Clinical correlations of midline spikes in children.

Here we describe the clinical characteristics of children with isolated midline spikes, comparing patients with and without epilepsy, and examining the evolution of midline spikes on repeat EEGs. EEGs and clinical information of 69 patients with isolated midline spikes identified from our EEG database were reviewed. Forty-three patients had a history of seizures. Most patients had complex partial seizures, and had an approximately five times higher chance of having new discharges at other sites on repeat EEGs than the nonepilepsy group (odds ratio=4.95). Most children without epilepsy had developmental delay, attention deficit hyperactivity disorder, and pervasive developmental disorder. Their repeat EEGs showed disappearance or persistence of the midline discharges, with a two times higher probability of normal repeat EEG (58%) than the epilepsy group (24%) (odds ratio=2.40). Isolated midline spikes may represent focal epileptiform activity, but are also found in normal children and in children with developmental and behavioral problems.

Predictive Power of EEG in Infants with Tuberous Sclerosis.

Investigators from University of California- Los Angeles and collaborators from across the country report on the use of prospective EEGs in infants with tuberous sclerosis complex (TSC) to predict evolution to seizures.

KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

OBJECTIVE: To advance the understanding of KCNQ2 encephalopathy genotype-phenotype relationships and to begin to assess the potential of selective KCNQ channel openers as targeted treatments. METHODS: We retrospectively studied 23 patients with KCNQ2 encephalopathy, including 11 treated with ezogabine (EZO). We analyzed the genotype-phenotype relationships in these and 70 previously described patients. RESULTS: The mean seizure onset age was 1.8 ± 1.6 (SD) days. Of the 20 EEGs obtained within a week of birth, 11 showed burst suppression. When new seizure types appeared in infancy (15 patients), the most common were epileptic spasms (n = 8). At last follow-up, seizures persisted in 9 patients. Development was delayed in all, severely in 14. The KCNQ2 variants identified introduced amino acid missense changes or, in one instance, a single residue deletion. They were clustered in 4 protein subdomains predicted to poison tetrameric channel functions. EZO use (assessed by the treating physicians and parents) was associated with improvement in seizures and/or development in 3 of the 4 treated before 6 months of age, and 2 of the 7 treated later; no serious side effects were observed. CONCLUSIONS: KCNQ2 variants cause neonatal-onset epileptic encephalopathy of widely varying severity. Pathogenic variants in epileptic encephalopathy are clustered in "hot spots" known to be critical for channel activity. For variants causing KCNQ2 channel loss of function, EZO appeared well tolerated and potentially beneficial against refractory seizures when started early. Larger, prospective studies are needed to enable better definition of prognostic categories and more robust testing of novel interventions. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that EZO is effective for refractory seizures in patients with epilepsy due to KCNQ2 encephalopathy.

Septo-optic dysplasia complicated by infantile spasms and bilateral choroidal fissure arachnoid cysts.

BACKGROUND AND PURPOSE: septo-optic dysplasia (SOD) is the triad of optic nerve hypoplasia, panhypopituitarism, and agenesis of septum pellucidum, and has been described previously to be associated with heterotopias and midline interhemispheric cyst. We describe a case of SOD with arachnoid cysts, persistent primary hyperplastic vitreous, and malformations of cortical development. METHODS: case report and review of literature. RESULTS: our patient was found to have SOD, bilateral ventriculomegaly, pachygyria, gray matter heterotopia, bilateral choroidal cysts near the brainstem, and persistent primary hyperplastic vitreous. She later developed infantile spasms and required enucleation of the abnormal eye and cyst fenestration. CONCLUSION: coincidence of seizures, SOD, bilateral choroid fissure cysts, heterotopias, and persistent primary hyperplastic vitreous is a unique constellation. It is unclear whether this represents a new syndrome or SOD spectrum variation. Patients with SOD and arachnoid cysts should be monitored for signs of herniation.

Graded response to thymectomy in children with myasthenia gravis.

Response to thymectomy in children with juvenile myasthenia gravis was evaluated using severity and response to therapy rating scales and objective measures of hospital, intensive care, and intubation days, prethymectomy and postthymectomy, as markers of morbidity. Records of 50 patients treated for myasthenia gravis at Children's Memorial Hospital, Chicago, were reviewed. Thymectomy was performed in 13 patients; average age was 10 years. Days of intubation, intensive care, and hospitalization were significantly less postthymectomy compared to prethymectomy (P < .0001). Osserman rankings postthymectomy were mild (IIa) in 1, moderate (IIb) in 4, and severe (III) in 1. On a response to therapy scale, 4 patients were grade A (complete remission, no medication); 3 were grade B (improvement, lower drug dosage); 3 were grade C (slight improvement and no change in medication); and 3 were grade D (unchanged). Thymectomy is an effective treatment in 62% of children with myasthenia gravis, and remission is complete in 31%.