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

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

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)218-221
Number of pages4
JournalJournal of the Neurological Sciences
Volume155
Issue number2
DOIs
Publication statusPublished - Mar 5 1998

Keywords

  • Juvenile form
  • Leigh syndrome
  • Neuropathology
  • Protracted course

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Developmental Neuroscience
  • Neurology
  • Neuroscience(all)

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