Clinical dissection of childhood occipital epilepsy of Gastaut and prognostic implication.

BACKGROUND AND PURPOSE: Our aim was to describe the clinical and electrical features and the long-term evolution of childhood occipital epilepsy of Gastaut (COE-G) in a cohort of patients and to compare long-term prognosis between patients with and without other epileptic syndromes. METHODS: This was a retrospective analysis of the long-term outcome of epilepsy in 129 patients with COE-G who were referred to 23 Italian epilepsy centres and one in Austria between 1991 and 2004. Patients were evaluated clinically and with electroencephalograms for 10.1-23.0 years. The following clinical characteristics were evaluated: gender, patient age at seizure onset, history of febrile seizures and migraine, family history of epilepsy, duration and seizure manifestations, circadian distribution and frequency of seizures, history of medications including the number of drugs, therapeutic response and final outcome. RESULTS: Visual hallucinations were the first symptom in 62% and the only manifestation in 38.8% of patients. Patients were subdivided into two groups: group A with isolated COE-G; group B with other epileptic syndromes associated with COE-G. The most significant (P < 0.05) difference concerned antiepileptic therapy: in group A, 45 children responded to monotherapy; in group B only 15 children responded to monotherapy. At the end of follow-up, the percentage of seizure-free patients was significantly higher in group A than in group B. CONCLUSIONS: Childhood occipital epilepsy of Gastaut has an overall favourable prognosis and a good response to antiepileptic therapy with resolution of seizures and of electroencephalogram abnormalities. The association of typical COE-G symptoms with other types of seizure could be related to a poor epilepsy outcome.

Awareness of the offense and perception of the victim among juvenile sex offenders.

INTRODUCTION: The present work presents data on research into adolescents who committed sex offenses, carried out in the Apulia Region of southern Italy and focused in particular on the perpetrators' perception of the peculiar profile of the criminal act committed. MATERIALS AND METHODS: Three University sections of the School of Medicine, Bari University, took part in this research: Criminology and Forensic Psychopathology, Psychiatry and Juvenile Neuropsichiatry, working in collaboration with the Department for Juvenile Justice and the Community, and the Center for Juvenile Justice in Apulia. In total, 31 subjects were included in the study, all Juvenile Sex Offenders. A detailed questionnaire was employed to obtain all the relevant information of criminological concern. DISCUSSION: Among most of the minors considered, a very poor awareness emerged of the peculiar type of offense committed, and of its consequences on the victims and the social context. RESULTS: This finding highlights an evident contradiction and confusion between legislative provisions in the area of sex offenses and rape, and the perspectives of juveniles and adolescents. CONSLUSIONS: There is an evident need for legislative norms to adopt registers that are more accessible to the complex juvenile world, that cannot be assimilated to the adult world.

The strange association between achondroplasia and neurofibromatosis type 1: molecular analysis of a new patient and review of the literature.

The association between Achondroplasia and Neurofibromatosis type 1 has been described in only three patients. We report the clinical features and molecular characterization of a new patient with de novo ACH and NF1, providing for the first time a detailed clinical and molecular evaluation. Even if this association seems coincidental, some startling, intriguing correlations are discussed at the clinical and molecular level, between ACH, NF, and the existence of a common "mutator" genotype.

Changes in the amplitude of the N30 frontal component of SEPs during apomorphine test in parkinsonian patients.

Somatosensory evoked potentials (SEPs) to median nerve stimulation have been performed before and after apomorphine-test in 10 parkinsonian patients. Latency and amplitude of the P14-N20 parietal complex and of the P20-N30 frontal complex were evaluated. The N30 amplitude was significantly reduced before apomorphine administration (p < 0.001) with a consequent increase of the N20/N30 amplitude ratio (p < 0.001). Eight patients clinically improved after Apomorphine. Following Apomorphine there was no change in the amplitude of the parietal complex P14-N20. On the other hand the frontal complex P20-N30 showed a significant amplitude potentiation (p < 0.005), with a reduction of the N20/ N30 amplitude ratio (ns). This finding was almost constant among the 8 responder patients. These results suggest the utility of combining clinical and neurophysiological data to assess the responsiveness to dopaminergic treatment.

Short-latency median nerve somatosensory evoked potentials in three cases of parkinsonism and dopa responsive dystonia.

We studied somatosensory evoked potentials after median nerve stimulation in a sporadic case of dopa responsive dystonia and in two brothers with different combinations of dystonia and parkinsonism. The latencies of all potentials were normal. The amplitude of the P20-N30 frontal complex showed a significant reduction in all cases. Our results suggest a common neurophysiopathological pattern underlying these two conditions.

Depressive and adjustment disorders - some questions about the differential diagnosis: case studies.

BACKGROUND: Diagnosis and treatment of mood disorders in youth are still problematic because in this age the clinical presentation is atypical, and the diagnostic tools and the therapies are the same as that used for the adults. Mood disorders are categorically divided into unipolar disorders (major depressive disorder and dysthymic disorder) and bipolar disorder in Diagnostic and Statistical Manual of Mental Disorders (Fourth Edition, Text Revision), but mood symptoms are also comprised in the diagnostic criteria of the adjustment disorder (AD), which occur in many different psychiatric disorders, and may also be found in some physical conditions. The differential diagnosis is not much addressed in the midst of clinical investigation and so remains the major problem in the clinical practice. AIMS: The associations between some variables and the depressive disorder and AD were analyzed to make considerations about differential diagnosis. PATIENTS AND METHODS: We reported a retrospective study of 60 patients affected by depressive disorder and AD. The analysis has evaluated the association between some variables and the single diagnostic categories. We have considered 10 variables, of which 6 are specific to the disorders, and 4 have been considered related problems. RESULTS: The statistical analysis showed significant results for the associations of 3 variables (prevalent symptoms, treatment, and family history) with the single diagnostic categories. CONCLUSION: The discriminate analysis resulted in statistically significant differences between patients with depressive disorders and those with AD on 3 variables, of which 2 are specific to the disorders, and 1 is included in the related problems. The other variables were weakly associated with the single diagnostic categories without any statistically significant differences. The 3 variables that were associated with the single diagnostic categories support the distinct construct validity of the 2 diagnostic categories, but, to date, it is difficult to establish if these variables can be considered diagnostic predictors. On the other hand, the other variables did not support the distinct construct validity of the 2 diagnostic categories, which suggest an overlapping and dimensional concept. The spectrum approach could unify categorical classification that is essential with a dimensional view. Combination of dimensional and categorical principles for classifying mood disorders may help to reduce the problems of underdiagnosis and undertreatment.

Antiepileptic drugs in pregnancy: late effects on the children's cognitive abilities. Preliminary data.

The authors report preliminary data on cognitive development of 57 children, perspectively followed, who were exposed to antiepileptic drugs in utero for maternal epilepsy. Cognitive impairments are associated with other risk factors in 5 cases, so that a direct AEDs responsibility is not easy to prove.

Neurophysiological follow-up in a case of chronic progressive epilepsia partialis continua of childhood.

We report the waking and sleeping polygraphic and evoked potential data recorded during the follow-up of a child with chronic progressive epilepsia partialis continua of childhood (Bancaud's type II). The findings that emerged from these investigations coupled with the clinical pattern enabled us to delineate the course of this rare condition and provided clues for a tentative interpretation of the pathogenesis of the repetitive myoclonic jerks typical of epilepsia partialis continua, on which there is as yet no consensus. In our case involvement of cortico-subcortical systems seems probable.

[A case of toxoplasma encephalitis in infancy]. / Considerazioni su un caso di encefalite toxoplasmica in età infantile.

Diffuse encephalitis occurred in a 2 year old girl, with activation of a chorioretinitis, which on clinical and serological grounds was taken to be caused by toxoplasma infection. The small patient presented clinically not only typical ocular lesions (bilateral chorioretinitis) but also neurological complications with status comatosus with some archaic reflexes, diffuse and marked hyperkinesis, right hemiparesis, and frequent epileptic seizures. The encephalitis and the acute ocular inflammation were partially resolved by treatment with spiramycin and cortisone. This is, presumably, an example of reactivation of congenital cerebral toxoplasmosis. A similar course of events was reported--as far as we know--in only two children.

A case of Landau-Kleffner syndrome secondary to inflammatory demyelinating disease.

A 6-year old girl developed acquired aphasia with epilepsy and a paroxysmal EEG (Landau-Kleffner syndrome). Isoelectric CSF focusing showed oligoclonal IgG bands. Small lesions were visualized in periventricular left frontal white matter and right parietal lobe centrum semiovale with magnetic resonance imaging (MRI). After a week of ACTH therapy, the EEG paroxysmal activity disappeared; during the next few months, the language disorder improved. Further MRI examination showed a decrease in size and signal of the left frontal lesions, with localized white matter atrophy, dilatation of the subarachnoidal spaces, and disappearance of the right parietal lesion. The clinical and neuroradiologic features and the laboratory data suggest an acute disseminated encephalomyelitis.

Multiple sclerosis in childhood. Longitudinal study in 14 cases.

The Authors review the literature on the occurrence of multiple sclerosis in children and add 14 personal cases below the age of 15.5 years, the youngest being 6.4 years old. Modality of onset, clinical course, clinical classification according to the criteria proposed by McDonald and Halliday, paraclinical evidence of lesions and disability grade at the last control are widely discussed. Eleven cases were scheduled as clinically definite multiple sclerosis. In the youngest children the recovery may be often complete or the disability grade may be low.

[Lecithin therapy of hereditary ataxia]. / Terapia con lecitina nelle eredoatassie.

Eight patients with Friedreich's ataxia and eight others with syndrome of spino-cerebellar degeneration received oral lecithin (21 g daily) for a six-month period. No relevant clinical change was note either during or soon after treatment. Statistical analysis was also irrelevant in the total number of patients. Similar results emerged when grouping the patients at the stage of the illness (stage II in contrast with stage III-IV). The outcome of therapeutical trials in literature is discussed in comparison with results.

Brain excitability and long latency muscular arm responses: non-invasive evaluation in healthy and parkinsonian subjects.

Thirty healthy and 35 volunteers affected by Parkinson's disease (PD) were examined. Long latency responses (LLRs) and short latency somatosensory evoked potentials (SEPs) after median nerve stimulation were respectively recorded from forearm flexor muscles, and from 19 scalp electrodes, during relaxation (condition 1), light and maximal muscle contraction (conditions 2 and 3). Linear interpolation of SEPs was performed to produce isopotential colour maps. Latencies and amplitudes of the V1-V2 component in LLR, as well as of parietal, central and frontal scalp SEPs were analysed in the 3 experimental conditions. Highly significant inverse correlation matched the frontal SEP to the LLR V2 component amplitudes, both in healthy and in PD subjects. However, the V2 component--which in the former group was reliably identifiable only in condition 3--was presented in conditions 1 and 2 in a high percentage of PD subjects who also showed an abnormally reduced frontal SEP during complete relaxation. Excitability changes of brain motor areas induced by a sensory input were tested as follows: the motor cortex was transcranially stimulated (TCS) by magnetic pulses with an intensity 10% below (A) or above (B) the threshold for twitch elicitation during complete relaxation of forearm muscles; TCS was randomly preceded (range 14-32 msec) by a shock to the median or ulnar nerve at the elbow with identical characteristics as for LLR elicitation. An initial epoch of 'inhibition' followed by a peak of 'facilitation' of the amplitude of motor responses to TCS was observed when conditioning stimuli to the median nerve preceded TCS by 14-20 and by 24-32 msec, respectively. Contrary to normals, conditioning stimulation of the median nerve did not significantly influence the excitability threshold to TCS in those parkinsonians with depressed frontal N30.

Familial paroxysmal exercise-induced dyskinesia, epilepsy, and mental retardation in a family with autosomal dominant inheritance.

Only few sporadic and familial cases of paroxysmal exercise-induced dyskinesia (PED) have been described in literature. PED associated with familial epilepsy has been rarely reported. We describe a family in which six members in different generations were affected by a long-lasting PED, with childhood onset in five cases. Fasting and stress were also precipitating factors. All the subjects, moreover, showed epileptic seizures during childhood and adolescence. In addition, in all cases a condition of mild mental retardation was also documented, associated in some cases, with irritable and impulsive behaviour. Clinical, neurophysiological, neuroimaging and neuropsychological findings were reported. The homogeneous recurrence of this particular clinical picture in members of three generations emphasised a common genetic basis. In our patients, PED is transmitted as an autosomal dominant trait, with age-dependent penetrance, without evidence of genetic anticipation. The neurophysiological findings suggest a condition of hyperexcitability in the muscular and brain membrane, due to a ion channels disorder.

Familial paroxysmal exercise-induced dyskinesia and benign epilepsy: a clinical and neurophysiological study of an uncommon disorder.

We report a family with 6 members affected by a long-lasting paroxysmal exertion-induced dyskinesia. Fasting and stress were precipitating factors. All the patients of this family had also epileptic seizures mainly of generalised type with a favourable outcome. All patients were submitted to a neurophysiological study which included somatosensory evoked potentials by median nerve stimulation (MN-SEPs), somatosensory evoked potentials by posterior tibial nerve stimulation (PTN-SEPs), brainstem auditory evoked potentials (BAEPs), visual evoked potentials (VEPs), motor evoked potentials (MEPs) by magnetic transcranial cortical stimulation (TCS) and electromyography (EMG). The neurophysiological findings suggest a hyperexcitability at the muscular and brain membrane levels, probably due to an ion channel disorder.

Clinical, cytogenetic, and molecular characterization of a patient with a de novo interstitial 22q12 duplication.

We report a 19-year-old woman with minor craniofacial anomalies, mild mental retardation, and foramina parietalia permagna (FPP) (OMIM 168500). Cytogenetic analysis showed a de novo interstitial chromosome 22 long arm duplication. FISH with a panel of chromosome 22q12-q13 bands-specific BAC clones refined the cytogenetic investigation, and restricted the duplicated segment to the q12 region. Mutation analysis of FPP genes identified an insertion mutation in the ALX4 gene (344insC) in the proband and her father with loss of function of the gene. The patient's phenotype is considered in the light of the results of the cytogenetic, FISH, and molecular investigations, and her features are compared with those of other patients with similar duplications. Finally, variable phenotypic findings due to different 22q duplicated chromosomal segments are discussed. Our report indicates that 22q12 interstitial duplications are associated with craniofacial anomalies and mild mental retardation, while life threatening malformations are usually not present. Although these phenotypic changes are common and non-specific, molecular study of our patient established more precise relationships between clinical findings and 22q duplicated region(s). This approach fosters better counseling of the families of patients with newly diagnosed, similar duplications.

Desmopressin and imipramine in the management of nocturnal enuresis: a multicentre study.

The efficacy and safety of desmopressin (Minirin/DDAVP) treatment compared with imipramine were investigated in a multicentre, open, cross-over design in 57 patients, aged 6-15 years, affected by nocturnal enuresis to establish the best therapeutic approach to this condition. After a two-weeks observation and control period, patients were randomised to one of two groups: intranasal administration of desmopressin, 30 micrograms/day for three weeks, followed by imipramine, 0.9 mg/kg for a further three weeks, or imipramine 0.9 mg/kg for three weeks, followed by desmopressin, 30 micrograms/day for a further three weeks. Following treatment, all patients were observed for a further two weeks. Administration of either treatment protocol resulted in a statistically significant decline in the number of enuretic episodes per week compared to the control. The greater antidiuretic effect observed in the group receiving imipramine followed by desmopressin suggests the two compounds have different profiles. Also, when the treatment period was compared with the follow-up, the antidiuretic effect had a longer duration in the group initially given imipramine. No further improvement was seen when desmopressin was administered first, with a mild worsening of the effect sometimes occurring, suggesting a different carry-over effect between the two treatments. This suggests that desmopressin offers a better approach to the management of nocturnal enuresis.