Characteristics of Opsoclonus-Myoclonus Syndrome in Patients of the Largest Pediatric Hospital in Latin America.

Autor: Zeny MS; Faculdades Pequeno Príncipe, Curitiba, PR, Brazil; Instituto de Pesquisa Pelé Pequeno Príncipe, Curitiba, PR, Brazil; Department of Child Neurology Hospital Pequeno Príncipe, Curitiba, PR, Brazil., do Valle DA; Faculdades Pequeno Príncipe, Curitiba, PR, Brazil; Instituto de Pesquisa Pelé Pequeno Príncipe, Curitiba, PR, Brazil; Department of Child Neurology Hospital Pequeno Príncipe, Curitiba, PR, Brazil., Santos MLSF; Department of Child Neurology Hospital Pequeno Príncipe, Curitiba, PR, Brazil., Bara TS; Faculdades Pequeno Príncipe, Curitiba, PR, Brazil; Instituto de Pesquisa Pelé Pequeno Príncipe, Curitiba, PR, Brazil., Cordeiro ML; Faculdades Pequeno Príncipe, Curitiba, PR, Brazil; Instituto de Pesquisa Pelé Pequeno Príncipe, Curitiba, PR, Brazil; Department of Psychiatry and Biological Behavioral Sciences, University of California Los Angeles (UCLA), Los Angeles, California. Electronic address: mcordeiro@mednet.ucla.edu.
Jazyk: angličtina
Zdroj: Pediatric neurology [Pediatr Neurol] 2024 May; Vol. 154, pp. 9-14. Date of Electronic Publication: 2024 Jan 05.
DOI: 10.1016/j.pediatrneurol.2023.12.028
Abstrakt: Background: Opsoclonus-myoclonus syndrome (OMS) is a rare neuroinflammatory disorder characterized by ataxia, opsoclonus, and myoclonus. Clinical diagnosis of OMS has been challenging; therefore, we sought to determine the clinical and treatment profiles of patients with OMS at the largest pediatric hospital in Latin America.
Methods: We analyzed the data of patients diagnosed with OMS between 2010 and 2020 at Pequeno Principe Hospital (Brazil) to determine the corresponding clinical profile more accurately.
Results: Of the approximately 50,000 visitors to our pediatric neurology department from 2010 to 2020, 10 patients with OMS were observed. Five nontumor cases included three parainfectious and two idiopathic cases. The median time from symptom onset to diagnosis was 34 days. All patients with diagnostic OMS criteria in the idiopathic, nontumor group underwent whole-exome sequencing, with potentially pathogenic mutations identified in two cases. Nine patients were treated with methylprednisolone pulse, followed by oral steroids; eight received one or more intravenous immunoglobulin treatments; and six received azathioprine and cyclophosphamide. Complete symptomatic recovery was observed in only one patient.
Conclusions: OMS diagnosis remains challenging. Diagnostic suspicion is necessary to improve the management of these patients and allow early immunosuppressive treatment. Paraneoplastic etiology is the most prevalent. In idiopathic patients who do not respond to immunosuppressive treatment, tests, such as whole-exome sequencing, may reveal a differential diagnosis. Genetic alterations that increase the risk of tumors may be an important clue to the pathophysiology of OMS.
Competing Interests: Declaration of competing interest None.
(Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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