Disturbi cognitivi nell'epilessia del lobo temporale in età evolutiva

Objectives. To describe the impact of childhood temporal lobe epilepsy (TLE) on cognitive functions. Material and methods. Nine patients with TLE aged 11-17 years and 18 healty controls were investigated with a comprehensive neuropsychological assessment. Results. The performance of children with TLE was significantly worse across language, verbal short term memory and semantic tests, compared with the controls. Verbal and non-verbal recall was also impaired. A supplementary investigation of recognition memory showed a selective impairment in topographical memory. Conclusions. In our patients, the episodic memory impairment is similar, although less severe, to that reported in developmental hippocampal amnesia. Nevertheless, in our patients there are also impairments in semantic memory and more general language disorders. These data suggest that in TLE patients there is a more general dysfunction of the medial temporal left functions

Benign nocturnal alternating hemiplegia of childhood: a new case with unusual findings

It has been described a neuro developmental disorder labelled “Benign nocturnal alternating hemiplegia of childhood” (BNAHC) characterized by recurrent attacks of nocturnal hemiplegia without progression to neurological or intellectual impairment. We report a female patient who at 11 months revealed a motionless left arm, unusual crying without impairment of consciousness and obvious precipitating factors. The attacks occur during sleep in the early morning with lack of ictal and interictal electroencephalographic abnormalities, progressive neurological deficit, and cognitive impairment. Unlike previous reports of BNAHC our patient come from a family with a history of both migraine, hemiplegic migraine, and sleep disorders. Our study remarks on the typical features described in previous studies and stresses the uncommon aspects that could help to identify the disorder which is likely to have been underestimated. Despite some clinical similarities between BNAHC and familiar hemiplegic migraine and alternating hemiplegia of childhood, the genetic analyses of our patient did not reveal genetic mutations found in both disorders

Benign myoclonic epilepsy in infancy: neuropsychological and behavioural outcome

Benign myoclonic epilepsy in infancy (BMEI) is a rare syndrome of idiopathic generalized epilepsies with onset below 3 years of age. It has been reported that BMEI is associated with a good prognosis, however, recently some studies suggest less favourable neuropsychological outcome. We report a long-term follow-up of seven patients with BMEI. Seizure outcome and neuropsychological, cognitive, and behavioural evolution were discussed for each of them. At the end of follow-up, 86% of children showed neuropsychological and intellectual disorders: two children had mental retardation, three patients achieved a borderline IQ and one normal but low IQ. All but one displayed neuropsychological disabilities including fine motor skill deficits, attention deficits, and language impairment and learning disorders. Our clinical data and the previous reports suggest that the early onset of the seizures may be one of the main factors of the illness giving rise to a less favourable outcome. Additional interacting factors such as delayed start of treatment, and efficacy of the drugs may play an important role, too. We believe that BMEI does not exert, different from some epileptic encephalopathies, a quick destroying effect but may interfere with the growth of developing functions, which results in long-term neuropsychological disabilities

Resolution of enuresis with aripiprazole in children with psychiatric disorders: two case reports

Background: Aripiprazole is a third-generation atypical antipsychotic drug that acts as a stabilizer of the dopaminergic and serotonergic system. As partial agonist of the dopamine (D2) and serotonin (5-HT1A) receptors, it appears to be efective in reducing mania in patients with bipolar disorder, tics in Tourette Syndrome, aggression in schizophrenia and autism spectrum disorder. Enuresis has been reported among its side efects. Only a few studies, with conficting results, have investigated the relationship between aripiprazole and enuresis. Case presentation: We report the disappearance of enuresis in a Caucasian girl with intellectual disability and oppositional defant disorder and in a Caucasian boy with intellectual disability and early-onset psychosis, both following initiation of treatment with aripiprazole. Conclusion: The aim of this study was to contribute to the literature on the use of aripripazole in subjects with enuresis. Our fndings lead us to suggest that aripiprazole is less burdened with side efects, including bedwetting, than other antipsychotic drugs

Radioactivity of Mt. Etna volcano and radionuclides transfer to groundwater

The paper presents the results of a radiometric survey carried out on the eastern flank of Mt. Etna over an area of approximately 120 km2. Activity concentrations of 238,234U, 232,230,228Th, 226,228Ra, from 238U and 232Th decay chains, and potassium 40K were determined using α- and γ- spectrometry techniques. All rock samples presented activity concentrations of U, Th and Ra isotopes ranging from 20 Bq kg-1 to about 90 Bq kg-1, and they showed no particular compositional variations over the investigated area. Based on their respective elemental concentrations, the isotopic ratios of different elements were studied to check the presence of radioactive equilibrium, or disequilibrium, in the decay chains. Moreover, an attempt to calculate radionuclide transfer factors from soil to water was made, and the radiological risk resulting from ingestion of these isotopes contained in drinking water was calculated. The results were compared with current regulations on the quality of drinking water

Natural radioactivity content in groundwater of Mt. Etna's eastern flank and gamma background of surrounding rocks

Waters of Mt. Etna are the main source of drinking water for the local population and are also distributed in municipal supply systems to neighbouring areas. Radioactivity in underground waters and surrounding rocks from the eastern flank of Mt. Etna was investigated on the basis of 9 water and 8 rock samples from 12 localities altogether. Three samples were from water drainage galleries and six from water wells. All water intakes are used for consumption. Activity concentration of uranium isotopes234,238U, radium isotopes226,228Ra and radon222Rn were determined with the use different nuclear spectrometry techniques. The determination of uranium isotopes was carried out with the use of alpha spectrometry. The measurements of radium and radon activity concentration in water were performed with the use of a liquid scintillation technique. Additionally, rocks surrounding the intakes were examined with gamma spectrometry. All water samples showed uranium concentration above Minimum Detectable Activity (MDA), with the highest total uranium (234U +238U) activity concentration equal to 149.2±6 mBq/L. Conversely, all samples showed radium isotopes activity concentrations below MDA. Radon activity concentration was within the range from 2.91±0.36 to 21.21±1.10 Bq/L, hence these waters can be classified as low-radon waters. Gamma natural background of the rocks surrounding the water sampling sites was found on the same levels as other volcanic rocks of Italy

The hairy elbows syndrome: clinical and neuroradiological findings.

The hairy elbows syndrome (HES) is a rare congenital phenotype characterized by an abnormal increase in long hairs localized on the upper limbs extensor surfaces. This feature is often associated with short stature, facial asymmetry, dysmorphisms, intrauterine growth retardation (IUGR), and mental and speech delay. We report a case with hypertricosis cubiti associated with infantile spasms, behaviour disorders and cerebral hemisphere asymmetry. Although these findings have not been previously described we are uncertain whether they are unusual or underestimated. However, it is likely that these neurological findings are strongly interrelated leading to a more severe phenotype of the syndrome