Involuntary movements in a one and a half year old
Author: Pediatric Oncall
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.
• 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.