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The article describes the case of a 13-year-old female with chronic medical history of presumed Rett syndrome (RTT) based on developmental regression and behavioral observation, microcephaly, seizure disorder, and gastrostomy tube dependence. Topics discussed include findings on medical examination of the patient, clinical characteristics of Rett syndrome, and differential diagnosis, workup, and outcomes of therapeutic interventions trialed for patient's agitation.

Sudden death is over 20 times more frequent in people with epilepsy than the general population. The literature on clinical risk factors is now able to define individuals at the highest risk. Despite these advances in our understanding of risk, the mechanism of sudden unexpected death in epilepsy remains elusive. While it is unlikely that a single mechanism will be found to explain all deaths, there have been recent advances that identify factors that play a critical role. This review provides an update on new advances in the understanding of sudden unexpected death in epilepsy. [ABSTRACT FROM AUTHOR]

Neonatal seizures associated with white-matter changes on neuroimaging suggest an etiology of hypoxic-ischemic encephalopathy. Metabolic and idiopathic etiologies are also considerations but are less likely. Despite the fact that two disorders associated with neonatal seizures are diagnosed by cerebrospinal fluid neurotransmitter analysis, such an analysis is not standard in the workup for idiopathic neonatal seizures. We describe an infant who had a prolonged delivery, seizures on the first day of life, and white-matter changes on neuroimaging. A progressive seizure disorder that was refractory to standard antiepilepsy medications developed at 2 months of age. Analysis of cerebrospinal fluid neurotransmitters at that time demonstrated a pattern consistent with folinic acid-responsive seizures. Seizures ceased 24 hours after starting folinic acid. Serial neuroimaging, electroencephalograms, and metabolic changes from this patient are presented. This case illustrates the importance of cerebrospinal fluid neurotransmitter analysis as part of the work-up for idiopathic neonatal seizures. (J Child Neurol 2003;18:562-569). [ABSTRACT FROM AUTHOR]

Objectives: The objectives were to investigate the relationship between ketogenic diet therapy and neutropenia in children with epilepsy. Methods: A retrospective chart review of children who initiated ketogenic diet at the Hospital for Sick Children between January 1, 2000, and May 1, 2018 was performed. Factors associated with the development of neutropenia during ketogenic diet therapy were evaluated and the relationship between development of a significant or suspected infection and neutrophil count was analyzed. Results: One hundred two children met inclusion criteria and were followed on the diet for up to 24 months. Thirteen of 102 (13%) children were neutropenic at diet initiation. In the remaining 89 children, 27 developed neutropenia. Developing neutropenia was significantly associated with the ketogenic diet at 6 (13%), 12 (23%), and 24 (25%) months follow-up. Developing neutropenia was associated with higher urinary ketones (OR = 4.26, 95% CI: 1.27, 14.15) and longer duration of ketogenic diet therapy (OR = 3.29, 95% CI: 1.42, 7.96). There was no significant association between development of a clinically significant infection and neutropenia. Conclusion: Ketogenic diet therapy is associated with neutropenia in children with epilepsy, however, it does not have a significant clinical impact. Concern regarding neutropenia should not discourage the use of the ketogenic diet in children. [ABSTRACT FROM AUTHOR]

This report describes a case of Hashimoto encephalopathy in an 11-year-old girl. She presented with features typical of this disorder including encephalopathy, seizures, and neuropsychiatric symptoms. Diagnosis was supported by an elevated thyroid-stimulating hormone level, a low levothyroxine level, and positive results for antithyroperoxidase antibody. Her response to typical treatment with levo-thyroxine was incomplete, requiring additional therapy with valproic acid and methylprednisone. Her course was further complicated by the development of acute psychosis. Treatment with risperidone was correlated with resolution of her psychosis and improvement in neuropsychiatric symptoms. Response to antipsychotic therapy has not previously been described in the pediatric population with Hashimoto encephalopathy. This case highlights the need for guidelines for the management of this rare disorder. [ABSTRACT FROM AUTHOR]

Children and adults with genetic generalized epilepsy may have focal clinical seizure symptoms as well as electroencephalographic (EEG) findings. This may pose a diagnostic challenge to clinicians, especially when concomitant focal neuroimaging findings exist and the epilepsy is medically refractory. We sought to highlight the challenges that clinicians may face through the description of 2 children with suspected genetic generalized epilepsy who had both focal seizure symptoms and EEG/neuroimaging findings and underwent invasive EEG monitoring. Ultimately, invasive monitoring failed to demonstrate a focal origin for the seizures in both cases, and instead confirmed the presence of genetic generalized epilepsy. We demonstrate that ≥3-Hz generalized monomorphic spike and waves are less likely to represent secondary bilateral synchrony, that focal neuroimaging findings may not always be causal and that repeated hyperventilation is an essential activation procedure for genetic generalized epilepsy. [ABSTRACT FROM AUTHOR]

Objective: To determine the incidence rates of sudden unexpected death in epilepsy (SUDEP) in different epilepsy populations and address the question of whether risk factors for SUDEP have been identified. Methods: Systematic review of evidence; modified Grading Recommendations Assessment, Development and Evaluation process for developing conclusions; recommendations developed by consensus. Results: Findings for incidence rates based on 12 Class I studies include the following: SUDEP risk in children with epilepsy (aged 0-17 years) is 0.22/1,000 patient-years (95% CI 0.16-0.31) (high confidence in evidence). SUDEP risk increases in adults to 1.2/1,000 patient-years (95% CI 0.64-2.32) (low confidence in evidence). The major risk factor for SUDEP is the occurrence of generalized tonic-clonic seizures (GTCS); the SUDEP risk increases in association with increasing frequency of GTCS occurrence (high confidence in evidence). Recommendations: Level B: Clinicians caring for young children with epilepsy should inform parents/guardians that in 1 year, SUDEP typically affects 1 in 4,500 children; therefore, 4,499 of 4,500 children will not be affected. Clinicians should inform adult patients with epilepsy that SUDEP typically affects 1 in 1,000 adults with epilepsy per year; therefore, annually 999 of 1,000 adults will not be affected. For persons with epilepsy who continue to experience GTCS, clinicians should continue to actively manage epilepsy therapies to reduce seizures and SUDEP risk while incorporating patient preferences and weighing the risks and benefits of any new approach. Clinicians should inform persons with epilepsy that seizure freedom, particularly freedom from GTCS, is strongly associated with decreased SUDEP risk. [ABSTRACT FROM AUTHOR]

Pyridoxine-dependent epilepsy is an autosomal recessively inherited disorder of lysine catabolism caused by mutations in the ALDH7A1 gene. We report 2 patients with normal neurocognitive outcome (full-scale IQ of 108 and 74) and their more than 10 years’ treatment outcome on pyridoxine monotherapy. Both patients had specific borderline impairments in visual processing speed. More long-term treatment outcome reports will increase our knowledge about the natural history of the disease. [ABSTRACT FROM PUBLISHER]

The very-high-fat ketogenic diet can worsen lipid levels in children with pre-existing hyperlipidemia by increasing serum lipoproteins and reducing antiatherogenic high-density lipoproteins. A retrospective chart review of 160 children treated with the ketogenic diet from September 2000 to May 2011 was performed. Twelve children with pre-existing hyperlipidemia were identified. Lipid levels including total cholesterol, low-density lipoprotein, triglycerides, high-density lipoprotein, and total cholesterol/high-density lipoprotein were measured pre-diet and at 3, 6, and 12 months of treatment. During treatment, there was a significant reduction in mean total cholesterol, low-density lipoprotein, and total cholesterol/high-density lipoprotein. Total cholesterol and low-density lipoprotein were normalized in 8 and 7 children at 6 months; and 9 and 9 children at 12 months respectively. At 6 and 12 months, tot cholesterol/HDL ratio was normalized in 5 and 7 children respectively. Diet modifications were made to achieve healthy lipid levels. By extrapolating the data, it suggests lipid levels can be controlled in children and adults with ketogenic diet treatment. [ABSTRACT FROM AUTHOR]

A previously healthy 10-year-old boy developed generalized convulsive status epilepticus following a mild febrile illness. Prolonged video-electrocncephalographic monitoring revealed frequent right hemispheric electrographic seizures that were refractory to high-dose suppressive therapy. Ictal and interictal magnetoencephalography demonstrated dipole sources projecting from the right mesial temporal region. Diffusion-weighted imaging showed restricted diffusion involving the right hippocampus. Right anterior temporal lobectomy resulted in cessation of status epilepticus. At 1-year follow-up, he attends regular school and has infrequent nocturnal seizures on chronic antiepileptic drug therapy. Surgical treatment should be considered to stop status epilepticus in selected cases of acute symptomatic refractory status epilepticus with no preexisting epilepsy or magnetic resonance imaging abnormalities and may avoid the complications associated with prolonged high-dose suppressive therapy. [ABSTRACT FROM AUTHOR]