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 language | English |
|---|---|
| Pages (from-to) | 218-221 |
| Number of pages | 4 |
| Journal | Journal of the Neurological Sciences |
| Volume | 155 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Mar 5 1998 |
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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 journal › Article
}
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 -