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Biomedical subjects

G Ambrosetto

Publications and source records attributed to G Ambrosetto.

At least 19 recordsLinked to original sources
PubMed2001

Ictal and nonictal paroxysmal events in infantile neuroaxonal dystrophy: polygraphic study of a case.

A 7.5-year-old girl, with infantile neuroaxonal dystrophy (INAD), showed a gradual deterioration from 16 months; at age 5 years she was bedridden, with severe tetraplegia, strabismus, nystagmus and optic atrophy, and dementia. From age 5.5 years, she had paroxysmal tonic events. Videopolygraphic recordings disclosed two different kinds of motor events: (a) epileptic tonic seizures, in wakefulness and sleep, associated with autonomic changes and ictal EEG discharges; and (b) nonepileptic prolonged clusters of brief tonic spasms, without ictal modifications of the EEG. Both motor events were characterized by a minimal and clinically similar tonic contraction of the upper extremities. Video-polygraphic studies are mandatory for a correct paroxysmal event classification and treatment in INAD patients.

Arm↗
PubMed2000

Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment.

Two familial X-linked dominant syndromes of cortical maldevelopment have recently been described: double cortex/lissencephaly syndrome and bilateral periventricular nodular heterotopia. We report on 12 kindreds with familial perisylvian polymicrogyria (FPP) presenting at 10 centers, examine the clinical presentation in these familial cases, and propose a possible mode of inheritance. The clinical and radiological pattern was variable among the 42 patients, with clinical differences among the families and even within members of the same family. Pseudobulbar signs, cognitive deficits, epilepsy, and perisylvian abnormalities on imaging studies were not found in all patients. When present, they displayed a spectrum of severity. The only clear correlation in this study was between bilateral imaging findings and abnormal tongue movements and/or pronounced dysarthria. Most of the families provided evidence suggestive of, or compatible with, X-linked transmission. On the other hand, the pedigrees of 2 families ruled out X-linked inheritance. The most likely mode of inheritance for these 2 families was autosomal dominant with decreased penetrance; however, autosomal recessive inheritance with pseudodominance could not be ruled out in 1 family. We conclude that FPP appears to be genetically heterogeneous. However, most of the families probably represent a third previously undescribed X-linked syndrome of cortical maldevelopment.

Adolescent↗
PubMed1998

Multilobar polymicrogyria, intractable drop attack seizures, and sleep-related electrical status epilepticus.

BACKGROUND AND OBJECTIVE: Patients with cortical malformations often have intractable seizures and are candidates for epilepsy surgery. Within an unselected series of patients with various forms of cortical malformation, nine patients with multilobar polymicrogyria had electrical status epilepticus during sleep (ESES) accompanied by infrequent focal motor seizures. Eight patients also had intractable atonic drop attack seizures. Because ESES usually is accompanied by a good long-term seizure prognosis, the objective of this study was to examine ESES outcome among patients with a structural lesion that is usually highly epileptogenic and has a low seizure remission trend. METHODS: The nine patients had follow-up periods lasting 4 to 19 years. All underwent brain MRI, serial sleep EEG recordings, and cognitive testing during and after ESES. RESULTS: ESES and drop attack seizures appeared between the ages of 2 and 5 years (mean, 4 years) and ceased between the ages of 5 and 12 years (mean, 8 years). At the last visit patients were 8 to 23 years of age (mean, 14.5 years) and were either seizure free or had very infrequent focal motor seizures during sleep. Three patients were free from antiepileptic drugs. In no patient was definite cognitive deterioration apparent after ESES in comparison with earlier evaluations. CONCLUSIONS: Age-related secondary bilateral synchrony underlying ESES may be facilitated in multilobar polymicrogyria. The good seizure outcome contrasts with that usually found in the presence of cortical malformations. For children with polymicrogyria and drop attack seizures, surgical treatment of the epilepsy should be considered cautiously, and sleep EEG recordings should be performed systematically.

Age of Onset↗
PubMed1995

Anterior corpus callosotomy: effects in a patient with congenital bilateral perisylvian syndrome and oromotor seizures.

Anterior corpus callosotomy was performed in a patient with pseudobulbar palsy, mild mental retardation and intractable epilepsy related to congenital bilateral perisylvian cortical dysplasia. Before surgery, she had daily atonic drop attacks, rare and mainly sleep-related oromotor seizures, and multifocal and diffuse paroxysmal EEG discharges; after callosotomy, less abrupt atonic drop attacks recurred monthly and the EEG epileptiform abnormalities disappeared. Video-EEG sleep recordings revealed the clinically unsuspected serial recurrence of oromotor seizures, probably related to the clinically observed aggravation of dysarthria. New surgical techniques, in addition or alternative to callosotomy, should be developed in order to avoid or reduce the risk of aggravating some types of partial seizures in patients with bilateral cortical displastic lesions, intractable epilepsy and epileptic falls.

Adult↗
PubMed1990

Orthostatic tremor: essential and symptomatic cases.

We studied clinically and electrophysiologically 8 patients affected by orthostatic tremor (OT), which is an unusual movement disorder consisting of shaking movements of the legs and trunk in the standing position. We failed to find any cause in 6 of the 8 cases. In 2 patients OT was clearly secondary to neurologic disease: hydrocephalus due to non-tumoral aqueduct stenosis and chronic relapsing polyradiculoneuropathy. The findings obtained suggest a relationship between OT and essential tremor (ET).

Aged↗
PubMed1989

Binswanger's disease: a review of the literature and a personal contribution.

Binswanger's disease is the name which has been given to a form of subcortical vascular dementia. These patients have a particular clinical profile which progressively includes strokes, gait disorder, pseudobulbar signs and cognitive impairment suggesting dysfunction of the prefrontal cortex. The radiological pattern of hypodensity of the white matter on CT scan (or an increased MRI signal), albeit much debated, seems to be more closely associated with hypertension, previous strokes and neuropsychological defects. Binswanger's disease probably represents the end stage of a pathological process in which hypertensive arteriolopathy, demyelination of the centra semiovale and deep infarcts all play a role.

Aged↗
PubMed1988

Marfan's syndrome, recurrent complex partial status epilepticus and myoclonus: a case report.

A 26 year-old mentally retarded woman suffering from Marfan's syndrome and epileptic seizures presented weekly recurrent complex partial status epilepticus for two years, and myoclonus at rest. A marked increase of the myoclonic jerks and transient signs of cerebellar dysfunction followed each occurrence of the status epilepticus. Myoclonus could be interpreted as: 1) a permanent neurologic consequence of primary CNS disorders or secondary to disorders of the connective tissue, 2) a persistent post-ictal sequela sustained by recurrence of complex partial status, or 3) an additional consequence of both brain disorders due to Marfan's syndrome and recurrence of complex partial status epilepticus. The case report raises the possibility that recurrence of complex partial status for a long period may be a risk factor of permanent neurologic deficit, especially in already brain damaged patients.

Adult↗
PubMed1987

Double-blind study of vigabatrin in the treatment of drug-resistant epilepsy.

Thirty-one patients with severe drug-resistant epilepsy entered the study. Vigabatrin (2 to 3 g/d, stratified according to weight) and placebo were administered orally, as add-on therapy in random order under double-blind conditions, each for three months using a crossover design. Thirty patients completed both periods. Of these, ten patients (33%) showed a decrease in seizure frequency of 50% or more. In the 15 patients presenting with complex partial seizures, "temporal" electroencephalographic abnormalities, and relatively low seizure frequency, there was a significant reduction in seizure frequency during vigabatrin treatment. No significant treatment effect was found for the remaining 15 patients, who presented with mixed seizure types, multifocal electroencephalographic abnormalities, and high seizure frequencies. Tolerability to vigabatrin was good; the most frequently reported unwanted effect was drowsiness. Plasma concentrations of phenytoin showed a significant reduction during the vigabatrin period. The results demonstrate the efficacy and good tolerability of vigabatrin therapy in patients with severe complex partial epilepsy.

Adolescent↗
PubMed1987

Predictive factors of seizure frequency and duration of antiepileptic treatment in rolandic epilepsy: a retrospective study.

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.

Adolescent↗
PubMed1986

Post-ictal gustatory hallucination, sleep related microspikes and glioma of the sylvian region: report of a case.

A 32 year old man affected by grade 1 astrocytoma of the right sylvian region and epileptic seizures, presented gustatory hallucinations as a post-ictal symptom. Spikes of very low voltage during sleep were the only epileptic abnormalities found on his EEG. It is suggested that post-ictal as well as ictal gustatory hallucinations may be a localizing symptom of glioma involving the sylvian region. Furthermore, if systematically searched for, sleep related microspikes may become an EEG sign useful for the diagnosis of brain tumour in patients with epileptic seizures and no epileptic discharges on the awake EEG.

Adult↗
PubMed1985

Sleep-related respiratory and haemodynamic changes in Shy-Drager syndrome: a case report.

The sleep-related respiratory and blood pressure changes in a patient with Shy-Drager syndrome associated with the sleep apnoea syndrome are reported. Polygraphic recordings showed repeated apnoeic episodes during both sleep and wakefulness. Systemic arterial pressure values during sleep tended to be lower than in two other patients with Shy-Drager syndrome, and, unlike observations in the sleep apnoea syndrome, nocturnal swings of arterial pressure related to obstructive apnoea were markedly reduced. As a result, the total sleep time was reduced; a sleep with several features similar to REM stage was identified; during this stage the arterial pressure reached the lowest levels recorded. A review of the literature revealed that nocturnal respiratory disturbances were detectable in a high percentage of patients with Shy-Drager syndrome. We suggest that such an association is not a chance one.

Aldosterone↗
PubMed1985

Drop attacks: an ominous change in the evolution of partial epilepsy.

We studied 16 patients with partial epilepsy and drop attacks. The drop attacks appeared 1 to 29 years after onset of epilepsy; 15 patients had these attacks weekly or daily, despite therapy. After the appearance of drop attacks, 6 patients had severe mental disorders, and social life was disrupted in 13. There was a high rate of adversive seizures, atypical absences, and diffuse spike-wave discharges in the EEG, electroclinical features that suggest a frontal origin of epilepsy. Drop attacks are ominous because they occur so frequently, resist therapy, are physically dangerous, and portend personality change.

Adolescent↗
PubMed1985

Time-dependent interaction between phenytoin and valproic acid.

The diurnal variation in total and free plasma phenytoin (PHT) concentration at steady state was examined in eight epileptic patients receiving combination therapy with tid valproic acid (VPA) as sodium salt. Eight patients treated with PHT, but not with VPA, were studied for comparison purposes. In the absence of VPA coadministration, total and free PHT concentrations did not change significantly during the day and showed only minor intrapatient fluctuations (14 and 13%, respectively). In patients receiving VPA, the mean total PHT did not change significantly, whereas the free PHT increased during the day (p less than 0.05). The fluctuations in total and free PHT in these patients were 16 and 17% on average. In the presence of VPA, the free PHT fraction was higher than in controls (13.9 +/- 2.3% versus 8.3 +/- 1.9%; p less than 0.01) and fluctuated to a greater extent (29 versus 14% in controls; p less than 0.01), mainly as a result of combined opposite swings in both total and free concentration. The diurnal changes in free PHT concentration and fraction correlated positively with the changes in plasma VPA. An inverse relationship between total PHT concentration and plasma VPA was found in some patients. These data demonstrate that the displacement interaction between PHT and VPA is subject to diurnal variation, probably as a result of the fluctuation in plasma VPA. The implications of these findings are discussed.

Adolescent↗