Abstract
Purpose
Russel described a rare clinical entity known as diencephalic syndrome (DS) in 1951, which was traditionally caused by a neoplasm in the hypothalamic–optic chiasmatic region. DS is characterized by severe emaciation despite adequate or slightly reduced caloric intake, locomotor hyperactivity, euphoria and other minor features. Current evidence suggests that a rare population of children with a similar phenotype may have their tumor located in the posterior fossa instead, defining the DS-like presentation, a rare entity with few cases reported in the literature.
Methods
A thorough search of three databases (PubMed, Ovid Medline, and Ovid Embase) was conducted to identify relevant papers reporting children with DS associated with brainstem tumors. To our knowledge, only seven cases have been documented in the literature. Moreover, we present four of our own cases, focusing on the unusual clinical presentation, the diagnosis process, and the lag time between the initial symptoms and the definitive diagnosis.
Results
In this review, the mean lag time between the onset of symptoms and diagnosis was 20.9 months (median: 16 months; range: 1.5–72 months), whereas in our series of cases, the time was 32.5 months (median: 33 months; range: 7–57 months).
Conclusion
Despite recent significant advances in neuro-oncology diagnostic tools, this mean lag time did not improve when compared with the previous literature review from 1976. Throughout these data, we aim to raise awareness in the hopes of detecting intracranial neoplasms earlier in cases of children with profound emaciation of unknown cause.
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Data availability
The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.
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Acknowledgements
We thank the patients and their families who enrolled in this study.
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Conceptualization: Nasjla Saba da Silva, Louise Scridelli Tavares; methodology: Nasjla Saba da Silva, Louise Scridelli Tavares; formal analysis and investigation: Nasjla Saba da Silva, Louise Scridelli Tavares, Ricardo Silva Pinho; writing—original draft preparation: Louise Scridelli Tavares; writing—review and editing: Ricardo Silva Pinho, Marcelo Aragão de Melo, Andréa Maria Cappellano, Patrícia Alessandra Dastoli, Sérgio Cavalheiro; supervision: Nasjla Saba da Silva.
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Tavares, L.S., Pinho, R.S., Aragão, M.d.M. et al. Diencephalic syndrome-like presentation of brainstem tumor: a series case-based review. Childs Nerv Syst 39, 1115–1122 (2023). https://doi.org/10.1007/s00381-023-05869-5
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DOI: https://doi.org/10.1007/s00381-023-05869-5