This chapter examines the case of a man diagnosed with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). He developed nocturnal attacks at the age of 6 months. These attacks were brief and associated with stiffening of the limbs without loss of consciousness. Despite multiple trials of antiepileptic drugs, the attacks continued in clusters of 10-20 per night with several weeks between bouts. Because of the uncertainty of the diagnosis, the patient had prolonged video-EEG monitoring. A total of 46 seizures with stereotyped clinical manifestations were recorded. The seizures started with facial movements and were sometimes associated with a groan. Six years after the episode of status epilepticus, his nearly 4-year-old daughter developed similar nocturnal attacks. They were also associated with respiratory distress and tonic posturing, and they also occurred in clusters. Sleep EEG was normal. After the introduction of carbamazepine 200 mg/day she had a few attacks and then became seizure-free. ADNFLE is being increasingly diagnosed. Patients have normal MRI scans and often do not show interictal or ictal EEG abnormalities. Carbamazepine appears to be the most effective antiepileptic drug, but up to 30% could be refractory to treatment. As the proband of this family presented as a sporadic case, it is possible that other sporadic cases may also prove to be familial, highlighting the importance of considering the diagnosis in apparently sporadic patients with frontal lobe epilepsy who do not have a demonstrable structural lesion.
|Title of host publication||Puzzling Cases of Epilepsy|
|Place of Publication||New York, USA|
|Number of pages||3|
|Publication status||Published - 2008|