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Clinical Reasoning: A 5-year-Old Boy With Subacute and Refractory Myoclonus
Paul S Park1,2, Duong T Chu2, Nigel S Bamford1,2,3,4
1Department of Pediatrics, Yale University, New Haven, CT.
Abstract:
We present a case of a 5-year-old, who developed refractory, multifocal myoclonus, which progressed over several weeks, leading to a profound functional decline. The diagnostic workup was complicated by a compelling genetic finding that suggested a possible primary epileptic encephalopathy. However, meticulous history-taking uncovered key details inconsistent with a purely genetic disorder, raising suspicion for an alternative, acquired condition. This case highlights the critical importance of a detailed clinical history and neurologic examination to guide the diagnostic process, particularly when a patient's evolving story does not fully align with initial genetic testing.
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