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Biomedical subjects

E Veneselli

Publications and source records attributed to E Veneselli.

At least 19 recordsLinked to original sources
PubMed2006

Metabolic and genetic risk factors for migraine in children.

Migraine can induce ischaemic stroke, and is considered an independent risk factor for stroke in the young. To date, the nature of the link between migraine and stroke is essentially unknown. Forty-five children were studied. Homocysteine levels (fasting and post methionine load), vitamin B12 and plasma folate levels, factor V Leiden, factor II G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C mutations were examined. Compared with controls, patients with migraine had higher levels of post-methionine load homocysteine values (19.5 +/- 4.9 vs. 16.9 +/- 1.9; P = 0.025) and significantly lower folate levels (5.8 +/- 2.6 vs. 7.5 +/- 2.1; P = 0.002). We found a trend toward an increased risk of migraine in subjects carrying a homozygous mutant genotype for MTHFR C677T and MTHFR A1298C polymorphisms. Genetic prothrombotic conditions do not seem to be related to migraine in the young, whereas the biochemical differences between migrainous patients and controls are an appealing topic for further investigation.

Adolescent↗
PubMed2001

Neuroblastoma with symptomatic spinal cord compression at diagnosis: treatment and results with 76 cases.

PURPOSE: To report on the treatment of patients with newly diagnosed neuroblastoma presenting with spinal cord compression (SCC). PATIENTS AND METHODS: Of 1,462 children with neuroblastoma registered between 1979 and 1998, 76 (5.2%) presented with signs/symptoms of SCC, including motor deficit in 75 patients (mild in 43, moderate in 22, severe [ie, paraplegia] in 10), pain in 47, sphincteric deficit in 30, and sensory loss in 11. Treatment of SCC consisted of radiotherapy in 11 patients, laminectomy in 32, and chemotherapy in 33. Laminectomy was more frequently performed in cases with favorable disease stages and in those with severe motor deficit, whereas chemotherapy was preferred in patients with advanced disease. RESULTS: Thirty-three patients achieved full neurologic recovery, 14 improved, 22 remained stable, and eight worsened, including three who become paraplegic. None of the 10 patients with grade 3 motor deficit, eight of whom were treated by laminectomy, recovered or improved. In the other 66 patients, the neurologic response to treatment was comparable for the three therapeutic modalities. All 11 patients treated by radiotherapy and 26 of 32 patients treated by laminectomy, but only two of 33 treated by chemotherapy, received additional therapy for SCC. Fifty-four of 76 patients are alive at time of the analysis, with follow-up of 4 to 209 months (median, 139 months). Twenty-six (44%) of 54 survivors have late sequelae, mainly scoliosis and sphincteric deficit. CONCLUSION: Radiotherapy, laminectomy, and chemotherapy showed comparable ability to relieve or improve SCC. However, patients treated with chemotherapy usually did not require additional therapy, whereas patients treated either with radiotherapy or laminectomy commonly did. No patient presenting with (or developing) severe motor deficit recovered or improved. Sequelae were documented in 44% of surviving patients.

Adolescent↗
PubMed2001

Clinical and EEG findings in 18 cases of late infantile neuronal ceroid lipofuscinosis.

The objective of this study was to present clinical and electroencephalographic findings in 18 cases with late infantile neuronal ceroid lipofuscinoses, focusing on features that assist early diagnosis. Clinical and EEG findings have been described in the past for classic types, but several variants have recently been reported. The authors reviewed the clinical and EEG findings of 18 childhood onset neuronal ceroid lipofuscinoses cases. In the late infantile neuronal ceroid lipofuscinoses type, both typical and variant cases have been observed. In this type, the presence of a particular pseudoperiodic EEG pattern that we found in 15/18 patients and observed in the first stages of the disease could be useful in early diagnosis, especially if associated with the absence of sleep spindles. A precise nosological classification, based both on clinical and instrumental findings is the prerequisite for a correct genotype-phenotype correlation that could greatly improve our knowledge of this disease, providing a better understanding of pathogenesis and increasing our ability to treat it.

Anticonvulsants↗
PubMed2001

Distribution of epileptiform discharges during nREM sleep in the CSWSS syndrome: relationship with sigma and delta activities.

PURPOSE: The EEG pattern of epilepsy with continuous spike-waves during slow wave sleep (CSWSS) is characterized by an almost continuous activation of spike-and-slow-wave complexes during nREM sleep with a marked reduction of EEG abnormalities during REM sleep and the awake state. Experimental studies indicate that normal sleep oscillations that during nREM sleep lead to the appearance of spindles and delta waves on scalp EEG might develop into paroxysmal synchronization. Spectral analysis enables the quantitative description of the dynamics of delta (Delta Activity, DA, 0.5-4.5 Hz) and sigma activity (SA, 12-16 Hz) and can be used to assess the relationship between SA, DA and epileptiform discharges (EDs) during sleep. METHODS: We analyzed the EDs distribution during sleep in five children affected by CSWSS. We used a model of the evolution of power of DA and SA to which the time series of EDs could be fitted. RESULTS: We found a high and positive correlation between EDs and SA. DA resulted negatively correlated with EDs. CONCLUSION: Our data suggest that neural mechanisms involved in the generation of sleep spindles facilitate EDs production in the CSWSS syndrome. Such a mechanism seems to be an age related phenomenon shared by other epileptic syndromes of childhood.

Child↗
PubMed2001

Malignant migrating partial seizures in infancy.

A previously unreported epileptic condition characterised by onset before 6 months of age, nearly continuous electroencephalographic seizures involving multiple independent areas originating in both hemispheres, no identifiable cause, and poor outcome has been described by Coppola et al. We report three cases presenting the same clinical and EEG pictures. They show a peculiar epileptic condition unlike the other early epileptogenic encephalopathies, so they may represent a new infantile epileptic syndrome.

Brain↗
PubMed2001

Hypersomnia in the Prader Willi syndrome: clinical-electrophysiological features and underlying factors.

OBJECTIVE: Excessive daytime sleepiness is a common symptom in Prader Willi syndrome (PWs). Sleep disordered breathing (SDB) and narcoleptic traits such as REM sleep onsets (SOREMPs) have been reported in these subjects. We evaluated nighttime and daytime sleep patterns in patients with PWs in order to clarify the nature of their hypersomnia. DESIGN AND METHODS: We performed overnight continuous EEG-polysomnographic studies (with breathing monitoring included) in 14 subjects (6 M,8 F; mean age 17 years, range 8-37) affected by PWs unselected for sleep disturbances. Ten patients underwent a Multiple Sleep Latency Test (MSLT) the day following the nocturnal sleep studies. Patients assessment was completed by means of immunogenetic characterization. RESULTS: Nocturnal polysomnographic investigation documented sleep related breathing abnormalities such as central apneas, hypopneas or hypoventilation which mainly occurred during REM sleep in 8 subjects and did not cause sleep disruption. Only 4 subjects presented an increase in the Respiratory Disorder Index (RDI) slightly above the normal limits. In 8 subjects out of 10, with and without SDB, the mean daytime sleep latency could be considered abnormal according to the Tanner staging of pubertal development. Five patients showed at least two SOREMPs at MSLT. Subjects with and without SOREMPs had, respectively, a mean age of 18.6 SD 7.9 (4 M, 1 F) and 14.5 SD 2.9 (4 F, 1 M). The paternal deletion:uniparental dysomy ratio at genotypic characterization was 4:1 and 3.5:1 in subjects with and without SOREMPs, respectively. No patient presented DR-15 nor Dq-6. CONCLUSIONS: Excessive sleepiness is a frequent disturbance in PWs. Subgroups of PW patients show hypersomnolence and SOREMPs. Sleep disordered breathing appears to have a limited role in the genesis of hypersomnia which not seems on the other hand attributable to the coexistence of narcolepsy phenotype. Hypersomnia in PW syndrome is likely to mainly be attributable to a primary hypothalamic dysfunction. The potential interacting role of other factors such as subjects age, sex and genetic pattern is suggested and deserve further investigation.

Adolescent↗
PubMed2001

Temporal relationship of generalized epileptiform discharges to spindle frequency activity in childhood absence epilepsy.

OBJECTIVE: The hypothesis that the two main synchronizing mechanisms (spindle and delta oscillations) acting during non-rapid eye movement sleep show opposite relationship with the distribution of generalized epileptiform discharges (GEDs) during sleep was evaluated. METHODS: We studied the temporal relationship between the distribution of sleep GEDs and the dynamics of Sigma Activity (SA, 12-16 Hz) and Delta Activity (DA, 0.5-4.5 Hz) in 5 children affected by childhood absence epilepsy. RESULTS: Using correlation techniques, we found a high and positive correlation between GEDs and SA, while DA resulted negatively correlated with GEDs. CONCLUSION: Sleep generalized spike-and-slow-waves seems to be produced when spindle synchronizing mechanisms are active while DA production seem to exert an inhibiting role. Such a feature seems to be common to other childhood partial and undetermined epileptic syndromes.

Child↗
PubMed2001

Neuropsychological disorders related to interictal epileptic discharges during sleep in benign epilepsy of childhood with centrotemporal or Rolandic spikes.

Nine children (five males, four females; age range 6 years 1 month to 11 years 1 month) affected by benign epilepsy of childhood with centrotemporal or Rolandic spikes (BECRS) with EEG evidence of marked activation of interictal epileptic discharges (IEDs) during sleep, and nine unaffected control children matched for age, sex, and socioeconomic status, were enrolled in a prospective study. At the time of detection of IED activation during sleep, patients showed a mean Full-Scale IQ score within the normal range, but significantly below that of control participants; neuropsychological assessment revealed disorders in visuospatial short-term memory (Corsi's Block Tapping Test), attention, and cognitive flexibility (Trail Making Test and Stroop Color-Word Test), picture naming, and fluency (Benton's Naming Test and Word Fluency), visuoperceptual skill (Ghent-Poppelreuter and Street Gestalt Completion Tests) and visuomotor coordination (Bender Test). After detection of IED activation during sleep, children were followed up for 2 years. At the time of IED remission (T1), neuropsychological re-evaluation showed a notable increase in IQ score and a significant improvement (t-test: p<0.007) in visuomotor coordination, non-verbal short-term memory, sustained attention and mental flexibility, picture naming, and visual-perceptual performance. At T1, patients' performance did not differ from the controls (Mann-Whitney U test).

Anticonvulsants↗
PubMed2001

Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases.

The early onset type of cobalamin (Cbl) C/D deficiency is characterised by feeding difficulties, failure to thrive, hypotonia, seizures, microcephaly and developmental delay. It has an unfavourable outcome, often with early death and significant neurological impairment in survivors. While clinical and biochemical features of Cbl C/D deficiency are well known, only a few isolated case reports are available concerning neurophysiological and neuroimaging findings. We carried out clinical, biochemical, neurophysiological and neuroradiologic investigations in 14 cases with early-onset of the Cbl CID defect. Mental retardation was identified in most of the cases. A variable degree of supratentorial white matter atrophy was detected in 11 cases by MR imaging and tetraventricular hydrocephalus was present in the remaining 3 patients. Waking EEG showed a clear prevalence of epileptiform abnormalities, possibly related to the high incidence of seizures in these cases. Increased latency of evoked responses and/or prolongation of central conduction time were the most significant neurophysiological abnormalities. The selective white matter involvement, shown both by neuroradiologic and neurophysiological studies, seems to be the most consistent finding of Cbl C/D deficiency and may be related to a reduced supply of methyl groups, possibly caused by the dysfunction in the methyl-transfer pathway.

5-Methyltetrahydrofolate-Homocysteine S-Methyltran↗
PubMed2001

Long-lasting myopathy as a major clinical feature of sarcoidosis in a child: case report with a 7-year follow-up.

Muscle involvement in sarcoidosis is rarely described as the predominant feature and muscular symptoms are seldom observed. In recent pediatric series, sarcoid myopathy was no longer considered a typical aspect of sarcoidosis. The authors report a case of sarcoidosis in a patient presenting predominant muscular symptoms since childhood, due to biopsy-proven muscle localization. A seven-year follow-up has demonstrated a slow improvement of symptoms with persistency of electromyography (EMG) and biochemical abnormalities. Mild and transient pulmonary involvement was demonstrated only after diagnosis. Clinical improvement associated with a decrease in serum muscular enzyme levels with no changes in EMG was observed after a six-month course of systemic corticosteroid therapy. In childhood, skeletal muscle symptoms may be the presenting feature of sarcoidosis.

Adrenal Cortex Hormones↗
PubMed2000

Neuronal ceroid lipofuscinoses: clinical and EEG findings in a large study of Italian cases.

We reviewed the clinical and EEG features of 30 Italian patients with childhood-onset neuronal ceroid lipofuscinosis (NCL). The outcome and the EEG pattern of the 4 infantile NCL cases were classic, although the age at onset of symptoms varied from 1.0 to 3.5 years. This latter finding is unusual and has not been reported for other Italian patients. Both typical and variant cases of late-infantile NCL (LINCL) were observed. This NCL type represents the most common form in our country, and was the largest group (18 cases) in our study. A particular pseudoperiodic EEG pattern was observed in 15 of the 18 patients with LINCL. This pattern may be useful in early diagnosis, especially if associated with the absence of sleep spindles. In the 8 cases with juvenile NCL, clinical and EEG findings were similar to those reported in the literature.

Child↗
PubMed2000

Presence of delayed myelination and macrocephaly in the sister of a patient with vacuolating leukoencephalopathy with subcortical cysts.

Leukoencephalopathy with swelling and a discrepantly mild clinical course ("van der Knaap disease") is a recently identified syndrome. It is characterised by macrocephaly occurring during the first year of life, initially normal or nearly normal development, and slowly progressive ataxia and spasticity with initial preservation of intellectual functions. MRI shows diffuse abnormality in signal intensity, as well as swelling of the hemispheral white matter with subcortical cyst-like spaces in the fronto-parietal and anterior temporal areas. It is thought to have an autosomal recessive mode of inheritance, since many patients have consanguineous parents and more than one affected patient is often present within the same family. We report on two sibs: a 5-year old boy affected with "van der Knaap disease" and his macrocephalic sister whose first MRI (2 years 6 months) showed delayed myelination, which led us to suspect the same disease as her brother, however with subsequent normalisation at the second MRI (3 years 6 months).

Brain Diseases↗
PubMed1999

Unusually prolonged survival and childhood-onset epilepsy in a case of alobar holoprosencephaly.

Alobar holoprosencephaly is one of the most severe congenital malformations of the central nervous system. Most affected infants are stillborn or have a very short life-span. The survivors can present with neonatal seizures and/or infantile spasms. We report on an unusually long-lived patient with alobar holoprosencephaly and minor facial dysmorphism, who developed generalized epilepsy during childhood.

Child↗
PubMed1999

Phenylketonuria: diet for life or not?

In order to evaluate the argument whether or not a restricted phenylalanine diet should be maintained for life in patients with phenylketonuria (PKU), 16 patients with early treated PKU but off diet since their 11th birthday were investigated. The evaluation included a detailed neurological examination, IQ, neurophysiological testing and MRI of the brain. Even if IQ and electrophysiological studies were normal or unchanged if compared to results before diet discontinuation, all patients revealed abnormal neurological signs. We conclude that the diet should be continued during adult life, but somewhat higher phenylalanine levels (<10mg/dl;<600 micromol/l) than at younger ages should be allowed.

Age Factors↗
PubMed1998

Effect of steroid and high-dose immunoglobulin therapy on opsoclonus-myoclonus syndrome occurring in neuroblastoma.

The authors describe a case of an 8-month-old boy with opsoclonus-myoclonus syndrome (OMS) and coincident unresectable neuroblastoma (NB). He achieved a complete remission for NB after 6 courses of standard-dose chemotherapy without significant neurological improvement despite the use of steroids and high-dose immunoglobulin (HIG), administered separately. Only the combined treatment withthese two drugs induced a complete disappearance of neurological symptoms. On the basis of this experience, the authors suggest the association of steroids plus HIG for the treatment of OMS in patients not responsive to conventional first line therapy with steroids.

Antineoplastic Agents, Hormonal↗
PubMed1998

Neurophysiological findings in a case of carbohydrate-deficient glycoprotein (CDG) syndrome type I with phosphomannomutase deficiency.

The carbohydrate-deficient glycoprotein (CDG) syndromes are multisystemic disorders involving the glycosylation pathway. The most common subtype is CDG syndrome type I (CDG I). In most CDG I patients a phosphomannomutase (PMM) deficiency has been recognized as the basic defect. We made a neurophysiological evaluation in an 8-year-old boy affected by CDG I with PMM deficiency. The evaluation included central and peripheral nervous system assessment [electroencephalogram (EEG), multimodal evoked potentials (MEP), somatosensory evoked potentials (SEP), visual evoked potentials (VEP), auditory brainstem response (ABR), electroretinogram (ERG) and motor and sensory nervous conduction velocity (NCV)]. We found a peculiar electrophysiological pattern characterized by slowly and mildly progressive motor NCV reduction; progressive impairment of ERG and VEP; slowing of background activity and sharp waves at the EEGs; late sensorineural abnormality of ABR; decreased amplitude and increased latency of SEP. To our knowledge this is the first report involving the neurophysiological aspects both at onset and during follow-up of a case of CDG I with proven PMM deficiency.

Atrophy↗