title: Juvenile Leigh syndrome with protracted course presenting as chronic sensory motor neuropathy, ataxia, deafness and retinitis pigmentosa: a clinicopathological report.
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.
authors.affiliation: Institute of Neurological Sciences, University of Siena, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: S
authors.initials: S
authors.lastname: Palmeri
authors.forename: G M
authors.initials: GM
authors.lastname: Fabrizi
authors.forename: M
authors.initials: M
authors.lastname: Villanova
authors.forename: G
authors.initials: G
authors.lastname: Berti
authors.forename: C
authors.initials: C
authors.lastname: Salvadori
authors.forename: G
authors.initials: G
authors.lastname: Gardini
authors.forename: L
authors.initials: L
authors.lastname: Motti
authors.forename: F
authors.initials: F
authors.lastname: Solimé
authors.forename: G C
authors.initials: GC
authors.lastname: Guazzi
mesh_terms: D000328:Adult; D001259:Ataxia / Q000473:pathology*; D001921:Brain / Q000473:pathology; D001933:Brain Stem / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D003711:Demyelinating Diseases / Q000473:pathology; D017809:Fatal Outcome; D015417:Hereditary Sensory and Motor Neuropathy / Q000473:pathology*; D006801:Humans; D007888:Leigh Disease / Q000473:pathology*; D008297:Male; D012174:Retinitis Pigmentosa / Q000473:pathology*