Risk of Developing Seizures in Children With Abnormal EEG Findings During Polysomnography.

BACKGROUND: Polysomnography (PSG) utilizes abbreviated electroencephalogram (EEG) to stage sleep. The aim of this study was to determine whether epileptiform abnormalities on this limited EEG coverage correlated with abnormalities on routine EEG (rEEG) and an increased risk for seizures in children without a prior diagnosis of epilepsy. METHODS: A six-year retrospective chart review was performed assessing children with abnormalities on EEG during PSG. Children who underwent subsequent rEEG were included; children with a prior diagnosis of seizures were excluded. The main outcome measures were rEEG results and subsequent diagnosis of epilepsy. RESULTS: A total of 67 children met inclusion criteria. Average age was six years, and 43 (64%) were male. rEEG was normal in 16 (24%). Epileptiform abnormalities were focal in 36 (54%), generalized in eight (12%), and mixed in five (8%). An additional two (3%) had slow background rhythm without epileptiform discharges. Thirty-one patients had neurology clinic follow-up with an average duration of 31 months (range 4 to 65 months). Of these, nine (29%) developed seizures, including all three with generalized epileptiform discharges, four of 19 (21%) with focal epileptiform discharges, and two of five (40%) with mixed epileptiform discharges or background slowing. None of the four patients with a normal rEEG had seizures. Eight of the nine patients with seizures were treated with antiepileptic drugs. CONCLUSIONS: Children with no history of seizures found to have abnormal EEG during PSG are likely to have an abnormal rEEG. Additionally, they have an increased risk for developing seizures.

A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2.

BACKGROUND: The Xq22.2 q23 is a complex genomic region which includes the genes MID2 and PLP1 associated with FG syndrome 5 and Pelizaeus-Merzbacher disease, respectively. There is limited information regarding the clinical outcomes observed in patients with deletions within this region. METHODS: We report on a male infant with intrauterine growth retardation (IUGR) who developed head titubation and spasticity during his postnatal hospital course. RESULTS: Chromosome microarray revealed a 6.7 Mb interstitial duplication of Xq22.2q22.3. Fluorescence in situ hybridization showed that the patient's mother also possessed the identical duplication in the Xq22.3q22.3 region. Among the 34 OMIM genes in this interval, the duplication of the PLP1 (OMIM# 300401) and MID2 (OMIM# 300204) appears to be the most significant contributors to the patient's clinical features. Mutations and duplications of PLP1 are associated with X-linked recessive Pelizaeus-Merzbacher disease (PMD). A single case of a Xq22.3 duplication including the MID2 has been reported in boy with features of FG syndrome. However, our patient's clinical features are not consistent with the FG syndrome phenotype. CONCLUSION: Our patient's clinical features appear to be influenced by the PLP1 duplication but the clinical effect of other dosage sensitive genes influencing brain development cannot be ruled out.

Paroxysmal Dyskinesias.

Paroxysmal dyskinesias (PD) are hyperkinetic movement disorders where patients usually retain consciousness. Paroxysmal dyskinesias can be kinesigenic (PKD), nonkinesigenic (PNKD), and exercise induced (PED). These are usually differentiated from each other based on their phenotypic and genotypic characteristics. Genetic causes of PD are continuing to be discovered. Genes found to be involved in the pathogenesis of PD include MR-1, PRRT2, SLC2A1, and KCNMA1. The differential diagnosis is broad as PDs can mimic psychogenic events, seizure, or other movement disorders. This review also includes secondary causes of PDs, which can range from infections, metabolic, structural malformations to malignancies. Treatment is usually based on the correct identification of type of PD. PKD responds well to antiepileptic medications, whereas PNKD and PED respond to avoidance of triggers and exercise, respectively. In this article, we review the classification, clinical features, genetics, differential diagnosis, and management of PD.