Rivista di patologia nervosa e mentale最新文献

A case of Sotos' syndrome or cerebral gigantism is described. The main clinical features of this syndrome are macrocrania, accelerated skeleton maturation and somatic development, cranio-facial dysmorfism, psychomotor retardation in 80% of the cases. Less frequently other skeleton abnormalities associated with neurological and/or endocrinological disorders are reported. In our patient the typical features of the syndrome are accompanied by several neurological signs (mental retardtion, strabism, hypothonia, motor impairment, seizures, CT scan abnormalities) and ophtalmological changes as optic disk pallor. The above mentioned range of symptoms should be considered as a direct consequence of the primary defect which characterizes the Sotos' syndrome. In our case the cerebral nervous system seems to be more specifically involved. Besides, important behavioural difficulties have emerged with regard to the double relation mother-daughter and in the familiar environment as well. For this reason we emphasize the necessity of evaluating and clearing up all problems which often arise in connection with various pathological conditions in childhood. This should be done in order to grant the families an appropriate support.

Nowadays diagnosis of neurosyphilis has become an infrequent event. Furthermore, the few patients studied have a clinical picture different from that described in the past. We report the clinical evolution of a patient with general paresis who suffered from delusions of grandeur, a clinical feature almost disappeared in these times. This mental disorder did not change after prolonged phenothyazines treatment. Among possible causes that made delusions of grandeur disappear in general paresis, remarkable improvements in therapy and major changes in social life should be considered.

A 23 years old man suffering from SSPE died 18 months after the onset of the disease. The clinical picture, EEG and immunological tests were typical for SSPE, and so was the anatomo-pathological investigation; the only difference was that the Cowdry type A inclusion bodies were absent. The peculiarity of this case consists in the fact that the disease appeared in an adult. In the literature we found very few cases of SSPE with such a late onset.

The results obtained with direct immunofluorescence techniques on normal, senile and Alzheimer's disease brains are reported. The antisera used were directed against C3c, IgG (gamma chain), IgG Fc., kappa and lambda light chains and anti-Ig (total). The brain samples were prepared in different ways: formalin-fixed and paraffin embedded; fresh frozen samples and alcohol fixed, paraffin-embedded samples. The images obtained with the different processing methods did not coincide. In order to obtain a more complete picture, we suggest the use of different methods on the same samples. In Alzheimer's disease brains, abundant but probably not monoclonal Ig antigenic determinants were found. Ig were found diffusely in the tissue, connected to amyloid (both in senile plaques and blood vessel walls), in glial cells and neurons. The significance of such data in relation to the genesis of brain amyloid are discussed.

Eight patients with Friedreich's ataxia and eight others with syndrome of spino-cerebellar degeneration received oral lecithin (21 g daily) for a six-month period. No relevant clinical change was note either during or soon after treatment. Statistical analysis was also irrelevant in the total number of patients. Similar results emerged when grouping the patients at the stage of the illness (stage II in contrast with stage III-IV). The outcome of therapeutical trials in literature is discussed in comparison with results.

Electrical responses of the single muscle fibre (SFER) by stimulation of the motor terminal nerve-endings have been investigated in normal subjects at various ages in vivo. Shape, latency, rise-time and interspike distance seem to be SFER's most interesting parameters of the functional organisation of the motor subunits and their terminal fractions. "Time" parameters of SFER are in agreement with the anatomo-functional characteristics of the excited tissues during ageing.

The Authors report a case of temporal arteritis which started with a sudden onset of bilateral amaurosis. They considered this case worth recording, on account of its unusual and striking way of manifestation. Moreover, the importance of an early diagnosis of the disease is underlined, since an adequate steroid therapy, carried out in time, often allows to avoid the serious complications which may arise, particularly blindness. Recent epidemiological studies which showed the elevated incidence of the disease in patients above the age of 50, underline the necessity of considering temporal arteritis as one of the diagnostical possibilities, even if the symptomatology is defective or unclear.

Two different psychological tests were applied to 40 patients affected by reversible cerebral ischemic attacks in order to evaluate the presence of depression or neurotic symptoms. 40 normal volunteers were used as a control group. While no statistical differences emerged in the mean values of the control tests, significant psychological impairments were observed in the group of patients. Such psychological disturbances were marked in the series with minor neurological deficits. Similar reactions were noted in subjects still employed and in patients submitted to carotid surgery. The authors emphasize the importance of psychological reactions following organic disease for a better therapy in reversible cerebrovascular disorders.

Six epileptic patients are described to whom the addition of Valproic Acid (VPA) to a previously unsatisfactory antiepileptic treatment caused a toxic encephalopathy. This was characterized by alterations of the state of consciousness in all patients a few days after the beninning of the treatment with VPA. These ranged from a marked drowsiness to coma and were often associated with gastrointestinal and neurological (ataxia, asterixis) symptoms. In all cases very high blood ammonia values were found and the EEGs showed a diffuse slowing down of the activity. After the discontinuation of the drug the toxic symptoms quickly ceased and ammonia values returned to the normal values. It is hypothesized that the interference of VPA on the metabolism of ammonia could play an important role in the pathogenesis of the VPA-induced toxic encephalopathy.

The authors present a family affected by benign chorea. It is a hereditary disease, characterized by dominant autosomic transmission, with incomplete penetrance. Genetic, clinical and evolutional features are reported. The choreic movements rise in the first twenty years of life but psychological deterioration, epilepsy or other neurological symptoms did not emerge. Pharmacological treatments did not help in such non progressive abnormal movements in our subjects. Computerized tomographic scan resulted negative in four subjects, examined in different phases of the disease. This confirms the hypothesis of a functional, rather than structural, lesion in this benign form of familial chorea.