Síndrome opsoclono-mioclono: características clínicas, aspectos terapéuticos y factores pronósticos en una cohorte pediátrica española / Opsoclonus-myoclonus syndrome: clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort

Introducción: El síndrome opsoclono-mioclono-ataxia es un raro trastorno de inicio pediátrico; de base neuroinflamatoria y origen paraneoplásico, parainfeccioso o idiopático. Actualmente no hay biomarcadores, siendo el diagnóstico clínico. El pronóstico cognitivo parece estar relacionado con el inicio temprano de la terapia inmunomoduladora.MétodoSe describen las características epidemiológicas, clínicas, terapéuticas y pronósticas a largo plazo de una cohorte de 20 pacientes españoles.ResultadosLa edad media de debut fue de 21 meses (2-59 meses). La ataxia y el opsoclonus fueron los síntomas de inicio más frecuentes y predominantes en la evolución. El tiempo medio desde los primeros síntomas hasta el diagnóstico fue de 1,1 mes. Un tumor de extirpe neuroblástica fue detectado en el 45%, realizándose resección quirúrgica en siete y quimioterapia en dos pacientes. En el estudio de líquido cefalorraquídeo se constató pleocitosis en cuatro (25%), con negatividad de anticuerpos antineuronales y bandas oligoclonales en todos los casos estudiados. En el 100% se emplearon fármacos inmunomoduladores. En nueve pacientes el tratamiento combinado inmunomodulador se inició desde el momento del diagnóstico, y en cinco el tiempo medio de implementación fue de 2,2 meses. A largo plazo, seis de 10 pacientes con seguimiento superior a cinco años presentaban secuelas cognitivas leves o moderadas; cuatro pacientes presentaron recaídas, generalmente coincidiendo con el descenso de la corticoterapia.ConclusionesEl inicio precoz de la inmunoterapia, así como de la triple terapia en los casos que lo precisaron, se relacionó con una menor frecuencia de afectación cognitiva a los dos años del debut. (AU)

Introduction: Opsoclonus-myoclonus-ataxia syndrome is a rare neuroinflammatory disorder with onset during childhood; aetiology may be paraneoplastic, para-infectious, or idiopathic. No biomarkers have yet been identified, and diagnosis is clinical. Better cognitive prognosis appears to be related to early onset of immunomodulatory therapy.MethodsWe describe the epidemiological, clinical, therapeutic, and long-term prognostic characteristics of a cohort of 20 Spanish patients.ResultsThe mean age of onset was 21 months (range, 2-59). Ataxia and opsoclonus were the most frequent symptoms both at disease onset and throughout disease progression. The mean time from onset to diagnosis was 1.1 months. Neuroblast lineage tumours were detected in 45% of patients; these were treated with surgical resection in 7 cases and chemotherapy in 2. Cerebrospinal fluid analysis revealed pleocytosis in 4 cases (25%) and neither antineuronal antibodies nor oligoclonal bands were detected in any patient. Immunomodulatory drugs were used in all cases. Nine patients started combined immunomodulatory treatment at the time of diagnosis, and 5 patients after a mean of 2.2 months. In the long term, 6 of the 10 patients followed up for more than 5 years presented mild or moderate cognitive sequelae. Four patients presented relapses, generally coinciding with the decrease of corticosteroid doses.ConclusionsEarly initiation of immunotherapy, as well as triple combination therapy, where needed, was associated with a lower frequency of cognitive impairment 2 years after onset. (AU)

Opsoclonus-myoclonus syndrome: Clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort.

INTRODUCTION: Opsoclonus-myoclonus-ataxia syndrome is a rare neuroinflammatory disorder with onset during childhood; aetiology may be paraneoplastic, para-infectious, or idiopathic. No biomarkers have yet been identified, and diagnosis is clinical. Better cognitive prognosis appears to be related to early onset of immunomodulatory therapy. METHODS: We describe the epidemiological, clinical, therapeutic, and long-term prognostic characteristics of a cohort of 20 Spanish patients. RESULTS: The mean age of onset was 21 months (range, 2-59). Ataxia and opsoclonus were the most frequent symptoms both at disease onset and throughout disease progression. The mean time from onset to diagnosis was 1.1 months. Neuroblast lineage tumours were detected in 45% of patients; these were treated with surgical resection in 7 cases and chemotherapy in 2. Cerebrospinal fluid analysis revealed pleocytosis in 4 cases (25%) and neither antineuronal antibodies nor oligoclonal bands were detected in any patient. Immunomodulatory drugs were used in all cases. Nine patients started combined immunomodulatory treatment at the time of diagnosis, and 5 patients after a mean of 2.2 months. In the long term, 6 of the 10 patients followed up for more than 5 years presented mild or moderate cognitive sequelae. Four patients presented relapses, generally coinciding with the decrease of corticosteroid doses. CONCLUSIONS: Early initiation of immunotherapy, as well as triple combination therapy, where needed, was associated with a lower frequency of cognitive impairment 2 years after onset.

Opsoclonus-myoclonus syndrome: clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort. / Síndrome opsoclono-mioclono: características clínicas, aspectos terapéuticos y factores pronósticos en una cohorte pediátrica española.

INTRODUCTION: Opsoclonus-myoclonus-ataxia syndrome is a rare neuroinflammatory disorder with onset during childhood; aetiology may be paraneoplastic, para-infectious, or idiopathic. No biomarkers have yet been identified, and diagnosis is clinical. Better cognitive prognosis appears to be related to early onset of immunomodulatory therapy. METHODS: We describe the epidemiological, clinical, therapeutic, and long-term prognostic characteristics of a cohort of 20 Spanish patients. RESULTS: The mean age of onset was 21 months (range, 2-59). Ataxia and opsoclonus were the most frequent symptoms both at disease onset and throughout disease progression. The mean time from onset to diagnosis was 1.1 months. Neuroblast lineage tumours were detected in 45% of patients; these were treated with surgical resection in 7 cases and chemotherapy in 2. Cerebrospinal fluid analysis revealed pleocytosis in 4 cases (25%) and neither antineuronal antibodies nor oligoclonal bands were detected in any patient. Immunomodulatory drugs were used in all cases. Nine patients started combined immunomodulatory treatment at the time of diagnosis, and 5 patients after a mean of 2.2 months. In the long term, 6 of the 10 patients followed up for more than 5 years presented mild or moderate cognitive sequelae. Four patients presented relapses, generally coinciding with the decrease of corticosteroid doses. CONCLUSIONS: Early initiation of immunotherapy, as well as triple combination therapy, where needed, was associated with a lower frequency of cognitive impairment 2 years after onset.

Amioplasia congénita / Amyoplasia congenita

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[Factors related to the short term remission of tics in children with Tourette syndrome]. / Factores que influyen en la remisión a corto plazo de los tics en niños con síndrome de Gilles de la Tourette.

INTRODUCTION: Tourette syndrome shows a fluctuating evolution, often masked by its comorbidity. OBJECTIVE: To study the clinical factors predicting the initial remission of tics in children with Tourette syndrome. Patients and methods. All patients attended during the last 5 years at a Child Neurology hospital based out patient clinic, with the diagnosis of Tourette syndrome according to DSM IV criteria, were selected. OUTCOME MEASURE: total remission of tics during at least 3 months, evaluated during the patient s second visit to our clinic. Demographic, clinic and therapeutic variables were studied. Statistical analysis was based on the Student t test or non parametric tests, as necessary. RESULTS: 53 patients, 44 males and 9 females. Age at starting tics: 6.9 2.2 years, time of evolution: 2 years (range: 1 9.4). Comorbidity in 51%: 34% with attention deficit hyperactivity disorder (ADHD), 17% with obsessive compulsive disorder (OCD) and school underachievement: 26%. Familial antecedents of tics, OCD, or ADHD: 49%. Tics remission at second visit to our clinic: 41.5%. Patients without remission were those with an earlier onset of tics (p=0.085), longer time of evolution (p< 0.05), or school underachievement (p= 0.024). Remission was not statistically associated with treatment. OCD and ADHD were associated with school failure but were not related to the tics evolution. CONCLUSION: The short term (at second visit), temporal (minimum 3 months) total remission of Tourette syndrome was not related to treatment but to previous duration of the syndrome and to factors (other than OCD and ADHD) that lead to school failure.

Factores que influyen en la remisión a corto plazo de los tics en niños con síndrome de Gilles de la Tourette / Factors related to the short-term remission of tics in children with Tourette syndrome

Introducción. El síndrome de Gilles de la Tourette (SGT) tiene una evolución fluctuante, frecuentemente enmascarada por la comorbilidad que presenta, y de difícil predicción. Objetivo. Estudiar los factores que puedan predecir la remisión inicial, transitoria o no, del SGT. Pacientes y métodos. Se seleccionaron los pacientes con SGT, según los criterios del DSM-IV, atendidos en la consulta de Neuropediatría durante los últimos cinco años. La variable de interés fue la remisión de los tics durante al menos tres meses, evaluada en la segunda visita y analizada en relación con los parámetros demográficos, clínicos y terapéuticos. El método estadístico utilizado se basó en la t de Student cuando la distribución fue normal, y en pruebas no paramétricas en caso contrario. Resultados. De los 53 pacientes, 44 eran varones y nueve mujeres. La edad media de inicio de los tics fue de 6,9 ñ 2,2 años y el tiempo de evolución, de dos años (intervalo: 1-9,4). Asociaban trastornos comórbidos el 51 por ciento de ellos: el 34 por ciento presentó trastorno por déficit de atención con hiperactividad (TDAH), el 17 por ciento, trastorno obsesivo compulsivo (TOC), y mal rendimiento escolar, el 26 por ciento. Encontramos antecedentes familiares de tics, TOC o TDAH en el 49 por ciento. Los tics habían remitido en la segunda visita en el 41,5 por ciento del total de pacientes, y fue menos frecuente dicha remisión en los de inicio más temprano (p = 0,085), mayor tiempo de evolución (p < 0,05) y mal rendimiento escolar (p = 0,024). La remisión no se asoció a la instauración del tratamiento. El TDAH y el TOC se asociaron al mal rendimiento escolar, pero no a la remisión/persistencia de los tics. Conclusión. En la remisión temporal (mínimo: 3 meses) y a corto plazo (segunda visita) del SGT no influye la administración de tratamiento, sino la duración previa del síndrome y factores (aparte del TDAH y el TOC) que condicionen un mal rendimiento escolar (AU)

Introduction. Tourette syndrome shows a fluctuating evolution, often masked by its comorbidity. Objective. To study the clinical factors predicting the initial remission of tics in children with Tourette syndrome. Patients and methods. All patients attended during the last 5 years at a Child Neurology hospital-based out-patient clinic, with the diagnosis of Tourette syndrome according to DSM-IV criteria, were selected. Outcome measure: total remission of tics during at least 3 months, evaluated during the patient’s second visit to our clinic. Demographic, clinic and therapeutic variables were studied. Statistical analysis was based on the Student t test or non parametric tests, as necessary. Results. 53 patients, 44 males and 9 females. Age at starting tics: 6.9 ± 2.2 years, time of evolution: 2 years (range: 1-9.4). Comorbidity in 51%: 34% with attention deficit hyperactivity disorder (ADHD), 17% with obsessive compulsive disorder (OCD) and school underachievement: 26%. Familial antecedents of tics, OCD, or ADHD: 49%. Tics remission at second visit to our clinic: 41.5%. Patients without remission were those with an earlier onset of tics (p = 0.085), longer time of evolution (p < 0.05), or school underachievement (p = 0.024). Remission was not statistically associated with treatment. OCD and ADHD were associated with school failure but were not related to the tics evolution. Conclusion. The short-term (at second visit), temporal (minimum 3 months) total remission of Tourette syndrome was not related to treatment but to previous duration of the syndrome and to factors (other than OCD and ADHD) that lead to school failure (AU)

Amnesia global transitoria: una enfermedad del adulto presente en la infancia / Global transitory amnesia: An adult disorder also present in childhood

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