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Juvenile Leigh syndrome with protracted course presenting as chronic sensory motor neuropathy, ataxia, deafness and retinitis pigmentosa: a clinicopathological report

1998; Elsevier BV; Volume: 155; Issue: 2 Linguagem: Inglês

10.1016/s0022-510x(98)00014-8

1878-5883

Alessandro Malandrini, Silvia Palmeri, Gian Maria Fabrizi, Marcello Villanova, Gianna Berti, Claudio Salvadori, Giorgio Gardini, Luisa Motti, F. Solimè, Gian Carlo Guazzi,

Ion channel regulation and function

We herein describe a male patient who died at 37 years of age, after having suffered from a slowly progressive syndrome of chronic sensory motor neuropathy, deafness, retinitis pigmentosa and ataxia. The neuropathological study showed symmetric areas of necrosis and demyelination affecting the cerebellum and brainstem. The type of lesion was consistent with the characteristics of Leigh Syndrome. On the basis of the histology of the lesions, we believe that they appeared only a few months before the death of the patient. We underline the atypical clinical picture and suggest that, in certain cases, brain MRI may not be a reliable diagnostic tool.