Question of the Week

Question :
Posted On : 03 Sep 2023
A one and a half year old female child presented with seizures that were generalized tonic in nature lasting for about 2-3 minutes not followed by any post ictal events or loss of consciousness. CT, EEG and MRI were done. All were inconclusive. She continued to have seizures in spite of antiepileptic. She was neurologically normal with normal birth history and no history of any head injury. Lab parameters were normal (Calcium, phosphorus, sodium, potassium, chloride). She had multiple hyopigmented patch over her both lower limbs. What is the diagnosis and whether it was prudent in treating her seizures? Was it a case of resistant seizures?
Expert Answer :
In true epileptic seizures, there should be some alteration of consciousness if the patient is jerking all four limbs. Hypopigmented patches are seen in Tuberous Sclerosis (MRI should have shown tubers), hypomelanosis of Ito{ usually developmental delay}. If patches are vitiliginous consider an autoimmune workup. An unusual cause of refractory seizures in previously normal children is Anti-NMDA encephalitis.
Answer Discussion :
Tuberous sclerosis
15 Days ago
Sanjae-Ann Dean
Neurocutaneous syndrome - TSC or NF1
16 Days ago
Ali Ali
16 Days ago
Gladys Yonah
lesions are cafe au lait, suggesting a neurological error, probably inborn error of metabolism
17 Days ago
Candice Bair
TSC with possibility if traveled recently Lyme disease can cause the following symptoms as well
18 Days ago

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