Oxcarbazepine and atypical evolution of benign idiopathic focal epilepsy of childhood.

Patients that have benign epilepsy with centrotemporal spikes (BECTS) may occasionally experience an atypical development in their course when treated with drugs such as carbamazepine. Three patients with electroclinical patterns consistent with BECTS showed seizure exacerbation during oxacarbazepine (OXC) therapy. Two manifested atypical absences, neuropsychological disturbances, and generalized spike-and-wave discharges in their electroencephalograms (EEGs) that became continuous during sleep. The third patient showed, during OXC therapy, more frequent partial motor seizures which ended with ictal vomiting and post-ictal obnubilation. EEGs recorded during sleep showed discontinuous paroxysmal activity in the right centrotemporal area. Symptoms were reversed following discontinuation of the OXC therapy. Although electroclinical findings were consistent with a BECTS diagnosis, all patients had some atypical features. Our observations show that BECTS patients, in particular those presenting with atypical findings, might be at risk for developing paradoxical reactions to OXC therapy. We suggest that OXC should be included in the list of drugs that may cause electroclinical deterioration in these patients.

Occipital intermittent rhythmic delta activity only following eye closure in atypical CNS Salmonellosis.

OBJECTIVE: A statement recently published on the base of a large retrospective analysis, report that the occipital intermittent rhythmic delta activity (OIRDA) "is associated with epilepsy but not acute encephalopathy" [Gullapalli and Fountain. J Clin Neurophysiol 2003;20:35-41]. Our aim is to report, the exception from a child with an intermittent fever, in which the finding of an occipital intermittent rhythmic delta activity (OIRDA) following the eye closure in the EEG recording was the first clinical sign addressing to a CNS involvement. METHODS: To review the record from a five-year-old girl with a normal basal electroencephalogram and OIRDA that only appeared following eye closure. RESULTS: We found OIRDA associated with atypical CNS Salmonellosis. Brain MRI and CSF examination confirmed an acute encephalopathy, which was due to Salmonella infection. The only symptoms of the infection were episodes of nightly fever that had lasted for four weeks, sometimes associated with headache and vomiting. Both OIRDA only induced by eye closing and other symptoms disappeared after starting antimicrobial therapy. CONCLUSIONS: OIRDA only following eye closure is a non-specific abnormality and the present findings, based on a single case, merely indicate that intracranial infection is among the possible causes. SIGNIFICANCE: The new clinical association is certainly worth recording, as the presence of this electrophysiological sign may provoke clinicians to then delve further into a diagnostic work up.

Efficacy and safety of topiramate in infants according to epilepsy syndromes.

Studies of the efficacy of topiramate (TPM) in infants and young children are few. Here we report an open, prospective, and pragmatic study of effectiveness of TPM in terms of epilepsy syndromes, in children aged less than 2 years. The median follow-up period was 11 months. We enrolled 59 children in the study: 22 affected by localization-related epilepsy (LRE), 23 by generalized epilepsy, six by Dravet's syndrome, and eight with unclassifiable epilepsy. TPM was effective (responders showed a decrease of more than 50% in seizure frequency) in 47% of patients, including 13% who were seizure-free at the last visit. TPM was more effective in localization-related epilepsy (48% of responders) than in generalized epilepsy (32% of responders). In the latter group, 19 patients suffered from infantile spasms. Four of six patients with cryptogenic infantile spasms became seizure-free. Of the 13 patients with symptomatic infantile spasms, only one was seizure-free. Results were poor for patients with Dravet's syndrome. In general, TPM was well tolerated. The most frequently reported adverse effects were drowsiness, irritability, hyperthermia, and anorexia. The present study concludes that TPM is effective for a broad range of seizures in infants and young children and represents a valid therapeutic option in this population.

Chromosome 18 aberrations and epilepsy: a review.

Epilepsy is commonly observed in patients with chromosomal aberrations. We evaluated epilepsy and electroencephalographic (EEG) features in a group of patients carrying aberrations of chromosome 18. Fourteen patients were recruited: five with an 18p deletion syndrome (18pDS); six with an 18q deletion syndrome (18qDS); two with trisomy 18p syndrome; and one with a 45,XY,t(17-18) (cen-q11.2) karyotype. Patients with 18pDS had neither epilepsy nor EEG anomalies; four patients with 18qDS had epilepsy with partial seizures occurring during infancy or early childhood. Partial seizures were also present in both patients with trisomy 18p. By contrast, mixed seizures were observed in the patient carrying a translocation between chromosomes 17 and 18. Our data and a re-evaluation of the literature suggest that epilepsy is infrequent in patients with 18pDS. Conversely, partial seizures and focal EEG anomalies may be observed in those with patients with 18qDS. Our observations suggest that the haplo-insufficiency of genes located on the long arm of chromosome 18 is more likely to be associated with epilepsy, than is haplo-insufficiency of genes located on the short arm. While further EEG/clinical investigations are needed to validate these observations, this study indicates a possible relationship between chromosome 18 genes and epilepsy.

Atypical BECTS and homocystinuria.

Reported is an association of atypical benign childhood epilepsy with centrotemporal spikes (BECTS) and homocystinuria in three apparently healthy children with borderline intelligence, two of whom had difficult-to-control seizures. In all three, EEG were suggestive of BECTS, although the clinical features were not. Homocystinuria could not be diagnosed for several years, pending metabolic evaluation.

18q-syndrome and ectodermal dysplasia syndrome: description of a child and his family.

The 18q- syndrome [MIM #601808] is a terminal deletion of the long arm of chromosome 18. The most common deletion extends from region q21 to qter. We report here a nine-year-old boy possessing a simple 18q- deletion who had abnormalities of the brain, skull, face, tooth, hair, bone, and skin, plus joint laxity, tongue palsy, subtle sensoneural deafness, mental and speech delay, attention deficit hyperactivity disorder (ADHD), tic, and restless legs syndromes. His karyotype was 46, XY, del (18)(q21.31-qter). The size of the deletion was approximately 45 cM. Most of these abnormalities were not explained by the 18q- deletion. The family pedigree suggested the presence of a subtle involvement of ectodermal and/or mesodermal structures. Karyotypes of the other family members were normal.

Association of Chiari I malformation, mental retardation, speech delay, and epilepsy: a specific disorder?

OBJECTIVE: The Chiari I malformation is defined as tonsillar herniation of at least 3 to 5 mm below the foramen magnum. Although Chiari I malformation is considered to derive from a mesodermal disorder resulting in underdevelopment of the posterior fossa relative to its content, evidence for a possible heterogeneous etiology also has been reported. The aim of the present study is to elucidate the relationship between Chiari I malformation and mental retardation, speech delay, and epilepsy to consider a possible specific pathogenetic background. METHODS: Thirty-five patients with Chiari I malformations were identified by use of magnetic resonance imaging during a period between 1993 and 1999. The study consisted of nine patients (four boys and five girls) who were affected by mental retardation, speech delay, and epilepsy. All patients underwent electroencephalography and brain and cervical spine magnetic resonance imaging. RESULTS: All patients were mentally retarded with a mean intelligence quotient of 50. Seven patients had a positive history for speech delay, and five were epileptic. Electroencephalograms demonstrated abnormalities in seven patients. The mean tonsillar displacement was 10.1 mm. A thin corpus callosum and a wide cavum septum pellucidum were present in three patients. Neither hydromyelia nor scoliosis was observed. No correlation between the degree of the ectopia and clinical manifestation was noted. CONCLUSION: The association of Chiari I malformation with epilepsy, speech delay, and mental retardation may not be a mere incidental finding but may be a marker for a different pathogenetic background.

Cerebral glucose metabolism in neurofibromatosis type 1 assessed with [18F]-2-fluoro-2-deoxy-D-glucose and PET.

Cerebral PET with [18F]-2-fluoro-2-deoxy-D-glucose has been performed in four patients with neurofibromatosis type 1 (NF1) to assess the relation between cerebral metabolic activity, MRI, and the presence of neurological symptoms, including seizures, as well as mental and language retardation. Widespread hypometabolism occurred in three of the patients. The lesions on MRI, which were localised in the subcortical white matter and grey structures, had normal rates of glucose metabolism. This finding suggests that the abnormalities seen on MRI are not due to defective blood supply, localised oedema, or grey matter heterotopic foci as previously hypothesised. The presence of the hypometabolic areas seems to be inconsistently related to the occurrence of seizures and is not proportional to the degree of mental impairment. This study provides evidence of a widespread cerebral hypometabolism that is not related to the presence of MRI abnormalities; conversely normal metabolism was present in the areas with an abnormal MRI signal.

Celiac disease and epilepsy in pediatric patients.

Among 783 patients referred to our institute with different types of seizures as presenting symptom, systematic evaluation of antigliadin and antiendomysial antibodies in the serum has identified nine in whom jejunal biopsy has subsequently confirmed the diagnosis of celiac disease (CD). In three of them brain imaging showed the presence of calcified areas in the occipital region. They had complex partial seizures (CPS), associated in two with transient episodes of blindness. In another patient with CPS and generalized tonic-clonic seizures (GTCS) progressive multifocal cerebral calcifications were noted. In the other six patients with CPS and/or GTCS cerebral calcifications were absent. Symptoms of CD in all these cases were either not previously taken into account, or they were very mild or completely absent. In a group of 36 patients with clinically manifest CD, regular follow-up, and good compliance with the dietary regimen, no clinical seizures were reported. The pathogenetic mechanism and the relationship between epilepsy and an early diagnosis and treatment of celiac disease are discussed.

Vigabatrin treatment in children.

Sixty-nine children, aged from 2 months to 16 years and suffering from different types of drug-resistant epileptic seizures, mostly complex partial and secondary generalised, were recruited in an open, uncontrolled, prospective study of treatment with vigabatrin (gamma-vinyl GABA). Following a 3-month baseline observation period, the initial dose of vigabatrin of 10 mg/kg per day was progressively increased up to a maximum of 140 mg/kg per day, in addition to the conventional concomitant therapy. Sixteen patients showed a > or = 50% reduction in seizure frequency compared with the baseline, with complete control of seizures in nine cases. In 14 other patients, no substantial change in seizure frequency was observed, although an improvement in psychological performance after vigabatrin treatment warranted further continuation of the drug. In 35 patients vigabatrin was discontinued because of lack of efficacy (22 cases) and/or increased seizure frequency (13 cases). The clinical and biological tolerance of vigabatrin was remarkably good.

Progressive cerebral calcifications, epilepsy, and celiac disease.

A case with progressive cerebral calcifications, white matter involvement, and drug-resistant epilepsy in a 9-year-old boy is described. The final diagnosis was celiac disease (CD). The relationship of CD with epileptogenic lesions is considered, and the possible significance of this association is discussed.