ABSTRACT

Case Presentation .....................................................................................................99 Differential Diagnosis ............................................................................................ 100 Diagnostic Approach ............................................................................................. 101 Treatment Strategy ................................................................................................. 101 Long-Term Outcome .............................................................................................. 102 Pathophysiology/Neurobiology of Disease ............................................................ 102 Clinical Pearls ........................................................................................................ 103 Suggested Reading ................................................................................................. 103

A 10-month-old boy presented with intermittent body jerks. These had been noted by his parents for the preceding three weeks, but have become more intense. The jerks occur when the infant is awake and are characterized by sudden exion of the neck, shrugging of the shoulders, and elevation of the arms. They may occur singly or in brief clusters of two to three repetitive jerks with a repetition rate faster than 3 Hz. The jerks have not resulted in any drops, and the child quickly resumes activities without any apparent alteration. There have been no other seizures. This occurs against the backdrop of a normal child. There are no risk factors for epilepsy and no family members with seizure disorders or other neurological issues. General physical examination and detailed neurological examination were both normal. Because the jerks were occurring with increasing frequency, 2-3 hours of video-EEG was performed to capture and better characterize the events. Several typical jerks were recorded. The clinical events consisted of a brief head nod with elevation of the shoulders and arms. The EEG accompaniment was a brief burst of diffuse spike-wave discharges (Figure 12.1). After extensive discussion of treatment options, the family declined treatment with valproic acid and elected to begin levetiracetam. Within two weeks, the boy developed a diffuse erythematous rash involving the palms and soles.