Résumé :
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Introduction Mitochondrial cytopathies represent very heterogonous a group of affections related to a dysfunction of the respiratory chain of mitochondrion. Their expression is polymorphic and pluristemic. The progressive external ophtalmoplegia is one of the most characteristic symptoms and may be the onset clinical presentation. Its association with a ataxiant neuropathy and a dysarthria defines a new entity: the SANDO syndrome (sensory ataxic neuropathy with dysarthria and ophtalmoplegia). Case report We report a new observation, a 21 year old young patient with first degree consanguinity, presented ataxia with axonal sensory-motor neuropathy and sensitive prevalence at the ENMG, associated ophtalmoplegia, a ptosis and a dysarthria evolving since the 7 years age. Résultats Serum index Lactate - Pyruvate is increased and the neuromuscular biopsy revealed presence of many Red Ragged Fibers (RFF). Brain MRI was normal. The diagnostic of a mitochondriopathy type SANDO was the most probable. Molecular studies in genomic DNA (POLG gene) found homozygote mutation type: 1789 C>T. Discussion The SANDO syndrome is a rare mitochondriopathy currently descripted (only 6 cases are brought back to our knowledge). It's characterized clinically by the association of progressive external ophtalmoplegia with dysarthria and ataxiant neuropathy. Conclusion The role of nuclear DNA mutation to determine mitochondrial dysfunction is not completely known.
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