Published onChildren's Doctor
A 6-month-old previously healthy girl presents with 4 days of abnormal movements. Initially her mother noticed isolated episodes of the patient opening her eyes very wide. These progressed into episodes where she would suddenly lift her arms above her head and cry out. The movements have increased in frequency and started to occur in clusters over the past 2 days. She has otherwise been breastfeeding and acting normally. She was born full term after a healthy pregnancy. She has met her developmental milestones on time. Her physical exam is notable for several hypomelanotic macules, but is otherwise normal.
What two tests are needed to confirm the diagnosis?
Bonus: What is the most appropriate treatment for the suspected condition?