[The risk of second seizure in children with benign childhood epilepsy with centrotemporal spikes without treatment--a prospective study]. / Rizik javljanja drugog napadaja u nelijecene djece s benignom parcijalnom epilepsijom s centrotemporalnim siljcima--prospektivno istrazivanje.

PURPOSE: To determine the rate of second seizure occurrence within and after six months of the first seizure in children with benign childhood epilepsy with centrotemporal spikes (BECTS) who did not undergo treatment after the first seizure. The results of this analysis may help elucidate the dilemma whether or not to treat the child after the first seizure. PATIENTS AND METHODS: Thirty-nine children with BECTS from our department (aged 3-11 years) were analyzed as candidates to be enrolled in a prospective multicenter randomized double-blind placebo controlled study on therapeutic efficacy of sulthiame. Thirty-four of 39 children were not treated after the first seizure. Four children were lost from the study, thus 30 children were included in final analysis. After the first seizure, the parents were instructed to apply diazepam rectal solution in case of second seizure, and were warned to observe the child, particularly during the first sleep and before awaking. RESULTS: Twenty of 30 (66.6%) children experienced second seizure within six months of the first one. Some of these children entered the group treated with sulthiame vs. placebo, and those who did not meet the criteria for sulthiame group were treated with carbamazepine. Ten of 30 (33.4%) children did not experience second seizure within six months of the first one. In only one of them, the second seizure occurred 14 months of the first one. The epileptic status did not appear as second seizure, irrespective of whether or not the children received rectal diazepam at seizure onset. CONCLUSIONS: In children with BECTS, a high incidence of second seizure was recorded within six months of the first seizure, whereas the rate of second seizure after six months of the first one was very low. The probability of the occurrence of epileptic status in children with BECTS could be neglected. These results may be viewed as a small contribution to clarifying the dilemma of whether or not, and when to treat children with BECTS. Because of the high incidence of second seizure, we decided to treat all children with BECTS after the first seizure.

R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis.

Clinical picture of neuronal ceroid lipofuscinosis with late infantile onset (LINCL) is characterized by myoclonic seizures and psychomotor regression. We present a case of classic LINCL and reduced cerebrospinal fluid (CSF) pterins in a girl of normal psychomotor development and born to non-consanguineous parents. She first presented with febrile seizures at the age of four. At that time, brain computed tomography finding was normal, but electroencephalogram showed hypsarrhythmia. At the age of five, tremor, generalized ataxia, and motor and mental regression appeared. Brain magnetic resonance imaging showed cerebellar atrophy. Electron microscopy examination showed storage of intracytoplasmic curvilinear inclusions in neurons, fibroblasts, and secretory cells of the skin and rectal mucosa. Tripeptidyl peptidase I (TPP-I) activity in leukocytes was very low (5.4 nmol/h/mg protein; range in homozygote cases of LINCL, 0.4-26.0). Molecular genetic studies showed a homozygous mutation, R208X, in exon 6 of CLN2 gene. CSF analysis revealed very low neopterin (7.3 nmol/L; normal range, 9-30) and biopterin (4.1 nmol/L; normal range, 10-30), reduced homovanillic acid (266 nmol/L; normal range, 211-871), and low homovanillic acid/5-hydroxyindoleacetic acid ratio (1.21; normal ratio, 1.5-3.5). Treatment with L-Dopa/Carbidopa (4 mg/kg) and antiepileptics was introduced, but without significant effect. It seems that low CSF pterins and impaired dopamine turnover are secondary manifestations of classical LINCL caused by homozygous inheritance of the R208X mutation in CLN2 gene.