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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.
Neurology
|December 3, 2025
Summary
A child
Area of Science:
- Pediatric Neurology
- Neurogenetics
Background:
- A 5-year-old presented with progressive multifocal myoclonus and functional decline.
- Initial workup revealed a genetic finding suggesting epileptic encephalopathy.
Purpose of the Study:
- To highlight the importance of clinical history in diagnosing complex pediatric neurological disorders.
- To illustrate a case where genetic findings were initially misleading.
Main Methods:
- Detailed clinical history and neurologic examination.
- Review of diagnostic workup including genetic testing.
Main Results:
- Key historical details contradicted a purely genetic etiology.
- Suspicion shifted towards an acquired neurological condition.
Conclusions:
- A thorough clinical evaluation is crucial, especially when genetic results are inconsistent with the patient's presentation.
- This case underscores the need to consider acquired conditions alongside genetic diagnoses in pediatric neurology.
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