Archives de pediatrie : organe officiel de la Societe francaise de pediatrie · 2007
[Diagnosis of a Friedreich's ataxia: contribution of electrophysical explorations].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Malliopoulos X, Maisonneuve B, Vassel C
Аннотация
UNLABELLED: The monitoring of scoliosis treatment can lead to discover its cause.
CASE REPORT: A 16-year-old patient was allowed in Center of Functional Rehabilitation for intensive orthopaedic treatment of a severe scoliosis. Electrophysiological explorations carried out within the framework of the monitoring of this treatment detected an axonal neuropathy with sensitive prevalence, whose association with clinical signs made it possible to diagnose Friedreich's disease, then confirmed by molecular biology.
CONCLUSION: Electrophysiological examination is useful in a Rehabilitation Center within the framework of the monitoring of the treatment proposed, more especially as it can make it possible to direct a diagnosis.
CASE REPORT: A 16-year-old patient was allowed in Center of Functional Rehabilitation for intensive orthopaedic treatment of a severe scoliosis. Electrophysiological explorations carried out within the framework of the monitoring of this treatment detected an axonal neuropathy with sensitive prevalence, whose association with clinical signs made it possible to diagnose Friedreich's disease, then confirmed by molecular biology.
CONCLUSION: Electrophysiological examination is useful in a Rehabilitation Center within the framework of the monitoring of the treatment proposed, more especially as it can make it possible to direct a diagnosis.