Download PDF
CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2022; 80(05): 543-544
DOI: 10.1590/0004-282X-ANP-2021-0422
IMAGES IN NEUROLOGY

Proton spectroscopy: a simple and useful tool in the investigation of mitochondrial disease

Espectroscopia de prótons: uma ferramenta simples e útil na investigação de doença mitocondrial
Daniel Venturino NASSIF 
1   Hospital Federal dos Servidores do Estado, Serviço de Neurologia, Rio de Janeiro, RJ, Brazil.
,
Luiz Felipe Rocha VASCONCELLOS 
1   Hospital Federal dos Servidores do Estado, Serviço de Neurologia, Rio de Janeiro, RJ, Brazil.
› Author Affiliations
› Further Information
Also available at
   Permissions and Reprints

A 38-year-old woman presented to the emergency department with right hemiparesis. Brain computed tomography (CT) and magnetic resonance imaging (MRI) were recommended ([Figures 1] and [2]). Genetic study confirmed the presence of a point mutation m.3243 A>G of mtDNA, confirming the diagnosis of Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS).

Zoom Image
Figure 1 Brain computed tomography during hospital admission (A), 72 hours later (B), and fluid attenuated inversion recovery imaging (C) demonstrating bilateral lesions that do not respect arterial vascular territories. Diffusion-weighted imaging and apparent diffusion coefficient (D–E) demonstrating T2 shine through effect, representing vasogenic rather than cytotoxic edema.
Zoom Image
Figure 2 Magnetic resonance imaging spectroscopy demonstrates elevated lactate peak in cerebrospinal fluid.

MELAS is a rare mitochondrial disorder that can be manifested by stroke-like episodes, epilepsy, hyperlactatemia, myopathy, headaches, deafness, diabetes, and short stature[1]. Although not pathognomonic, the lactate peak observed in spectroscopy can be an indication for MELAS diagnosis, which is found to be correlated with the severity of clinical manifestations[2]. Genetic testing confirms the diagnosis[3].

Authors’ contributions:

DVN, LFRV: design or conceptualization of the study, analysis or interpretation of the data, and drafting or revising the manuscript for intellectual content.




Publication History

Received: 16 October 2021

Accepted: 28 November 2021

Article published online:
06 February 2023

© 2022. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

Thieme Revinter Publicações Ltda.
Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil