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Biomedical subjects

C Boniver

Publications and source records attributed to C Boniver.

13 recordsLinked to original sources
PubMed2006

Hemiconvulsion-hemiplegia-epilepsy syndrome: early magnetic resonance imaging findings and neuroradiological follow-up.

We describe a case of hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome documented by longitudinal magnetic resonance imaging (MRI). A two-year and nine-month-old boy had a prolonged hemiconvulsion during fever followed by right hemiparesis. Seven days later the imaging abnormality on T2 and diffusion-weighted images (DWI) was limited to the white matter of the left hemisphere. One month later severe gliosis and unilateral brain atrophy were already evident. MRI is useful in the early stages of prolonged seizures and T2 and DWI abnormalities appear to be well correlated with parenchymal damage that results from sustained ictal activity. The neuroradiological findings in our case and in the few HHE patients reported in the literature seem to be very characteristic and, if confirmed in larger series, could permit an early diagnosis.

Child, Preschool↗
PubMed2004

Quality of life in young Italian patients with epilepsy.

The objective was to evaluate the quality of life of young Italian patients with epilepsy and to investigate the influence of epilepsy medical variables on patients' quality of life. The settings were the Department of Paediatrics, University of Padua; Children's Hospital Giovanni XXIII, Bari; and three schools of South Italy. A sample of 285 subjects was selected: 140 subjects affected by idiopathic and cryptogenic epilepsy (classified according to the International League Against Epilepsy criteria) and 145 control subjects. Data derived from the comparison between the two groups throughout "Epilepsy and children questionnaire" confirmed the negative epilepsy impact on the young patients' quality of life: in fact they scored significantly lower on psychological and social domains (p</=0.05) than the control group. The quality of life in children with epilepsy is significantly compromised. The questionnaire used in this study is a valid and reliable self-evaluation instrument that can improve clinical research on the quality of life in epilepsy.

Adolescent↗
PubMed1999

No evidence of a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1.

PURPOSE: A locus for benign familial convulsions (BFICs) has been recently mapped on chromosome 19q12-13.1 by studying five families of Italian descent. The main goal of this study was to investigate the role of this locus in a set of seven newly identified families with at least three affected cases. METHODS: Five polymorphic microsatellite markers covering the BFIC locus on chromosome 19q have been typed, and parametric linkage analysis has been performed to analyze the segregation of the BFIC locus within our families. RESULTS: Cumulative 2-point lod scores and multipoint analysis showed no evidence of linkage between chromosome 19 markers and the BFIC phenotype. The analysis of family-specific 2-point lod scores and haplotypes, however, indicated the presence of linkage to chromosome 19q in a single family, suggesting genetic heterogeneity within our family sample. CONCLUSIONS: Our study demonstrates that the previously reported BFIC locus on chromosome 19q12-13.1 is not a major locus for BFICs. We suggest that genetic heterogeneity may have generated our discordant linkage findings, as it was reported in benign familial neonatal convulsions, a related idiopathic mendelian syndrome.

Chromosome Mapping↗
PubMed1991

Somatosensory pathway dysfunction in uremic children.

Neurophysiological studies have shown defects in peripheral conduction in up to 75% of adults with end-stage renal disease (ESRD), though abnormalities of central conduction seem more variable. There are no comparable pediatric data. We therefore measured median nerve somatosensory evoked potentials (SEPs) in 10 children with ESRD, maintained by hemodialysis, who had no neurological signs or symptoms, and compared the results with those for age-matched controls. The latencies of N9, P14, N20 and P22, and interpeak latencies, N9-N20, N9-P14 and P14-N20, were not significantly different between the two groups (Student's t test). However, the children with ESRD were significantly retarded in growth and when arm length was taken into account, a significant difference in peripheral conduction was revealed. There was no correlation with other indexes of disease severity (parathormone, aluminium, Hb, Na, K, Cl, BUN and creatinine). SEPs appear to reflect subclinical changes in peripheral conduction in sensory pathways in children with ESRD which are not correlated with other measures of disease severity.

Adolescent↗
PubMed1990

99mTc HM-PAO SPECT in pediatric migraine.

99mTC HM-PAO SPECT brain imaging was performed during the headache-free period in 19 young migraineurs, affected by common migraine (CM, 10 cases), classic migraine (CLM, 6 cases) and hemiplegic migraine (HM, 3 cases). SPECT findings were negative in all 10 patients with CM, in 3 cases of CLM and in 2 cases of HM. Positive findings in the remaining 4 patients (3 cases of CLM and 1 of HM) showed a decreased tracer distribution in the temporo-occipital regions (2 cases) and parietal regions (2 cases): the two with decreased temporo-occipital perfusion reported prodromal symptoms exclusively contralateral to the areas of hypoperfusion. An impaired regional cerebral vascular autoregulation may exist even during headache-free intervals in patients suffering from classic and hemiplegic migraine.

Adolescent↗
PubMedDate not supplied

Electroclinical diagnosis of Angelman syndrome: a study of 7 cases.

The authors describe 7 new cases of Angelman syndrome (AS: 3 males and 4 females) diagnosed on the basis of clinical features (dysmorphic facial features, severe mental retardation with absent speech, peculiar jerky movements, ataxic gait and paroxysms of inappropriate laughter) and neurophysiological findings. Failure to detect deletion of the long arm of chromosome 15 or the absence of epileptic seizure were not considered sufficient to exclude a diagnosis of AS. Feeding problems, developmental delay and early signs of ataxia, especially tremor on handling objects and unstable posture when seated, proved effective as clinical markers for early diagnosis of AS. The EEG patterns characteristic of AS were found within the first 2 years of life (under 18 months in the majority of cases). The authors conclude that AS should be included in differential diagnosis in a child aged under 12 months having cryptogenic psychomotor retardation with prevalent language compromise. Repeat EEG recordings are needed to check for the typical trace, and cytogenetic investigations are mandatory.

Angelman Syndrome↗
PubMedDate not supplied

Neonatal tuberous sclerosis presenting with intractable seizures.

A 2-day old girl with status epilepticus, unresponsive to maximum pharmacological intervention, is reported. Findings of brain and cardiac lesions pointed to the diagnosis of tuberous sclerosis. One of the brain lesions was unusually large, occupying most of the right temporo-parietal lobe.

Anticonvulsants↗
PubMedDate not supplied

[Finding of focal heterotopy with magnetic resonance. Description of a case associated with late onset epilepsy].

A case of late onset focal epilepsy in a mentally and neurologically normal girl in which the MRI showed a focal heterotopia is presented. The efficacy of this new procedure in detecting migratory disorders is discussed and the scanty literature reviewed. This case suggests that in the future more cases of epilepsy previously classified as "cryptogenetic" will be demonstrated as secondary to developmental abnormalities.

Brain↗
PubMedDate not supplied

[Rett syndrome: clinical aspects and EEG for an early diagnostic assessment].

Clinical and EEG findings have been analysed in six patients with Rett syndrome with a mean follow-up of 3 years and 9 months. After reviewing the diagnostic criteria for inclusion, which are essentially clinical, we emphasize two aspects which have been shortly considered in the literature: a) epileptic seizures, b) peculiar differential characteristics between primary autism and the Rett syndrome behaviour. Moreover, we underline the importance of serial EEG poligraphic records for early diagnosis.

Autistic Disorder↗
PubMedDate not supplied

[Pathology of the umbilicus: case report of a suppurative cyst of the urachus in a 12-year-old girl].

After having illustrated the varied pathology of the umbilical region, the A.A. describe a case of a suppurated cyst of the urachus (pyourachus) in a 12 years old girl. They underline the many types of onset as well as of evolution of the urachal cysts and the differential diagnosis of them. Fistolography, when possible, is the decisive examination. Obviously the treatment may be only surgical. The premonitory signs for a precocious diagnosis are indicated.

Child↗