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 journalArticle

6 Citations (Scopus)

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

Fingerprint

Leigh Disease
Deafness
Ataxia
Demyelinating Diseases
Cerebellum
Brain Stem
Histology
Necrosis
Brain
Neuropathy ataxia and retinitis pigmentosa

Keywords

  • Juvenile form
  • Leigh syndrome
  • Neuropathology
  • Protracted course

ASJC Scopus subject areas

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

Cite this

Juvenile Leigh syndrome with protracted course presenting as chronic sensory motor neuropathy, ataxia, deafness and retinitis pigmentosa : A clinicopathological report. / Malandrini, Alessandro; Palmeri, Silvia; Maria Fabrizi, Gian; Marcello Villanova, Villanova; Berti, Gianna; Salvadori, Claudio; Gardini, Giorgio; Motti, Luisa; Solimé, Franco; Carlo Guazzi, Gian.

In: Journal of the Neurological Sciences, Vol. 155, No. 2, 05.03.1998, p. 218-221.

Research output: Contribution to journalArticle

Malandrini, A, Palmeri, S, Maria Fabrizi, G, Marcello Villanova, V, Berti, G, Salvadori, C, Gardini, G, Motti, L, Solimé, F & Carlo Guazzi, G 1998, 'Juvenile Leigh syndrome with protracted course presenting as chronic sensory motor neuropathy, ataxia, deafness and retinitis pigmentosa: A clinicopathological report', Journal of the Neurological Sciences, vol. 155, no. 2, pp. 218-221. https://doi.org/10.1016/S0022-510X(98)00014-8
Malandrini, Alessandro ; Palmeri, Silvia ; Maria Fabrizi, Gian ; Marcello Villanova, Villanova ; Berti, Gianna ; Salvadori, Claudio ; Gardini, Giorgio ; Motti, Luisa ; Solimé, Franco ; Carlo Guazzi, Gian. / Juvenile Leigh syndrome with protracted course presenting as chronic sensory motor neuropathy, ataxia, deafness and retinitis pigmentosa : A clinicopathological report. In: Journal of the Neurological Sciences. 1998 ; Vol. 155, No. 2. pp. 218-221.
@article{375f7e12cd434cb8bc91a46650f28951,
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.",
keywords = "Juvenile form, Leigh syndrome, Neuropathology, Protracted course",
author = "Alessandro Malandrini and Silvia Palmeri and {Maria Fabrizi}, Gian and {Marcello Villanova}, Villanova and Gianna Berti and Claudio Salvadori and Giorgio Gardini and Luisa Motti and Franco Solim{\'e} and {Carlo Guazzi}, Gian",
year = "1998",
month = "3",
day = "5",
doi = "10.1016/S0022-510X(98)00014-8",
language = "English",
volume = "155",
pages = "218--221",
journal = "Journal of the Neurological Sciences",
issn = "0022-510X",
publisher = "Elsevier",
number = "2",

}

TY - JOUR

T1 - Juvenile Leigh syndrome with protracted course presenting as chronic sensory motor neuropathy, ataxia, deafness and retinitis pigmentosa

T2 - A clinicopathological report

AU - Malandrini, Alessandro

AU - Palmeri, Silvia

AU - Maria Fabrizi, Gian

AU - Marcello Villanova, Villanova

AU - Berti, Gianna

AU - Salvadori, Claudio

AU - Gardini, Giorgio

AU - Motti, Luisa

AU - Solimé, Franco

AU - Carlo Guazzi, Gian

PY - 1998/3/5

Y1 - 1998/3/5

N2 - 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.

AB - 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.

KW - Juvenile form

KW - Leigh syndrome

KW - Neuropathology

KW - Protracted course

UR - http://www.scopus.com/inward/record.url?scp=17144463972&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=17144463972&partnerID=8YFLogxK

U2 - 10.1016/S0022-510X(98)00014-8

DO - 10.1016/S0022-510X(98)00014-8

M3 - Article

C2 - 9562272

AN - SCOPUS:17144463972

VL - 155

SP - 218

EP - 221

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

SN - 0022-510X

IS - 2

ER -