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Biomedical subjects

O Dulac

Publications and source records attributed to O Dulac.

At least 109 records · Page 6Linked to original sources
PubMed1994

Reappraisal of Rasmussen's syndrome with special emphasis on treatment with high doses of steroids.

Eight patients with Rasmussen's syndrome and epilepsia partialis continua were treated with high doses of steroids, including pulses of methylprednisolone and prednisone in decreasing doses. Three patients exhibited clinical, radiological, or histological evidence of bilateral involvement. Epilepsy and focal deficit decreased within six months in seven patients. Only five patients, in whom steroid treatment had begun less than 15 months after the onset of epilepsia partialis continua, experienced a lasting effect although they had periodic episodes of transient relapse. Treatment with high doses of steroids seems advisable during the first year after onset of epilepsia partialis continua, before hemiplegia has developed and in cases with bilateral involvement.

Adolescent↗
PubMed1994

Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene.

Neuronal migration disorders can now be recognised by MRI. This paper reports two families in which the mothers had subcortical laminar heterotopia and four of their children had either similar heterotopia (two girls) or severe pachygyria or lissencephaly (two boys). Laminar heterotopia was more evident on MRI T2 weighted images. The patients had mild to severe epilepsy and mental retardation depending on the extent of cortical abnormalities. In these families, subcortical laminar heterotopia, pachygyria, and lissencephaly seem to share the same X linked or autosomal dominant gene. No chromosomal abnormalities, especially of chromosome 17, could be identified. For appropriate genetic counselling of the family of a child with lissencephaly or subcortical laminar heterotopia, MRI should be performed in parents or siblings with mental retardation or epilepsy.

Adolescent↗
PubMed1994

Medical treatment of Rasmussen's syndrome (chronic encephalitis and epilepsy): effect of high-dose steroids or immunoglobulins in 19 patients.

We treated 19 patients with Rasmussen's syndrome (chronic encephalitis and epilepsy)--a rare progressive disorder of unknown etiology causing focal epilepsy, hemiparesis, and intellectual deterioration--with intravenous immunoglobulins, high-dose steroids, or both, to control seizures and improve the end point of the disease. Ten of 17 patients receiving steroids, and eight of nine patients receiving immunoglobulins, had some reduction of seizure frequency in the short term. Improvement in hemiparesis was slight. The effect of these drugs in ameliorating the end point of the disease in the long term remains unknown, and further multicenter studies with standardized protocols are warranted.

Adolescent↗
PubMed1994

Infantile spasms: a pathophysiological hypothesis

Clinical and electroencephalogram (EEG) observations permit a hypothesis for the pathophysiology of infantile spasms. The triggering area(s) for spasms is probably cortical. Diffuse hyperexcitability of the immature cortex and/or diffusion of the epileptic process from a focal abnormality would allow development of hypsarrhythmia. Cortical maturation from posterior to anterior might account for the location of causative focal abnormalities. In cryptogenic West syndrome, the predominant pathophysiologic process may be diffuse cortical hyperexcitability, explaining the severe developmental deterioration at the onset of spasms. In symptomatic West syndrome with focal pathology, the initial deterioration is often less striking, suggesting that the predominant effect is diffusion of the epileptic process. The pattern of eventual cognitive deficits follows a similar pattern.

Journal Article↗
PubMed1993

Genetic exclusion of apo-B gene in recessive abetalipoproteinemia.

Abetalipoproteinemia is a recessive genetic disorder of unknown origin, which is characterized by absence of circulating apo-B-containing lipoproteins, malabsorption of intestinal fat, and degenerative neurological and retinal lesions. In this study, four families were analysed for genetic linkage between the abetalipoproteinemia phenotype and the apo-B genotype determined from polymorphisms of XbaI, MsPI, EcoRI and PvuII restriction sites and that of the 3'-minisatellite of the apo-B gene. The results definitively exclude mutation of the apo-B gene as a causal factor of abetalipoproteinemia in three families. Consanguinity of the parents in the fourth family made genotyping less conclusive.

Abetalipoproteinemia↗
PubMed1993

Verbal and visual memory impairment in children with epilepsy.

Verbal and visual memory performances were evaluated in 60 epileptic children and 60 normal control subjects with Signoret's Memory Battery scale. Eighteen patients had idiopathic generalized epilepsy and 42 had partial epilepsy, mostly of the temporal (n = 28) and frontal (n = 10) lobes. Memory scores were statistically lower in epileptics than in controls and significant differences were found within each group: (1) children with idiopathic generalized epilepsy had a slight depression of visual memory; (2) memory disorder was more severe in partial epilepsy; and (3) children with left and right temporal lobe epilepsy had marked memory deficits related to hemispheric specialization.

Adolescent↗
PubMed1993

The Lennox-Gastaut syndrome.

One of the most challenging areas in nosology is in the field of severe generalized epilepsy of early childhood. This is certainly true in the case of Lennox-Gastaut syndrome (LGS), an age-related epileptogenic encephalopathy which comprises several types of generalized seizures including tonic seizures, atypical absence seizures and frequent status epilepticus. EEG shows generalized slow spike waves, and as the disease progresses, cognitive functions deteriorate. LGS is listed in the 1989 classification of the International League Against Epilepsy alongside epilepsy with myoclonic astatic seizures and West's syndrome. A number of variants or atypical forms have been proposed. As a result, differential diagnosis presents a major challenge and includes specific generalized epilepsies, i.e., metabolic or inflammatory; secondarily generalized epilepsies, i.e., those arising from the frontal lobe; and severe forms of idiopathic generalized epilepsy, i.e., Doose syndrome. Antiepileptic drug (AED) treatment of LGS has been disappointing. Results obtained from anterior callosotomy have been promising, but only a small number of patients have been evaluated. Although the syndrome is rare, the severe nature and intractability of LGS emphasizes the need for the development of specific AEDs which would completely modify the quality of life for these patients.

Anticonvulsants↗
PubMed1993

[Biotinidase deficiency. Progressive encephalopathy curable with biotin].

BACKGROUND: Multiple carboxylase deficiency is a rare cause of progressive encephalopathy. There are 2 forms: the neonatal-onset form of holocarboxylase synthetase deficiency and the late-onset form of biotinidase deficiency. This report describes a case of biotinidase deficiency. CASE REPORT: A boy began to have repeated convulsions at the age of 3 months. The brain CT-scan and MRI were normal and the patient was given valproic acid and carbamazepine. Progressive neurological degradation was noted from the 4th month of life and myoclonic seizures began 2 months later. At admission, the patient had seizures, myoclonic fits and hypotonia. He had a skin rash but no alopecia. Biochemical investigation showed lactic acidosis, mainly in the CSF, moderate hyperammonemia and hyperalaninemia. Chromatography of organic acids showed several abnormal peaks suggesting biotinidase deficiency. The patient was given biotin (20 mg/day) orally. This treatment produced a pronounced, rapid, clinical and biochemical improvement and antiepileptic drugs were discontinued. There was no developmental delay at the age of 18 months. CONCLUSION: The clinical findings of neurologic abnormalities and dermatological signs led to the diagnosis of a metabolic disease that, fortunately, can be treated. This disease could benefit from a mass neonatal screening program.

Amidohydrolases↗
PubMed1993

The potential for increasing seizure frequency, relapse, and appearance of new seizure types with vigabatrin.

Although generally effective, various antiepileptic drugs have been reported on occasion to increase seizure frequency, result in seizure relapse, or elicit new types of seizures. Some seizure types and epilepsy syndromes appear more prone than others to exacerbation by a given drug. Vigabatrin is rarely associated with seizure worsening, and then mainly in patients with resistant generalized epilepsies.

Aminocaproates↗
PubMed1992

Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20.

Benign familial neonatal convulsions (BFNC) is an idiopathic form of epilepsy beginning within the first six months of life. Its genetic origin and autosomal dominant mode of inheritance have been suspected since its first description. Recently, the BFNC gene has been localised within chromosome 20q in one large pedigree. For the first time, we confirm here (with D20S19 and D20S20) the close linkage of BFNC to chromosome 20q in six French pedigrees. In addition, the existence in these families of several cases of febrile convulsions (FC), another epileptic syndrome with an autosomal dominant genetic component, led us to study the possibility of a genetic background identical to BFNC. Our results suggest the existence of different susceptibility genes for BFNC and FC.

Blotting, Southern↗
PubMed1992

Early diagnosis of severe myoclonic epilepsy in infancy.

Of 329 epileptic patients referred in a six year period with the first seizure occurring in the first year of life, 20 met the following criteria: generalized seizures excluding infantile spasms, myoclonic, tonic or absence seizures, at least one afebrile seizure, normal development prior to the first seizure, normal CT scan, and no etiology. Seventeen of these 20 patients developed the full pattern of severe myoclonic epilepsy in infancy (SMEI). This syndrome was recognizable from the second or third seizure in the first year of life, although epileptiform EEG abnormalities were lacking until the age of 11 to over 30 months. Therefore, based on the clinical pattern, the diagnosis of SMEI can be made with quite good reliability by the end of the first year of life.

Electroencephalography↗
PubMed1992

Treatment of pediatric epilepsies with gamma-vinyl GABA (vigabatrin).

Three large studies, all including more than 60 children, on the efficacy on gamma-vinyl GABA (vigabatrin, GVG) in the treatment of childhood epilepsy have been reviewed. On the basis of these and other studies, we conclude that (a) GVG is a promising drug for the treatment of childhood epilepsy, (b) GVG is effective both in partial and generalized epilepsies, (c) GVG seems to be effective in the treatment of symptomatic infantile spasms, (d) no clear dose-response relationship has been demonstrated, (e) a dose of 40-80 mg/kg/day is recommended, and (f) although tolerance is excellent, hyperactivity seems to occur more frequently in children than in adults.

Age Factors↗
PubMed1992

Changes in regional cerebral blood flow during brain maturation in children and adolescents.

Regional cerebral blood flow (rCBF) was studied by SPECT using 133Xe in 42 children, aged 2 days to 19 years, considered as neurologically normal. rCBF was measured on cortical regions and on the cerebellum and thalamus. Curves for reference values and standard deviation were defined for each region. At birth, cortical rCBFs were lower than those for adults; after birth they increased until 5 or 6 yr of age to values 50%-85% higher than those for adults and thereafter decreased, reaching adult levels between 15 and 19 yr. Neonatal values of rCBF on cerebellum and thalamus were slightly higher than adult level, but not significantly; after age 1, they followed the common pattern for cortical curves. When rCBFs were expressed in percent global CBF, they were lower at birth than adult levels in the cortex, then increased and reached a plateau corresponding to the adult value before the second year of age. The time needed to reach normal adult values differed for each cortical region. The shortest time was found on the primary cortex and the longest on the associative cortex. Cognitive development of the child seems to be related to changes in blood flow of the corresponding brain regions.

Adolescent↗