Probability of Remission of the Main Epileptic Syndromes in Childhood.

AIM: To determine the long-term probability of remission without antiepileptic treatment of common epileptic syndromes and of children without a specific syndromic diagnosis. PATIENTS AND METHODS: All children less than 14 years old with 2 or more unprovoked seizures seen at our hospital between June 1, 1994, and March 1, 2011 (n = 680), were included and prospectively followed up until August 15, 2020. Syndromic diagnosis was made retrospectively but blinded to subsequent evolution, employing the data available at 6 months after diagnosis and under predefined operational criteria. RESULTS: The Kaplan-Meier estimate of the probability of achieving a remission period of at least 5 years, with neither seizures nor antiepileptic treatment at 14 years was 97% for well-defined childhood epilepsy with centrotemporal spikes, 82% for uncertain childhood epilepsy with centrotemporal spikes, 85% for well-defined Panayiotopoulos syndrome, 88% for uncertain Panayiotopoulos syndrome, 93% for nonfamilial self-limited infantile epilepsy, 100% for familial self-limited infantile epilepsy, 86% for absence epilepsy, 6% for juvenile myoclonic epilepsy, 71% for cryptogenic West syndrome, 72% for patients with no associated neurologic deficits and no specific syndromic diagnosis, 65% for symptomatic West syndrome, and 40% for patients with associated neurologic deficits and no specific syndromic diagnosis. CONCLUSIONS: The study results highlight the long-term outcomes of the main epileptic syndromes and also of the patients with no syndromic diagnosis.

Infant botulism in Andalusia (Southern Spain).

BACKGROUND: Infant botulism (IB) is caused by the intestinal colonization by Clostridium botulinum in the first year of life and its subsequent production of neurotoxins. Traditionally, IB has been associated to honey consumption. IB cases tend to cluster in geographic regions. In Europe, IB is a rare disorder. From 1976 through 2006, 65 cases were identified in 13 European countries. In Spain, in the last 15 years, most of the cases have been reported in one region, Andalusia (Southern Spain). A specific treatment for IB type A and type B (BabyBIG) is available outside of the United States since 2005. METHODS: and aims: We performed a retrospective review of IB cases detected in Andalusia since 1997 and compare them with the cases of IB reported in Europe. RESULTS: We identified 11 confirmed cases of IB in Andalusia since 1997, and 14 cases in Spain. Nine out of 11 cases were detected since 2007; none of these infants had been exposed to honey consumption. One case in 1997 and another in 2000 were associated to honey. Two cases were treated with BabyBIG in 2007. In the period 2006-2012 the cases of IB reported in Europe were 54. CONCLUSIONS: We identified a considerable increase in the incidence of IB since 2006. A tendency to a reduction in the number of cases of IB linked to honey consumption has also been identified. An increase in the exposure to these bacteria from the environment could be presumed. Clinicians should maintain a high index of suspicion for this treatable disorder.

Vanishing white matter disease in a spanish population.

Vanishing white matter (VWM) leukoencephalopathy is one of the most prevalent hereditary white matter diseases. It has been associated with mutations in genes encoding eukaryotic translation initiation factor (eIF2B). We have compiled a list of all the patients diagnosed with VWM in Spain; we found 21 children. The first clinical manifestation in all of them was spasticity, with severe ataxia in six patients, hemiparesis in one child, and dystonic movements in another. They suffered from progressive cognitive deterioration and nine of them had epilepsy too. In four children, we observed optic atrophy and three also had progressive macrocephaly, which is not common in VWM disease. The first two cases were diagnosed before the 1980s. Therefore, they were diagnosed by necropsy studies. The last 16 patients were diagnosed according to genetics: we found mutations in the genes eIF2B5 (13 cases), eIF2B3 (2 cases), and eIF2B4 (1 case). In our report, the second mutation in frequency was c.318A>T; patients with this mutation all followed a slow chronic course, both in homozygous and heterozygous states. Previously, there were no other reports to confirm this fact. We also found some mutations not described in previous reports: c.1090C>T in eIF2B4, c.314A>G in eIF2B5, and c.877C>T in eIF2B5.

A study of drug-resistant childhood epilepsy testing the new ILAE criteria.

PURPOSE: To test the new ILAE definition of drug-resistant epilepsy in a cohort study. METHODS: All children younger than 14 with two or more unprovoked seizures observed at our hospital between 1994 and 2008 were included. RESULTS: Five hundred and eight patients were followed for an average of 90 months (range 24-168). The probabilities of achieving seizure freedom, according to the ILAE criteria, with the first, second, third and fourth and subsequent therapeutic regimens were 65%, 29%, 27% and 21%, respectively. In the cohort, 87 patients met the criteria for drug-resistant epilepsy, which represents 19% of the treated patients (n=459) and 17% of the overall sample. The probability of meeting the criteria for drug-resistant epilepsy was 11%, 11% and 13% at 2, 6 and 10 years respectively. Sixty two percent of drug resistant cases were younger than 4 years old, 73% had an associated developmental delay and/or motor deficit, 42% had an identifiable structural cause of epilepsy and 32% had a specific epileptic syndrome. For drug-resistant patients who tried additional therapeutic regimens, the probability of achieving a seizure-free state without further recurrences was 23% and 27% at three and five years, respectively. CONCLUSIONS: Compared with more stringent criteria, the new ILAE criteria classify a greater number of patients with drug-resistant epilepsy. A significantly higher proportion of cases meeting this definition subsequently enter remission. A definition of drug-resistance that includes the additional criteria of failure of a third antiepileptic drug or high seizure frequency may better identify patients with truly drug-resistant epilepsy.