[Role of the electrophysiologic examination in the diagnosis of Bassen-Kornzweig syndrome].
An autosomal recessive disorder, abetalipoproteinemia or Bassen-Kornzweig disease, concerning two sisters are described. This disorder, clinically similar to Friedreich ataxia, should be examined by electrophysiological and laboratory procedures because of the possibility of treatment by high doses of vitamin A and E. The routine electrophysiological examination of the two sisters revealed a degenerative spinocerebellar and peripheral nervous process which confirmed the damage of large myelinated fibers, as reported in the literature: neurogenic muscular atrophy of distal muscles, polyphasic motor unit potentials, moderately decrease of lower motor and sensory nerve conduction rates, and reduced amplitude of evoked responses in sensory nerves and muscles. We stress out the diagnostic value of the heterogenous conduction decrease in the distal motor fibers, signs of processes of demyelination or distal regeneration.
Hirsch
E
E
Clinique neurologique, CHU Strasbourg, Hospices Civils, France.
Simon
M
M
Villemin
B
B
Coumaros
D
D
Warter
J M
JM
Jesel
M
M
D000012:Abetalipoproteinemia / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D009132:Muscles / Q000473:pathology / Q000503:physiopathology; D009431:Neural Conduction; D010523:Peripheral Nervous System Diseases / Q000209:etiology* / Q000503:physiopathology; D013132:Spinocerebellar Degenerations / Q000209:etiology* / Q000503:physiopathology
Apport de l'examen électrologique au diagnostic de maladie de Bassen-Kornzweig. A propos de deux observations.