Acta neurologica最新文献

A 30-year-old woman developed multiple cerebral infarctions. In the absence of other risk factors, thrombocythemia secondary to iron deficiency anemia due to polymenorrhoea was considered to underlie the cerebral infarctions. Platelet count was normalized after iron therapy. The importance of vigorous treatment of iron deficiency anemia in preventing complications of secondary thrombocythemia is emphasized.

A case is described of late-onset glycogenosis type II presenting with an isolated rise in serum transaminase levels. Histological, histochemical, ultrastructural and biochemical examinations performed on muscle biopsy showed the typical laboratory features of late-onset glycogenosis type II, which was diagnosed more than four years before the first appearance of disease-related signs and symptoms. A heterozygote status for the same defect was also demonstrated by enzyme assays in both parents, thus confirming the autosomal recessive mode of inheritance of the disorder. Even though an elevation in transaminases and other serum enzymes of possible muscle origin has been previously described as a diagnostic clue in some unsuspected muscular diseases in childhood, as far as we know no other patient with a sporadic form of glycogenosis type II has been identified when still completely asymptomatic. The possibility of silent primary metabolic diseases and myopathies should be carefully considered when evaluating children with persistently elevated serum transaminases, even in the absence of suggestive anamnestic, familial and physical findings, in order to obtain an early diagnosis and to provide an appropriate genetic counselling.

Thirteen patients suffering from Unilateral Spatial Neglect and 6 Right Brain Damaged Control Patients were tested on a line bisection task in order to verify peculiar patterns of error. Stimuli were arranged in order to avoid confounding the effects of line length and line position in the space. Two parameters of rightward displacement of setting point were used: 1) the distance of patient's setting point from actual line midpoint, and 2) the deduced left end-point of the line that patient took into account. Results showed that: 1) the rightward extension of lines did not lead to a consistent rightward displacement of setting point; 2) error significantly increased as lines extended more than 10 cm in the left hemispace; 3) the USN severity amplified the degradation of leftmost portion of stimuli until the deduced left endpoint of all space/length conditions was aligned on the left of patient's sagittal midplane. The interpretation of these results points to the particular arrangement of neurons directing attention on specific portions of the visual field.

Four patients aged from 20 to 48 years with transient mutism are presented: 3 patients underwent surgery for midline tumours of the mesencephalic-cerebellar region (medulloblastoma in two cases and pinealoblastoma in one), at times attached to one or both lateral recesses of the IV ventricle. One patient was hospitalized and treated for brain-stem ischemia. All patients developed mutism 48 to 72 hours after surgery; in the patient with brain-stem softening mutism appeared 72 hours after admission. All the patients had unimpaired consciousness and no deficits of lower cranial nerves. Speech, always normal in the first hours after surgery, was regained after a period of 6-16 weeks. Various hypotheses for this speech disorder are analyzed.

Antiphospholipid antibodies (lupus anticoagulant and anticardiolipin antibodies) are regarded as important risk factors for ischemic stroke and transient ischemic attacks in young subjects. In fact the interaction of these antibodies with phospholipid may impair the coagulation system at several steps, promoting thrombosis. A variety of therapeutic strategies including corticosteroids, immunosuppressive drugs, antiplatelet agents and anticoagulants have been prescribed in stroke patients with aPLs, but the efficacy of these drugs has not been established yet.

A 52-year-old patient presented with paroxystic episodes of generalized apraxia, anomia, agraphia and acalculia. The transient character of these attacks was supported by several neuropsychological examinations. Initially a tentative diagnosis of multiple TIA's was made. Treatment consisted of antiplatelet aggregation therapy. Three years later, however, paroxystic neuropsychological symptomatology occurred more frequently with an increase of severity. The patient was again seen and the differential diagnosis included epilepsy or a metabolic disturbance, in casu hepatic encephalopathy. A therapeutic trial with carbamazepine was started but the patient deteriorated further. He developed a flapping tremor and became stuporous. The blood ammonia was high and there were triphasic waves on the EEG. A probable diagnosis of hepatic encephalopathy was made and carbamazepine therapy was withdrawn. There was a good response on low protein diet and lactulose.

Forty-six patients with myasthenia gravis (MG) underwent transternal thymectomy between 1975 and 1991 and were observed over a long term follow up period (mean 6 years). Surgery was well tolerated and was followed in 32.6% of patients by remission of symptomatology. The severity of symptoms according to the Osserman scale was significantly reduced: slight forms of myasthenia increased soon after thymectomy more frequently than moderate and severe forms. Response to thymectomy at 3 months, according to the Hankins scale, was found to be positive (remission or amelioration of symptoms) in 31/41 patients, and worse in patients with thymoma. Probability of clinical remission and death were both significantly correlated with clinical response at three months after thymectomy. No other preoperatory clinical factor (onset age, sex, initial severity of MG, interval from symptom onset to thymectomy) was found to predict the response to treatment. Preoperatory mediastinic CT had a good reliability (> 85%) in diagnosing thymona, but was rarely able to distinguish between thymic hyperplasia and atrophy.

In absence of careful controlled trials, heparin therapy of ischemic stroke is based today on the clinical experience and personal belief of the physicians. Moreover, the incomplete knowledge of physiopathogenesis of ischemic stroke adds further confusion on those nosographic conditions treatable with heparin. This work aims to report the opinions prevalent in the literature, together with personal convictions, so to supply the reader with a complete view of the scientific discussion on this argument.

A mortality study on Multiple Sclerosis (MS) was carried out in the province of Ferrara, Northern Italy, over the years from 1968 to 1989 (mean population 382,379 inhabitants) to outline the temporal trend of the disease in the residing population that can be regarded as a representative sample of the caucasians of Northern Italy. Given the difficulties in performing retrospective incidence studies over long time periods, the mortality rate was used as an indirect indicator of MS occurrence. Through a review of mortality tabulations with 340-345 ICD code and an intensive survey of all the MS cases, with successive check of the deceased ones at the general register offices of the study area communes, 56 MS patients who had lived and died in the province of Ferrara in the period 1968-1989 were selected with an average crude death rate of 0.67 per 100,000 per year (95% confidence interval: 0.51-0.87), 0.55 per 100,000 if adjusted to the Italian population. The death rate was stable over the considered time period with only a slight but insignificant increase in the last years of the survey. No differences were found among the rates from the 5 Local Health Units (USLs) in which the study territory is subdivided. The highest age-specific death rates were in the fifth and sixth decade of life and the average duration was 21.17 +/- 11.05 years. The results are consistent with a relatively stable MS risk in the population of the province of Ferrara and a homogeneous occurrence of the disease in the study territory.

The authors report a case of urticarioid manifestation in a patient with imported pernicious cerebral malaria. They discuss the pathogenetic mechanisms of the cutaneous manifestation and point out the clinical importance of their observation.