Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.
Bottom Line: Among these, five patients (2.3%) were found with one of the three common POLG mutations as homozygous or compound heterozygous states.Three patients later developed liver dysfunction, progressing to fatal liver failure in two without previous treatment with sodium valproate (VPA).Furthermore, it is worth mentioning that one patient presented first with an autism spectrum disorder before seizures emerged.
Affiliation: Nuffield Department of Obstetrics and Gynaecology, The Women's Centre, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom.Show MeSH
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Mentions: In the prospective cohort the first epileptic seizures manifested at a mean age of 3.7 years (range 5 h to 15.3 years). The first clinical symptoms were epileptic seizures (patients 1, 3, and 5), ataxia (patient 2), and behavioral and developmental problems with autistic features (patient 4). The seizures included neonatal seizures (one patient), drop attacks and atypical absences with myoclonia (one patient), focal epileptic seizures with/without secondary generalization (five patients), status epilepticus (two patients), and epilepsia partialis continua (three patients). Brain MRIs revealed demyelination (1), increased T2 signal intensities in thalamic regions (3) or cortical areas (2), or in dentate nuclei/putamen (2) (Fig. 1), but the initial brain MRI was reported as normal in two of five cases. EEG findings included general slowing with focal temporal and frontal spikes and waves, but none of the patients had occipitally located seizure activity. None of the patients had liver dysfunction at the time of presentation with epilepsy, and four did not develop it even though two were treated with VPA (patients 3 and 4). Patient 1 developed acute fatal liver failure at 4 months of age without previous VPA treatment.
Affiliation: Nuffield Department of Obstetrics and Gynaecology, The Women's Centre, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom.