Dados do Trabalho

Título

OPSOCLONUS MYOCLONUS SYNDROME: A BRAZILIAN PERSPECTIVE

Introdução

Opsoclonus myoclonus syndrome (OMAS) is a rare neurological disorder characterized by acute onset of opsoclonus, myoclonia, ataxia, and mood/sleep disorders. There is compelling evidence supporting it is an immune-mediated disorder, paraneoplastic in half of cases. This syndrome is linked with potential cognitive impairment.

Objetivo

We aim to describe demographic, clinical, paraclinical and prognostic aspects of OMAS patients from five centers in Brazil.

Método

Multicentric study of OMAS patients from Brazil. Patients were included if they fulfilled Genova’s diagnostic criteria and were follow for less than 5 years since disease onset. Data was retrospectively collected. Outcome at last follow-up (FU) were measured by clinical remission, Michell-Pike scale, social/behavioral problems, sleep problems, learning disabilities at last follow-up.

Resultados

Twenty-seven patients were included. Most were female (59.3%) from mixed background ethnicity (59.3%). Median (IQR) age at symptom onset was 15.7 (12.2-22.5) months. Tremor/dysmetria and ataxia were the most common disease first manifestation. Median time to diagnosis was 28 days. In most patients (55.5%) a tumor was found, neuroblastoma was the most common. Most patients (76%) relapsed, with a median (range) of 2 (1-6) relapses by patient. Intravenous immunoglobulin was the most common prescribed immunotherapy, followed by oral steroids. At last FU, one patient died, 19.2% patients reached clinical remission, 42.3% patients had behavioral problems and 26.9% patients had learning disabilities. Longer time to diagnosis (0.02) and longer time to initiate therapy (0.007) was associated with learning problems at last FU.

Conclusão

OMAS is a highly disabling condition. In this multicentric Brazilian cohort poor outcome at last FU was influenced by disease course and treatment.

Referências

Matthay KK, Blaes F, Hero B, Plantaz D, De Alarcon P, Mitchell WG, et al. Opsoclonus myoclonus syndrome in neuroblastoma a report from a workshop on the dancing eyes syndrome at the advances in neuroblastoma meeting in Genoa, Italy, 2004. Cancer Lett. 2005;228(1-2):275-82.
Pike M. Opsoclonus-myoclonus syndrome. Handb Clin Neurol. 2013;112:1209-11.
Pranzatelli MR, Tate ED, McGee NR. Demographic, Clinical, and Immunologic Features of 389 Children with Opsoclonus-Myoclonus Syndrome: A Cross-sectional Study. Front Neurol. 2017;8:468.
Rossor T, Yeh EA, Khakoo Y, et al. Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children: An International Perspective. Neurol Neuroimmunol Neuroinflamm. 2022;9(3):e1153. Published 2022 Mar 8.
Yıldırım M, Öncel İ, Bektaş Ö, et al. Clinical features and outcomes of opsoclonus myoclonus ataxia syndrome. Eur J Paediatr Neurol. 2022;41:19-26. doi:10.1016/j.ejpn.2022.09.002

Palavras Chave

Opsoclonus-Myoclonus Syndrome; ataxia; Myoclonus