[Lafora's disease presenting with progressive myoclonus epilepsy]. / Epilepsie myoclonique progressive révélant une maladie de Lafora.

Lafora's disease is a progressive myoclonus epilepsy and must be evocated if myoclonus, occipital seizures and progressive cognitive impairment are present. We report the case of a 14-year-old boy who suffered from several occipital seizures and two generalised seizures. The diagnosis of Lafora's disease was made six years after these inaugural symptoms because of occurrence of myoclonus, aggravation of the epilepsy with paharmacoresistance and psychic deterioration. Axila sweat gland duct biopsy was performed to conclude to the disease. A mutation was found on the gene EPM2A. Lafora's disease is a genetic autosomal-recessive pathology. Two genes have been recently identified. They code for two proteins, malin and laforin, involved in glycogen metabolism in the cellular endoplasmic reticulum. Mutations of these genes are responsible for intracytoplasmic polyglucosan inclusions called Lafora bodies and pathognomonic of the disease.

[Contribution of ecological evaluation of executive disorders in multiple sclerosis]. / Apport de l'évaluation écologique des troubles exécutifs dans la sclérose en plaques.

INTRODUCTION: Multiple sclerosis (MS) is a major cause of neurological disability among young adults. The cognitive disorders are the second cause of alteration of quality of life after physical handicap and are often responsible for loss of social-occupational adaptability. The prevalence of cognitive disorders is 40 to 65%. The alteration of executive functions predominates whereas instrumental functions are generally preserved. The assessment of these disorders is often underestimated by the usual battery of neuropsychological tests. However, the link between psychometric results and executive difficulties of daily life is uncertain. OBJECTIVES: To evaluate the sensitivity of an ecological test compared to standard psychometric tests in assessment of executive disorders in MS. METHODS: Twenty subjects with clinically definite MS were matched for age, sex and pre-morbid intellectual level with control subjects. A battery of neuropsychological and ecological tests was applied to all subjects. The performances on these tests formed a global score of executive function (SFE). The "paper and pencil" multiple errands test was used as the ecological test to examine planning and goal-oriented behavior. We also assessed fatigue and depression with the Fatigue Severity Scale and the Beck Depression Inventory. RESULTS: There was no significant differences between MS patients and controls in neuropsychological executive tests, except for verbal fluencies (p=0.01). The performances were significantly decreased in the MS group for the multiple errands test (p=0.01). 75% of MS subjects have a pathological score for this test. There was a significant link between the performances with this test and SFE (p=0.009). CONCLUSIONS: Executive disorders are underestimated in MS. However, we suggest that an ecological approach is more reliable than standard neuropsychological tests to estimate the cognitive difficulties in daily life in MS subjects. The results of our study favor further research to ascertain the usefulness of ecological assessment in MS.

[Finnish amyloid polyneuropathy in a French patient]. / Une amylose finlandaise chez une patiente française.

INTRODUCTION: Finnish amyloid variety is a rare familial amiloidosis polyneuropathy essentially observed in Finland. It concerns about six hundred people in the world in which five hundred reside in Finland. OBSERVATION: We report a case of a 58-year-old French woman with a 10-year history of lattice cornea dystrophy. She consulted in January 2004 for impaired swallowing, facial paralysis principally of the right superior territory and symptoms of arthritis which had developed a few months earlier. Observation revealed facial cutis laxa, tongue amyotrophy and some fasciculation. Electroneuromyography showed chronic neurogenic involvement of the facial muscles. Limbs and the sympathetic neuronal system were free of involvement. Pathological examination revealed areas of peri vascular amiloid deposits. Molecular biology confirmed the diagnosis of Finnish amiloidosis: substitution of aspartic acid by tyrosine in the 187 codon in the 9th chromosome (gelsoline gene). This mutation has been previously found in Denmark and the Czech Republic. CONCLUSION: Finnish amiloidosis is a familial polyneuropathy characterized by an association of cornea lattice dystrophy, cutis laxa and a chronic neurogenic involvement of the cranial nerves. Two mutations are known. Life expectancy is not affected, but quality of life is altered.