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.

[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.