Background
Carbamazepine is an important treatment for epileptic disorders, bipolar disorder and trigeminal neuralgia. However, some patients would suffer from cutaneous adverse drug reactions (cADRs) after taking it. At present, the carbamazepine-induced drug reaction has a great relationship with genetic diversity. The present study reported a patient who presented with rash after starting carbamazepine, and a whole genome analysis was reported.
Case presentation
A 17-year-old girl was transferred to our Neurology Department with symptoms of painful neck and seizures. Skull computerized tomography (CT) revealed subarachnoid hemorrhage. Electroencephalogram (EEG) revealed sharp waves, spikes slow waves and sharp slow waves. The clinical diagnosis of subarachnoid hemorrhage and symptomatic epilepsy were made through a series of inspections. Carbamazepine was administered. The patient presented with rash at six days after starting carbamazepine, and presented with a striking clinical drug reaction. Hence, a whole genome analysis was carried out. And the Met1080Val mutation was found in the SCN4A gene (SCN4A: c.3238T>C|p.Met1080Val).
Discussion
The result revealed that the mutation of Met1080Val in the SCN4A gene was associated with the carbamazepine-induced drug reaction. However, this conclusion needs to be confirmed by a large number of clinical data and related functional mechanisms.