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Biomedical subjects

P Curatolo

Publications and source records attributed to P Curatolo.

At least 73 records · Page 4Linked to original sources
PubMed1980

Joubert syndrome: a case confirmed by computerized tomography.

The authors report a new case of Joubert syndrome (agenesis of the cerebellar vermis, mental retardation, disturbance of respiratory rhythm, ataxia, abnormal eye-movements) and review the relevant literature on the other nine cases reported. The diagnosis in the present case was confirmed by computerized tomography. Early recognition of this syndrome is important in view of the prognosis and for genetic counseling.

Cerebellum↗
PubMed1979

'De novo' trisomy 16q11 to pter.

A de novo 16q- trisomy was found in a patient with severe mental retardation and mild physical abnormalities. A preliminary delineation the clinical features characteristic of trisomy 16q- is proposed, based upon comparison of the two cases identified so far. The mild phenotypical effects of this chromosome imbalance suggest that the alleged lethality of partial chromosome 16 aneuploidies should be reconsidered.

Chromosomes, Human, 16-18↗
PubMed1979

Agenesis of the vermis cerebelli and malformations of the posterior fossa in childhood and adolescence.

Three cases of cerebellar vermis agenesis are reported and the relevant literature (19 other cases) is reviewed. Other posterior fossa malformations, such as a mega-cisterna magna, arachnoid cyst and Dandy-Walker syndrome, are discussed both from the pathological and clinical view point. We put forward a hypothesis that agenesis of the cerebellar vermis and Dandy-Walker syndrome could be regarded as two different stages of the same malformation.

Arachnoid↗
PubMed1978

Cranial dermal sinuses in childhood and adolescence.

Forty-six cases of cranial dermal sinus found in patients up to 16 years of age are described: forty cases are recorded from the literature, six are personal cases. The clinical anatomical and radiological features, as well as the surgical findings of these unusual cranial congenital lesions are reviewed.

Adolescent↗
PubMedDate not supplied

Sleep disorders in tuberous sclerosis: a polysomnographic study.

Overnight polysomnography was performed in 10 subjects with tuberous sclerosis (TS) and partial epilepsy in order to investigate the relationships between sleep organization, sleep disorders and epilepsy. Sleep architecture abnormalities were observed in 9 cases. Compared with ten healthy age-matched controls, the TS group showed a shorter total sleep time, a reduced sleep efficiency, a higher number of awakenings and stage transitions, an increased wake after sleep onset and stage 1 and a decreased REM sleep. Children with seizures showed a more disrupted sleep architecture compared with seizure-free children. Sleep disorders in TS were mainly due to sleep-related epileptic events and were more evident in children who showed large bifrontal or temporal tubers on MRI.

Adolescent↗
PubMedDate not supplied

Toxocara infection and epilepsy in children: a case-control study.

A case-control study of 305 children was done to evaluate the relationship between toxocariasis and seizures and risk factors associated with toxocariasis transmission and seizure onset. A significant association existed between seropositivity for anti-Toxocara canis and seizures (p less than 0.05); the correlation was closest in children aged less than 5 years of age. Among risk factors, pica was more common in children with seizures than in controls but was not associated with toxocariasis. The association between dog ownership and toxocariasis was highly significant (p less than .000001). Our findings suggest that toxocariasis may be involved as a cofactor in the pathogenesis of seizures.

Animals↗
PubMedDate not supplied

Topographic comparative study of magnetic resonance imaging and electroencephalography in 34 children with tuberous sclerosis.

A series of 34 children with confirmed tuberous sclerosis (TS) were studied prospectively by both EEG and magnetic resonance imaging (MRI) at ages ranging from 5 months to 18 years. Size and topography of the cortical tubers were analyzed on axial and coronal views, in T2 sequences, and the large tubers greater than 10 mm were studied. In addition, EEG follow-up data were reviewed retrospectively. Twenty-six patients (76%) had both MRI large cortical tubers and EEG foci, 3 had normal EEG, 2 had normal MRI, and the remaining 3 had only small tubers. The number of large tubers was significantly related to EEG foci. A topographic MRI/EEG correspondence was observed for at least one tuber in 25 of the 26 patients, and correspondence was complete in 10 patients. Large cortical tubers without corresponding EEG foci were observed in 11 patients; these tubers mainly involved the frontal regions and were found before the patients were 2 years old. EEG foci without corresponding tubers were observed in 4 patients. In addition, secondary bilateral synchrony was preferentially observed in patients with frontal lesions and after the age of 2 years. These data confirm that the cortical tubers are epileptogenic and that their expression may be influenced by regional cortical maturation.

Adolescent↗
PubMedDate not supplied

[Flunarizine in drug-resistant epilepsies of childhood and adolescence].

Therapeutic effects of flunarizine have been studied on 26 patients, aged from 9 months to 17 years, suffering for epilepsies resistant to common anticonvulsant treatment, despite proper plasmatic levels of drugs. All the cases were monitored with monthly clinical and EEG controls, neuropsychological evaluations and monitoring antiepileptic drugs plasmatic levels. At first, a study was performed on an intra-patient basis: after a basal observation during two months, an open clinical trial was started, using for three months flunarizine 5 mg a day in patients weighing over 10 kg, and 5 mg every two days in children weighing less than 10 kg. Later on, a simple blind clinical trial has been performed on 16 patients, using flunarizine or placebo for three months. The results, obtained in resistant epilepsy of children and adolescent, showed that flunarizine induced in 47.6% of cases a significant reduction of critical (stroke) frequency and intensity, together with normalization of sleeping-waking rhythm, and amelioration of attention performances (vigilance, reactivity, environmental participation). The only side-effect, noticed in 23.8% of cases, was a light diurnal sleepiness, spontaneously regressing after a few days of treatment.

Adolescent↗
PubMedDate not supplied

Flunarizine in therapy-resistant infantile epilepsies.

An open add-on trial with flunarizine has been carried out in 27 cases of therapy resistant infantile epilepsies: 15 partial and 12 generalized epilepsies. Etiology was an hypoxic-ischemic encephalopathy (HIE) in 13 cases, cerebral malformations in 10 cases and 4 various prenatal and perinatal cases. After a 2 months baseline period, flunarizine was given in addition to the previous therapy in a 5 mg once daily dose. A single blind versus placebo study was carried out in another series of 16 cases. Better results were found in HIE cases than in malformative cases, and in cases with perinatal HIE than in cases with prenatal hypoxic encephalopathy. The improvement in symptomatic generalized epilepsies was more evident than in symptomatic partial epilepsies. Drowsiness was the only side effect reported.

Anticonvulsants↗
PubMedDate not supplied

[Effects of intravenous administration of chlordesmethyldiazepam on paroxysmal intercritical activity in various electroclinical forms of infantile epilepsy].

24 patients, ages ranging from 6 months to 14.5 years, affected by epilepsy resistant to common antiepileptic drugs were studied. CDDZ was administered intravenously at doses from 0.5 to 2 mg and EEG was recorded for 45 min (15 min before and 30 after drug administration). In 20 patients the EEGraphic paroxystic activity was modified: in 5 cases a total remission and in 2 cases a partial remission were obtained; in 13 cases the EEG alterations were reduced. Myoclonic petit mal and organic focal seizures were the forms of epilepsy showing the best responses to CDDZ administration. The drug was well tolerated and only in two cases was persistent drowsiness observed for more than six hours, possibly due to concomitant barbiturate therapy.

Adolescent↗