Rhizomelic chondrodysplasia punctata: Role of EEG as a biomarker of impending epilepsy.

Abstract

Progressive deterioration of neuroimaging and electroencephalography (EEG) had been described in rhizomelic chondrodysplasia punctata (RCDP); however, serial EEG data showing sequential EEG changes(before and after seizure onset) is lacking. We report a child with a diagnosis of type 1 RCDP, who had a progressive decline in EEG and radiologic findings over a 5 year period. Her first EEG was normal at the age of 8 months. Follow-up EEG at the age of 2 years showed a mild background slowing as well as frequent 1–2 Hz central-parietal spike wave with midline involvement. Just before 3 years of age, she started to seizures, when the EEG showed further worsening with frequent multifocal spikes and bursts of generalized high amplitude spike and spike-wave discharges. The transition of EEG from normal background to the appearance of focal epileptiform abnormality before the seizure onset followed by further deterioration at the seizure onset had not been reported as per our knowledge. This study emphasizes that serial EEGs may provide valuable information about impending seizure activity. Further studies are needed to calculate the lag time between the detection of epileptiform activities and the onset of clinical seizure activities. In addition, research studies are warranted to determine if early (before or at the onset of epileptogenesis rather than after seizure onset) use of replacement therapy or antiepileptic therapy (antiepileptic drugs or diet) can modify epilepsy severity and neurologic prognosis in this devastating disease.