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Biomedical subjects

C A Tassinari

Publications and source records attributed to C A Tassinari.

At least 19 recordsLinked to original sources
PubMed1992

Coeliac disease, epilepsy, and cerebral calcifications. The Italian Working Group on Coeliac Disease and Epilepsy.

There have been anecdotal reports of an association between coeliac disease and epilepsy with cerebral calcifications that resemble those of the Sturge-Weber syndrome. A series of patients who had epilepsy with calcifications, in whom coeliac disease (CD) was incidentally observed, prompted us to study this association. 43 patients (15 male, age range 4.6-30.7 years) were selected from two series. 31 patients with cerebral calcifications of unexplained origin and epilepsy (series A) underwent intestinal biopsy. 12 patients with CD and epilepsy (series B) underwent computed tomography. Antibodies to gluten, folic acid serum concentrations, were measured, and HLA typing was done in most patients. 24 of the series A patients were identified as having CD on the basis of a flat intestinal mucosa (15/22 with a high concentration of serum antigluten), and 5 series B patients showed cerebral calcifications, giving a total of 29 cases with the combination of CD, epilepsy, and cerebral calcifications (CEC). In 27 of these CEC patients, calcifications were located in the parieto-occipital regions. Only 2 of the series A patients had gastrointestinal symptoms at the time of intestinal biopsy; most patients had recurrent diarrhoea, anaemia, and other symptoms suggestive of CD in the first 3 years of life. The epilepsy in CEC patients was poorly responsive to antiepileptic drugs. Gluten-free diet beneficially affected the course of epilepsy only when started soon after epilepsy onset. Cases of "atypical Sturge-Weber syndrome" (characterised by serpiginous cerebral calcifications and epilepsy without facial port-wine naevus) should be reviewed, and CD should be ruled out in all cases of epilepsy and cerebral calcifications of unexplained origin.

Adolescent↗
PubMed1992

Identical genetic locus for Baltic and Mediterranean myoclonus.

Genetic linkage analysis shows that Baltic and Mediterranean myoclonus, two forms of progressive myoclonus epilepsy, are closely linked to marker D21S113 on the long arm of chromosome 21. Baltic and Mediterranean myoclonus are most probably due to mutations of the same gene.

Alleles↗
PubMed1992

Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis.

We report the biochemical and molecular characterization of two new transthyretin (TTR) variants in two Italian families with hereditary amyloidosis. Both families presented neuropathy and cardiomyopathy but they differ in other clinical features. These TTR variants were previously detected by isoelectric focusing (IEF); one is a neutral TTR variant and the other one is basic. By protein and DNA analysis the neutral variant was found to have a substitution of an alanine for a threonine residue at position 49 (TTR Ala-49) of the polypeptide chain. The basic variant has a glutamine residue replacing glutamate at position 89 (TTR Gln-89).

Amino Acid Sequence↗
PubMed1992

Slowly progressive familial dementia with recurrent strokes and white matter hypodensities on CT scan.

We describe 2 normotensive sisters presenting slowly progressive dementia associated with acute or subacute focal neurological symptoms, unilateral or bilateral motor signs, and dysarthria. Their father, who died in the seventh decade, had a similar clinical picture. Computerized axial tomography (CT) scan of the head showed symmetrical hypodensities in the periventricular white matter and mild to moderate hydrocephalus. In these patients a diagnosis of Binswanger's disease was based on the clinical features supported by white matter changes on CT scan. Our study suggests that genetic factors may play a role in the etiology of Binswanger's disease.

Adult↗
PubMed1992

Celiac disease, posterior cerebral calcifications and epilepsy.

Ten patients (5 males) affected by epilepsy with cerebral calcifications of unknown etiology mainly located in the posterior regions were subjected to a battery of tests including an intestinal biopsy. Our aim was to establish whether or not the patients also suffered from celiac disease. Celiac diseases was found in 6 patients. This result and the individual cases reported in the literature suggest that this triad of diseases (celiac disease, posterior cerebral calcifications and epilepsy) are casually related. The same HLA phenotype was found in all 10 patients, i.e., including the cases without celiac disease, suggesting an underlying disorder of the immune system. Our results emphasize that particular attention should be paid to a search for celiac disease in all patients with epilepsy and posterior cerebral calcifications.

Adolescent↗
PubMed1992

Multiple lesions in cerebral white matter in two young adults with thoracic extramedullary tumours.

Cranial MRI showed multiple lesions in white matter that were thought to be consistent with multiple sclerosis in two young adults presenting with symptoms of progressive myelopathy. MRI of the cervicothoracic spine around one and two years after onset showed the myelopathy to be due to mid-thoracic tumours. The tumours (an extradural meningioma and intradural neuroma) were resected with complete resolution of myelopathy in one patient but no recovery in the other. Spinal MRI (or myelography) should be performed in young patients presenting with signs of progressive myelopathy even when cranial MRI shows a picture typical of multiple sclerosis.

Adult↗
PubMed1992

The electrical status epilepticus syndrome.

The authors review the clinical and electroencephalographic features of electrical status epilepticus during slow sleep (ESES) in children. The major points of debate regard the nosology and diagnosis of ESES. The relationship between ESES and the neuropsychological impairment is emphasized. It is concluded that ESES is a separate electro-clinical entity which deserves individual categorization.

Cerebral Cortex↗
PubMed1992

The neurophysiological features of benign partial epilepsy with rolandic spikes.

SEPs were performed in 44 children with benign partial epilepsy with rolandic spikes (BERS). High-amplitude mid- or long-latency SEPs were recorded in 17 patients (38%). These giant responses showed normal latency values but reached an exceedingly high amplitude (up to 200 microV). They showed the same reactivity characteristic of normal long-latency SEPs. In a 3-year follow-up study, the giant responses were shown to disappear in some patients and to shift from side to side in others. Our study demonstrates that giant SEPs are relatively common in BERS and give further support to the concept of a functional nature of rolandic foci.

Adolescent↗
PubMed1991

Vigabatrin.

Explore the source record for details and available documents.

Adolescent↗
PubMed1978

[Benign focal epilepsy and "electrical status epilepticus" during sleep (author's transl)].

The authors describe the electro-clinical state of four children having a type of epilepsy clinically characterized by rare partial motor seizures and frequent absences. From E.E.G. point of view they had focal (mainly frontal) and diffuse abnormalities. Such diffuse abnormalities became continuous during slow sleep, thus realizing an electrical status epilepticus. During such status partial subclinical seizures were recorded. At the onset such cases have electroclinical features resembling those observed in the form of epilepsy so-called "benign partial epilepsy of children with rolandic or mid-temporal foci". All cases, however, have behavioural problems (instability, desorientation) and decreased school performances. The epilepsy evolution, however, is favourable and such form should consequently be distinguished from the Lennox-Gastaut Syndrome.

Child↗
PubMed1977

Phenytoin encephalopathy as probable idiosyncratic reaction: case report.

A case of phenytoin (DPH) encephalopathy with increasing seizures and EEG and mental changes is described. Despite adequate oral dosage of DPH (5 mg/kg/daily) the plasma level was very low (2.8 microgramg/ml). The encephalopathy was probably an idiosyncratic and not toxic or allergic reaction. In fact the concentration of free DPH was normal, the patient presented a retarded morbilliform rash during DPH treatment, the protidogram was normal, and an intradermic DPH injection had no local effect. The authors conclude that in a patient starting DPH treatment an unexpected increase in seizures, with EEG and mental changes occurring simultaneously, should alert the physician to the possible need for eliminating DPH from the therapeutic regimen, even if plasma concentrations are low.

Adult↗
PubMed1977

[Partial epilepsy with complex symptoms and atrophic occipito-parietal lesions. Value of tachoencephalographic examination].

Eleven of the first 500 epileptics examined by axial tomography presented pseudo-porencephalic dilation (cavitary atrophy) of an occipital horn, associated or not with more extensive ventricular dilation. This lesion was found in 2.2% of all the epileptics and in 5% of the epileptics under the age of 20 in this group, a high incidence when compared with that of lesions of the same type located elsewhere. Clinical investigation and E.E.G. carried out on these 11 children showed that they were suffering from either hemiphegia or hemiparesis (8 out of 11 cases) and hemianopsia (7 out of 11 cases), and had serious epilepsy with partial fits (6 cases), usual temporal lobe epilepsy (5 cases), generalized secondary epilepsy (3 cases) or epilepsy defying classification (2 cases). These cases are compared with those recently published by Remillard, Ethier and Anderman. These authors consider that these cerebral lesions are the result of peri-natal thrombosis of the posterior cerebral artery. But in our group of cases, angiographic results do not appear to justify this claim.

Adolescent↗