Titre :
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Sensory ataxic neuropathy with dysarthria and ophtalmoplegia mitochondriopathy (abstract : congrès international de Myologie, 2005)
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contenu dans :
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Auteurs :
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Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ;
Rafai M ;
Bourezgui M ;
Sibai M ;
Gam I ;
El Moutawakil B ;
Boulaajaj FZ ;
Slassi I
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Type de document :
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Article
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Année de publication :
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2005
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Pages :
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p. 182
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Langues:
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Anglais
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Mots-clés :
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biopsie musculaire
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cerveau
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colloque
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consanguinité
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dysarthrie
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électromyographie
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étude de cas
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fibre rouge mitée
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IRM
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maladie du système nerveux
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muscle squelettique
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myopathie mitochondriale
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ophtalmoplégie externe progressive
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ptosis
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SANDO
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Résumé :
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Communication n° 617 Mitochondrial cytopathies represent very heterogeneous a group of affections related to a dysfunction of the respiratory chain of mitochondrion. Their expression is polymorphic and plurisystemic. The progressive external ophtalmoplègie is one of the most characteristic symptoms. Its assotiation with a ataxiante neuropathy and a dysarthria defines a new entity: the SANDO syndrom. We report a new observation, it acts of a 21 year old young patient with concept of consanguinity first degree, followed for assessment of ataxia to walk with axonal sensitivo-motor neuropathy and sensitive prevalence at the ENMG, associated a ophtalmoplègie, a ptosis and a dysarthrie evolving since the 7 years age. The study of the serum index lactate-pyruvate is increased and the neuro-muscular biopsy revealed the presence of many Red Ragged Fibres (RRF) the encephalic RMN was normal. The diagnosis of a mitochondriopathy type SANDO was most probable. The search for a délétion of the mitochondrial DNA is in courses .The SANDO syndrom or Sensory Ataxic Neuropathy Dysarthria and Ophtalmoplegia is a rare mitochondriopathy currentely descripted (only 6 cases are brought back to our knowledge) It is characterized on the clinical level by the association of a progressive external ophtalmoplègie with a dysarthrie and a ataxiante neuropathy in the foreground and on the genetic level by the persistence of many interrogations when in the mode of transmission and the causal genic abnormality.
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