Brain & development · 2025
Diagnostic odyssey of opsoclonus-myoclonus syndrome and barriers to early detection.
СтатьяНазвание и аннотация: Перевод в очереди
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Tsuiki Nobuaki, Hayakawa Itaru, Abe Yuichi
Аннотация
OBJECTIVES: Opsoclonus-myoclonus syndrome (OMS) is a rare immune-mediated disorder of central nervous systems characterized by chaotic eye movements (opsoclonus), myoclonus, ataxia, and behavioral disturbances. OMS remains diagnostically challenging despite its recognizable clinical features.
METHODS: We conducted a single-center cohort study of patients with OMS at a tertiary care children's medical center (2002-2024). Using the diagnostic odyssey plot methodology, we mapped individual diagnostic pathways, compared early (≤28 days) versus delayed (>28 days) diagnosis groups, and analyzed symptoms as well as patterns of diagnostic errors.
RESULTS: Twenty cases were ascertained. Ten patients were diagnosed early (median 16.5 days), while the remaining experienced a delayed diagnosis (equal to or more than 28 days, median 124 days). Provisional diagnoses of acute cerebellar ataxia, acute disseminated encephalomyelitis, and acute cerebellitis were common. Analysis of symptoms revealed that nystagmus appeared at the same time in both the early- and delayed-diagnosed groups, but opsoclonus was recognized later in the delayed diagnosed group (11.5 days versus 96 days, p < 0.01). The presence or absence of neuroblastoma did not contribute to the diagnostic delay.
CONCLUSIONS: The unique diagnostic journey of OMS is presented. Reconsidering the diagnosis in cases of prolonged or relapsing ataxia and recognizing opsoclonus early on are vital for the early detection of OMS.
METHODS: We conducted a single-center cohort study of patients with OMS at a tertiary care children's medical center (2002-2024). Using the diagnostic odyssey plot methodology, we mapped individual diagnostic pathways, compared early (≤28 days) versus delayed (>28 days) diagnosis groups, and analyzed symptoms as well as patterns of diagnostic errors.
RESULTS: Twenty cases were ascertained. Ten patients were diagnosed early (median 16.5 days), while the remaining experienced a delayed diagnosis (equal to or more than 28 days, median 124 days). Provisional diagnoses of acute cerebellar ataxia, acute disseminated encephalomyelitis, and acute cerebellitis were common. Analysis of symptoms revealed that nystagmus appeared at the same time in both the early- and delayed-diagnosed groups, but opsoclonus was recognized later in the delayed diagnosed group (11.5 days versus 96 days, p < 0.01). The presence or absence of neuroblastoma did not contribute to the diagnostic delay.
CONCLUSIONS: The unique diagnostic journey of OMS is presented. Reconsidering the diagnosis in cases of prolonged or relapsing ataxia and recognizing opsoclonus early on are vital for the early detection of OMS.