DNA end labelling (TUNEL) in a 3 year old girl with Leigh syndrome and prevalent cortical involvement
- P Formichi1,2,
- A Malandrini1,
- C Battisti1,
- F M Santorelli4,
- S Gambelli1,
- S A Tripodi3,
- G Berti1,
- C Salvadori1,
- A Tessa4,
- A Federico1
- 1Department of Neurological and Behavioural Sciences, Section of Neurological Sciences, University of Siena, Siena, Italy
- 2Anni Verdi Association, Rome, Italy
- 3Department of Pathology, University of Siena, Siena, Italy
- 4Molecular Medicine, IRCCS-Bambino Gesù Children’s Hospital, Rome, Italy
- Correspondence to: Dr A Malandrini Department of Neurological and Behavioural Sciences, Viale Bracci 2, 53100 Siena, Italy; malandriniunisi.it
- Received 8 April 2003
- Accepted 12 October 2003
- Revised 6 October 2003
Abstract
Neuropathological study of a 3½ year old girl with familial Leigh syndrome who also harboured a rare ATPase gene mutation disclosed extensive and unusual lesions in the cerebral cortex, despite a typical histological pattern. Early lesions in the periacqueductal grey matter of the brainstem, characterised by capillary congestion and initial regressive neuronal changes, were also observed, along with TUNEL reactive neuronal cells showing morphological signs typical of apoptosis in cortical areas with neuronal cell loss. The finding of lesions in atypical brain areas and for the first time, very early regressive neuronal phenomena, suggest that early changes in crucial brain areas may have been a cause of death. The abundance of TUNEL positive nuclei in cortical areas in the present case suggests that the apoptosis may be involved in the mechanism of neuronal death in Leigh syndrome.
- LS, Leigh syndrome
- MILON, mitochondrial late onset neurodegeneration
- TUNEL, terminal deoxynucleotidyl transferase mediated dUTP nick end labelling
Footnotes
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Competing interests: none declared
