Epilepsy in patients with pervasive developmental disorder not otherwise specified.

Data on epilepsy in pervasive developmental disorder not otherwise specified are few and scanty. Seventy-seven patients with pervasive developmental disorder not otherwise specified were compared with 77 with autistic disorder, matched for age and sex. The 2 groups were divided into 3 subgroups each: A, without electroencephalography (EEG) paroxysmal abnormalities or epilepsy; B, with EEG paroxysmal abnormalities without epilepsy; and C, with epilepsy.

Epilepsy in chromosomal abnormalities: an Italian sample.

Epilepsy is common in chromosomal abnormalities, but systematic studies are scanty. We describe an Italian sample of patients with chromosomopathies to establish epilepsy occurrence and clinical electroencephalographic (EEG) features. Forty-five patients with different types of chromosomal abnormalities were analyzed to examine different variables in patients with epilepsy (group 1) and without (group 2) and to compare the types of epilepsy in our cases with respect to a nonselected sample of Italian people with epilepsy.

Unusual side-effects due to clobazam: a case report with genetic study of CYP2C19.

We describe the case of a 10-year-old girl with two epileptic seizures and subcontinuous spike-waves during sleep, who presented unusual side-effects related to clobazam (CLB) monotherapy. High plasma levels of N-desmethyl-clobazam (N-CLB), the major metabolite of CLB were detected. The patient and her parents underwent molecular analysis of the CYP2C19 gene, which may be implicated in the metabolism of this drug.

Epilepsy, intelligence, and psychiatric disorders in patients with cerebellar hypoplasia.

The cerebellum is involved in motor and cognitive functions and behavior. Its role in controlling epileptic seizures has been demonstrated in the literature. Genetic factors can enhance epilepsy susceptibility when the cerebellum is damaged.

Autism, macrocrania and epilepsy: how are they linked?

To evaluate the possible association of autistic disorder (AD), macrocrania and epilepsy, we performed a retrospective study comparing epileptic and non-epileptic AD patients with macrocrania, and AD patients with macrocrania to age- and sex-matched AD controls without macrocrania. We found macrocrania in 17.3% of 121 patients with AD.

Epilepsy in adolescents and young adults with autistic disorder.

Since the first description by Kanner (1943) the association between autistic disorder (AD) and epilepsy has been observed in 4-42% of patients. Some authors reported that seizures prevailed in adolescence but a systematic investigation has never been undertaken. We examined retrospectively 60 patients divided into two groups (with and without epilepsy and EEG paroxysmal abnormalities) with AD unrelated to a congenital or acquired encephalopathy (mean age 17 years 2 months).

Complex brain malformation and drug resistant epilepsy.

A 6-year-old girl presented with severe epileptic encephalopathy and delayed psychomotor development. MRI was normal but during the clinical course disclosed a complex brain malformation involving the gray and white matter. Clinical and brain imaging data are discussed in light of relevant reports in the literature.

Band heterotopia: correlation of outcome with magnetic resonance imaging parameters.

The "band heterotopia" or "double cortex" is a brain anomaly that is presumed to result from a premature arrest of neuronal migration. Patients with this anomaly are reported to have a variable clinical course that has been, heretofore, unpredictable. The clinical records and magnetic resonance (MR) imaging studies of 27 patients with band heterotopia were retrospectively reviewed in an attempt to determine whether imaging findings are useful in predicting clinical outcome of affected patients.

Dystonic attacks related to sleep and exercise.

Two unrelated children displayed attacks of paroxysmal jerky 'puppet-like' movements lasting 2-3 min. The attacks were not kinesigenic and occurred during wakefulness precipitated by physical exercise and during NREM sleep, spontaneous or upon arousal and awakenings. Paroxysmal dystonic choreoathetosis was excluded by the absent family history, and paroxysmal kinesigenic dystonia by the absence of triggering effects by sudden movements and efficacy of anticonvulsants.

Periodic spasms: an unclassified type of epileptic seizure in childhood.

Seven boys aged between 14 months and 13 years with focal or multifocal partial epilepsy had very unusual seizures, characterized by series of periodic bilateral spasms. These consisted of a brief, complex movement of slight to severe intensity, mainly involving the axial muscles, with raising of the shoulders, adversion of the eyes and head, often with rictus-type facial grimaces and occasional stretching of the legs and emission of a guttural sound. The ictal EEG showed a pattern of periodic complexes, characterized by a slow wave with superimposed fast activity.

Predictive factors of seizure frequency and duration of antiepileptic treatment in rolandic epilepsy: a retrospective study.

Factors useful to predict seizure frequency and duration of antiepileptic treatment of children with benign partial epilepsy and rolandic spikes were retrospectively evaluated in 72 patients seizure-free for at least 5 years and off antiepileptic drugs for at least 2 years. Three groups were considered: Group I, 11 patients (15%) with a single seizure: Group II, 40 patients (56%) with 2 to 6 seizures; Group III, 21 patients (29%) with over 6 seizures. Significant predictors of rare seizure frequency were: presence of convulsive generalized seizures as the sole ictal manifestation, found in 17 patients of Group II and in one patient of Group III (p less than 0.

The effect of intravenous L-5-HTP in the myoclonic encephalopathy of infants.

A 7 year old girl suffering from myoclonic encephalopathy of infants (MEI) underwent acute treatment by slow intravenous L-5-hydroxytrypthophan (L-5-HTP). The authors found a clear clinical physiological improvement of myoclonic symptoms at rest and during action, but the opsoclonus remained unchanged. The authors suggest that, at least in this case of MEI, the myoclonus was serotonin responsive, as already reported in action or intention and stimulus sensitive myoclonus.

[Case of epilepsy in an infant with fatal outcome during the 1st year of unknown etiology].

An 11-month-old infant, full-term born after normal pregnancy and delivery had a generalized short tonic-clonic seizure at the 7th hour of life. These seizures were repeated on the 7th, 8th, 9th and 22nd days, and they persisted like bilateral myoclonic fits once a week. The EEG recordings showed asynchronous spikes and spike-waves on the vertex and both frontal areas.

Pyruvate-dehydrogenase complex in ataxic patients: enzyme deficiency in ataxic encephalopathy plus lactic acidosis and normal activity in Friedreich ataxia.

Pyruvate dehydrogenase complex (PDHC) activity was measured in cultured fibroblasts from 12 patients with Friedreich's ataxia (FA), and in 1 patient with lactic acidosis and ataxia. The activities obtained after extraction of PDHC by different methods were compared. Triton-X-100 extraction yielded enzyme activities 5 to 10 times greater than those obtained with the older methods.

[Juvenile myasthenia gravis of possible post-vaccinal inoculation: study of 2 cases].

The AA. describe two cases of serious juvenile myasthenia arisen after jennerian vaccination, antidiphteric and antitetanic vaccination in the first patient and after antitetanic vaccination in the second one. They put forward the hypothesis that in the two patients juvenile serious myasthenia is a complication due to vaccination for the following reasons: 1) the chronological relation between vaccination and the arising of myasthenic sumptomatology is very close; 2) the vaccine produces in the body a reaction of immunity type and myasthenia is nowadays generally considered as an immunity disease.