[Opsoclonus myoclonus ataxia syndrome in Israel].
Аннотация
BACKGROUND
Opsoclonus-myoclonus-ataxia (OMS) is a rare, autoimmune, neurobehavioral syndrome that presents with a movement disorder, developmental regression, behavior disorder and cognitive decline. The syndrome is more prevalent in the first two years of life but can also affect adults. The diagnosis is based on the combination of clinical signs and assessment of the cerebrospinal fluid (CSF) for subtypes of T and B lymphocytes. Since it is a paraneoplastic disorder in 50% of cases, it is imperative to search for a neural crest tumor. The treatment is complex and prolonged and the prognosis depends on early diagnosis and full treatment.
AIMS: Description of the experience of the Pediatric Movement Disorder Service at Wolfson Medical Center in the diagnosis and treatment of opsoclonus-myoclonus-ataxia syndrome.
METHODS
The files of all the patients who were evaluated for OMS in the last 4 years were reviewed. Five of ten patients were diagnosed and treated.
RESULTS
The age at presentation was 5 to 20 months. In 4 children the diagnosis was delayed beyond 3 months. All the patients were males. A neuroblastoma was found in one patient. Four children had behavioral and sleep disturbances which necessitated treatment. All the children were treated with adrenocorticotropic hormone (ACTH) and immunoglobulins. CSF lymphocyte immunophenotyping was pathologic in 4 patients and they were treated with rituximab. All the children showed developmental delay and received rehabilitation. Two children completed the treatment. The child who received early treatment shows normal development. The other has language delay.
CONCLUSIONS
Although opsoclonus-myoclonus-ataxia is a rare disorder, it is necessary to increase the physicians' awareness of this syndrome in order to enable early diagnosis and treatment.
Предметные рубрики MeSH
Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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