Year: 2025
Type: article
Study design: Case Report
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.
Source: Neurology
Authors: Paul S. Park, Duong T. Chu, Nigel S. Bamford
Institutions: Yale University, University of Washington
Language: English
Subfield: Psychiatry and Mental health
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4417035533