Diagnostic Dilemma

Involuntary movements in a one and a half year old

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.

How to manage the case further_?
Answer Discussion :
Ayesha Batool
CSF anti-NMDA Antibodies. Rule out autoimmune encephalitis.
Try Lacosamide to control the seizures. Withdraw valproate in 1 and a half year old child.

7 years ago
Metabolic screen
7 years ago

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