RT Journal Article
T1 Opsoclonus-myoclonus syndrome: clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort
A1 Cantarin-Extremera, V.
A1 Jimenez-Legido, M.
A1 Aguilera-Albesa, S.
A1 Hedrera-Fernandez, A.
A1 Arrabal-Fernandez, L.
A1 Gorria-Redondo, N.
A1 Marti-Carrera, I.
A1 Yoldi-Pedtri, M. E.
A1 Gonzalez-Gutierrez-Solana, L.
A1 Sagaseta-De Ilurdoz, M.
K1 Opsoclonus-myoclonus-ataxia syndrome
K1 Neuroinflammation
K1 Immunotherapy
K1 MIBG
K1 Neuroblastoma
K1 Neurocognitive
K1 Follow-up
K1 Neuroblastoma
K1 Ataxia
K1 Children
K1 Diagnosis
K1 Features
AB Introduction: Opsoclonus-myoclonus-ataxia syndrome is a rare neuroinflammatory disorderwith 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 meantime 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. (c) 2020 Sociedad Espa nola de Neurologia. Published by Elsevier Espana, S.L.U. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/ 4.0/).
PB Elsevier espana slu
SN 0213-4853
YR 2023
FD 2023-02-24
LK https://hdl.handle.net/10668/26269
UL https://hdl.handle.net/10668/26269
LA en
DS RISalud
RD Apr 4, 2025