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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. Mild mental retardation (P < .01), pathological neurological examination (P < .05), cerebral lesions (P < .01), abnormal EEG background activity (P < .001), and associated genetic pathologies (P < .01) were more common in pervasive developmental disorder not otherwise specified. Familial antecedents for epilepsy prevailed in subgroup C (P < .01). Epilepsy occurred in 35.1% of patients with pervasive developmental disorder not otherwise specified, with no statistically significant difference compared with autistic disorder. The mean age of seizure onset was earlier (2 years 8 months) in pervasive developmental disorder not otherwise specified (P < .000). Seizure outcome was better in autistic disorder. Genetic diseases and cerebral lesions should be investigated in pervasive developmental disorder not otherwise specified to clarify the etiological and clinical features.

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. Epilepsy occurred in 51.1% (group 1) of cases and prevailed in autosomal abnormalities but without a statistical significance (P > .05). There was a prevalence of EEG paroxysmal abnormalities in group 1 (P < .0001); continuous spike-waves during sleep were observed in three cases. Profound mental retardation prevailed in group 1 (P < .001) and mild mental retardation in group 2 (P < .05). Generalized epilepsies prevailed significantly (P < .00001). A high-resolution karyotype should be undertaken in all patients with epilepsy presenting with mental retardation when an obvious etiology is not available.

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. Our patient presents one copy of the most common mutation (CYP2C19*2) affecting the activity of the isoenzyme and probably another rare or private mutation. CLB and N-CLB plasma level dosages and molecular analysis may be useful when a poor metabolic condition is suspected.

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. We examined the occurrence and features of epilepsy, intelligence, and psychiatric disorders in 28 patients with cerebellar hypoplasia. We compared patients with (10; 35.7%) and without (18; 64.3%) epilepsy. The statistical evaluation showed a significant prevalence of familial antecedents for seizures in patients with epilepsy (P < .01); cerebral associated lesions and type of cerebellar hypoplasia did not influence the occurrence of epilepsy, which was partial in 80% of cases. Profound mental retardation prevailed in patients with epilepsy (P < .05). Both mental retardation (75%) and pervasive developmental disorders (17.8%) prevailed in our cases with respect to the general population (P < .000). Cerebellar hypoplasia in our sample seems to be an important risk factor for the occurrence of epilepsy, mental retardation, and psychiatric disorders.

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 was not significantly more frequent in AD patients with macrocrania than in those without macrocrania. There were no significant differences in the other clinical characteristics studied except for epileptiform EEG abnormalities which were more often found in AD patients with epilepsy. AD with macrocrania and epilepsy is not a syndrome but may be a marker for a group of subjects with AD. A role for familial macrocrania needs further assessment., (Copyright 2002 Elsevier Science B.V.)

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). The aim was to investigate epilepsy, EEG paroxysmal abnormalities and possible etiological factors. The prevalence of epilepsy was 38.3%, much higher than that in a normal population of a similar age (6.6 per thousand). The prevalence of EEG paroxysmal abnormalities without epilepsy was 6.7%, higher than that in a population of adolescents and adults with psychiatric pathologies (2. 6%). Seizure onset was after age 12 years in 66.7% of cases. The most common type of epilepsy was partial in 65.2% and four patients (17.4%) had a benign childhood epilepsy with centro-temporal spikes. At the last observation 44.4% of patients had been seizure-free for 2 years or more. There were no organic factors influencing the development of epilepsy but familial and personal antecedents, mental retardation and CT scan/MRI data may suggest an early brain dysfunction responsible for AD and 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.

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. Although the ways in which the vaccine inoculation can give rise to the disease are unknown, it can be supposed that in the occurrence at the same time of a genetic factor or of an susceptible area, the vaccine can act as a factor provoking the immunity answer of myasthenic type.

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. The seizure's recording showed a brief burst of bilateral spike-waves. The psychomotor development was retarded but progressive. At 10 months 9 days the patient presented a status without any impairment to all therapeutic trials. Death occurred after 12 days of status. The unexpected severe evolution of this epilepsy with unknown etiology, which did not evoke any metabolic or degenerative diseases, is discussed.

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 0.001), and longer average interval between first and second seizure in Group II than in Group III (7.8 months versus 3.5 months, p less than 0.0001). Although the average duration of the disease was significantly shorter in Group II than in Group III (1.5 years versus 4.5 years, p less than 0.00001), the duration of the antiepileptic treatment was similar in both groups. Of the 8 untreated patients, 5 had a single seizure and one had 2 seizures. Therefore, it is suggested that antiepileptic treatment be delayed without risk until the third seizure occurrence and restricted to patients with no predictor of rare seizure recurrence.