMEI including borderline SMEI (SMEB), GEFS+, febrile seizures (FS), or other seizure types precipitated by fever. We performed a clinical and genetic study focusing on SCN1A, using dHPLC, gene sequencing, and MLPA to detect genomic deletions/duplications on SMEI/SMEB patients. RESULTS: We classified patients as: SMEI/SMEB = 55; GEFS+= 26; and other phenotypes = 51. SCN1A analysis by dHPLC/sequencing revealed 40 mutations in 37 SMEI/SMEB (67%) and 3 GEFS+ (11.5%) probands. MLPA showed genomic deletions in 2 of 18 SMEI/SMEB. Most mutations were de novo (82%). SMEB patients carrying mutations (8) were more likely to have missense mutations (62.5%), conversely SMEI patients (31) had more truncating, splice site or genomic alterations (64.5%). SMEI/SMEB with truncating, splice site or genomic alterations had a significantly earlier age of onset of FS compared to those with missense mutations and without mutations (p = 0.00007, ANOVA test). None of the remaining patients with seizures precipitated by fever carried SCN1A mutations. CONCLUSION: We obtained a frequency of 71%SCN1A abnormalities in SMEI/SMEB and of 11.5% in GEFS+ probands. MLPA complements DNA sequencing of SCN1A increasing the mutation detection rate. SMEI/SMEB with truncating, splice site or genomic alterations had a significantly earlier age of onset of FS. This study confirms the high sensitivity of SCN1A for SMEI/SMEB phenotypes