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Case report comments on diagnostic challenges, highlighting genetic evaluation for effective treatment.
This case highlights the diagnostic challenge of distinguishing periodic fever syndromes with prominent neurological features from interferonopathies. While the absence of specific features on MRI/MRA and SAVI reduces the likelihood of certain subtypes, genetic evaluation involving interferon pathway genes remains important. Early diagnosis can prevent complications and guide personalized treatment.
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Keleşoğlu et al. (2026) studied this question.
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