Acute encephalopathy of the temporal lobes leading to m.3243A>G. When MELAS is not always MELAS

Elena Caldarazzo Ienco; Daniele Orsucci; Costanza Simoncini; Vincenzo Montano; Annalisa LoGerfo; Gabriele Siciliano; Ubaldo Bonuccelli; Michelangelo Mancuso

doi:10.1016/j.mito.2016.07.008

Acute encephalopathy of the temporal lobes leading to m.3243A>G. When MELAS is not always MELAS

Mitochondrion. 2016 Sep:30:148-50. doi: 10.1016/j.mito.2016.07.008. Epub 2016 Jul 21.

Authors

Elena Caldarazzo Ienco¹, Daniele Orsucci², Costanza Simoncini³, Vincenzo Montano⁴, Annalisa LoGerfo⁵, Gabriele Siciliano⁶, Ubaldo Bonuccelli⁷, Michelangelo Mancuso⁸

Affiliations

¹ Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy. Electronic address: elenacaldarazzoienco@gmail.com.
² Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy. Electronic address: orsuccid@gmail.com.
³ Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy. Electronic address: costy85@live.it.
⁴ Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy. Electronic address: v.montano89@gmail.com.
⁵ Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy. Electronic address: annalisalogerfo2@virgilio.it.
⁶ Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy. Electronic address: g.siciliano@med.unipi.it.
⁷ Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy. Electronic address: u.bonuccelli@med.unipi.it.
⁸ Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy. Electronic address: mancusomichelangelo@gmail.com.

PMID: 27453332
DOI: 10.1016/j.mito.2016.07.008

Abstract

MELAS syndrome (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) is a rare genetic condition whose differential diagnosis is often posed with juvenile stroke, but more rarely even with inflammatory/infectious encephalitis, causing diagnostic challenges. Here we report the case of a young man harbouring the m.3243A>G MELAS mutation presenting an acute onset mimicking the clinical and neuroimaging features of infective encephalitis.

Keywords: Encephalitis; MELAS; Temporal lobes.

Publication types

Case Reports

MeSH terms

DNA, Mitochondrial / genetics
Diagnosis, Differential
Encephalitis / pathology*
Humans
MELAS Syndrome / diagnosis*
Male
Middle Aged
Point Mutation
Temporal Lobe / pathology*

Substances

DNA, Mitochondrial