Involuntary movements in a one and a half year old
Author: Pediatric Oncall
Question.
A 1½ year old boy born of non-consanguineous marriage presented with involuntary movements of entire body since 6 months. There were no precipitating factors and milestones were normal upto 6 months of age. These movements used to disappear in sleep. On examination, he had hypotonia with bilateral choreoathetoid movements with focal seizures in between. Other examination findings were normal.

Investigations revealed:-
• EEG – Grossly abnormal
• MRI brain – Hypomyelination which was normal for age
• EMG, NCV – Suggestive of myopathy
• UAA, PAA – Normal
• S. ammonia and venous blood gas = Normal
• CSF lactate, Blood lactate and pyruvate = Normal
• Ophthalmology examination = Normal
• Serum Vitamin B12 levels = Normal

He was treated with Haloperidol. Valproate, Topiramate and Carbamazepine but there was no improvement.

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