Bilateral intracavernous carotid artery aneurysms presenting as abducens nerve palsy: case report.

Bilateral intracavernous carotid artery aneurysms are very rare and can be usually observed in patients with multiple intracranial aneurysms. Here we present the case of a 73 year-old woman who experienced worsening diplopia due to progressive bilateral paresis of the lateral rectus muscles. Computed tomography (CT) and magnetic resonance imaging (MRI) examinations showed bilateral roundish parasellar and intracavernous masses, with homogeneous contrast-enhancement and absence of subarachnoid haemorrhage (SAH). Cerebral angiography revealed bilateral aneurysms of the intracavernous carotid artery. Once considered the age of the patient, the anatomical features of the aneurysms and the risks of traditional or endovascular surgery, we decided not to proceed to any treatment other than the orthoptic correction of the diplopia and the careful correction of arterial hypertension. We provide a brief review of the literature on bilateral intracavernous aneurysms and a discussion about their treatment.

GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy.

BACKGROUND: Dysfunction of gamma-aminobutyric acid (GABA) (B) receptors has been implicated in the pathogenesis of temporal lobe epilepsy (TLE). OBJECTIVE: To evaluate the genetic contribution of cloned human GABA(B) receptors to TLE. METHODS: The authors genotyped 141 patients (78 women and 63 men; mean age = 49.1 +/- 18.0 years) with nonlesional TLE and 372 age- and sex-matched normal individuals for the known polymorphism G1465A in the human GABA(B) receptor 1 [GABA(B[1])] gene. RESULTS: There was a highly significant overrepresentation of the G1465A heterozygote in patients with TLE compared with controls. The A/G genotype was found in 17% of the 141 patients with TLE and in only 0.5% of the 372 controls (p < 0.0001). The authors also found that patients carrying the A allele had a significantly higher risk (p = 0.003, OR = 6.47, 95% CI = 2.02 to 20.76) of developing drug-resistant TLE. Furthermore, the age at onset of seizures tended to be lower in patients with A/G genotype, but the difference was not significant. CONCLUSIONS: The results of this study indicate that the GABA(B[1]) polymorphism (G1465A) confers a highly increased susceptibility to TLE. Moreover, it seems to influence the severity of this common epileptic disorder.

Fatal familial insomnia: genetic, neuropathologic, and biochemical study of a patient from a new Italian kindred.

Fatal familial insomnia (FFI) is an inherited prion disease linked to a mutation at codon 178 of the PRNP gene that results in aspartic acid to asparagine substitution, in coupling phase with methionine at position 129. The disease is characterized clinically by insomnia with disturbances of the autonomic, endocrine, and motor systems and neuropathologically by selective degeneration of the thalamus. Phenotypic variability is well known and has been linked to homozygosity or heterozygosity at PRNP codon 129. We report the clinical, neuropathologic, and biochemical findings and genomic analysis of a patient with FFI from a new Italian kindred. Although homozygous for methionine at codon 129, this patient showed some clinical and pathologic features most commonly found in heterozygotes.

[Multiple sclerosis in childhood: a report of 2 clinical cases]. / Sclerosi multipla in età pediatrica: descrizione di due casi clinici.

Multiple sclerosis is a rare finding in pediatric age. The onset of the disease may be in adolescence or pre-adolescence. It is important that pediatricians know the diagnostic criteria and clinical course of multiple sclerosis in childhood. We describe the case reports of two children, a 11- and a 14-years-old girls and review the literature of the last 5 years on multiple sclerosis in childhood.

Eye closure sensitivity without photosensitivity in juvenile myoclonic epilepsy: polysomnographic study of electroencephalographic epileptiform discharge rates.

Two cases of juvenile myoclonic epilepsy (JME) presented with myoclonic jerks and EEG activation after eye closure, without sensitivity to intermittent photic stimulation. The effect of eye closure was computed by comparing discharge rates of polyspike-and-wave (PSW) complexes after eye closure and after eye opening. For one patient, never treated pharmacologically, a nocturnal polysomnograph was performed to study the variation of discharge rates of PSW complexes during wakefulness and sleep. The rate of PSW complexes was high during wakefulness before sleep onset, increased during spontaneous nocturnal awakenings, and became maximal during final morning awakening. Among nonrapid eye movement (NREM) sleep stages, EEG epileptiform activity was maximal during stages III and IV. Discharges were completely suppressed by rapid eye movement (REM) sleep. Awakenings following deep NREM sleep were very activating if no REM sleep was interposed. Awakenings from light NREM sleep were much less activating. There were no EEG abnormalities in awakenings immediately following REM sleep. Results suggest that REM sleep, similarly to eye opening, plays a role in inhibiting EEG manifestations of JME with eye closure sensitivity.

Altered bladder function as the only and late presenting symptom of ependymoma of the filum terminale.

Tumors of the spinal cord present as a rule with posterior pain with or without radiation to the limbs, with loss of strength and/or sensory disturbances. We report a case in which acute retention of urine was the only presenting symptom.

Early prognosis of epilepsy. Effects of treatment in the first follow-up year.

A multicenter prospective investigation was conducted in 17 teaching and general hospitals in Italy to assess the efficacy of the care delivered to previously untreated patients with epilepsy. 175 cases were included and allocated to monotherapy. Only 112 cases completed the first year of follow-up. Of these, 59 (52.7%) were completely controlled and 53 (47.3%) had one or more seizure relapses. Controlled and uncontrolled patients were compared with respect to the main variables believed to influence non-responsiveness to standard therapy. The proportion of cases with relapses was significantly associated with the number of seizures reported before treatment was started. Selected seizure patterns (absences, myoclonic seizures) and prolonged disease duration were also reported more frequently among patients with recurrences. The implications of these findings are discussed with respect to drug response and prognosis of epilepsy.

Cerebral metastases from perineal leiomyosarcoma.

A case of cerebral metastases from perineal cutaneous leiomyosarcoma is described and documented by the histological and CT findings.

Drug utilization studies and epidemiology.

Drug utilization studies have developed rapidly over the last ten years to become not only a new tool of investigation for clinical pharmacology but also a source of suggestive information for epidemiology. This paper begins by reviewing the general terms of reference, with special emphasis on the WHO-recommended methodology based on defined daily doses (D.D.D.), then focuses on antidiabetic treatment, and antihypertensive therapy, and on the use of drugs in psychiatry, in pregnancy, in elderly people and in cancer patients. These examples are given to show how drug utilization studies can be of use for epidemiological studies.

Quality of care of epilepsy in Italy: multi-hospital survey of diagnosis and treatment of 1104 epileptic patients.

We surveyed the treatment of 1104 patients admitted to 27 out of the 46 departments of neurology (64.5%), neurosurgery (23.0%), and child neurology (12.5%) of Lombardy, the largest Italian Region (population, 9,000,000). Our main aim was to assess the penetration of correct diagnostic and clinicopharmacological information into routine practice. A detailed analysis and discussion are given to data concerning reasons for hospital admission (therapeutic adjustment accounting for 27.3%; diagnostic ascertainment, 53.8%); characteristics of the disease, in terms of duration, clinical manifestations, and pattern of seizures; associated disorders; prevalence and criteria for the use of instrumental diagnostic procedures (EEG, brain scan, computed tomography, etc.); pattern of prescriptions of anticonvulsant drugs at admission and at discharge, with particular emphasis on specific drug choices by specialty; prevalence of single-drug therapy (41% at admission and 47.0% at discharge) versus polytherapy; degree of correspondence between recommended and observed dosage regimens (undertreatment being a more common problem than excessive dosing); and reporting of side effects. Although some of the findings of some recent studies are confirmed, this report documents the feasibility of a regular audit program of the performance of an entire health care system in the treatment of epilepsy.