title: Acute encephalopathy of the temporal lobes leading to m.3243A>G. When MELAS is not always MELAS.
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.
authors.affiliation: Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy. Electronic address: elenacaldarazzoienco@gmail.com.
authors.forename: Elena
authors.initials: E
authors.lastname: Caldarazzo Ienco
authors.affiliation: Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy. Electronic address: orsuccid@gmail.com.
authors.forename: Daniele
authors.initials: D
authors.lastname: Orsucci
authors.affiliation: Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy. Electronic address: costy85@live.it.
authors.forename: Costanza
authors.initials: C
authors.lastname: Simoncini
authors.affiliation: Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy. Electronic address: v.montano89@gmail.com.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Montano
authors.affiliation: Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy. Electronic address: annalisalogerfo2@virgilio.it.
authors.forename: Annalisa
authors.initials: A
authors.lastname: LoGerfo
authors.affiliation: Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy. Electronic address: g.siciliano@med.unipi.it.
authors.forename: Gabriele
authors.initials: G
authors.lastname: Siciliano
authors.affiliation: Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy. Electronic address: u.bonuccelli@med.unipi.it.
authors.forename: Ubaldo
authors.initials: U
authors.lastname: Bonuccelli
authors.affiliation: Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy. Electronic address: mancusomichelangelo@gmail.com.
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Mancuso
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics; D003937:Diagnosis, Differential; D004660:Encephalitis / Q000473:pathology*; D006801:Humans; D017241:MELAS Syndrome / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D013702:Temporal Lobe / Q000473:pathology*
chemical_list: D004272:DNA, Mitochondrial
keywords: Encephalitis; MELAS; Temporal lobes