Focal cerebellar infarction as an initial sign of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

Ara Ko; Sang-Jun Lee; Young-Mock Lee

doi:10.1002/jimd.12020

Focal cerebellar infarction as an initial sign of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

J Inherit Metab Dis. 2019 May;42(3):575-576. doi: 10.1002/jimd.12020. Epub 2019 Jan 28.

Authors

Ara Ko^{1

2}, Sang-Jun Lee³, Young-Mock Lee³

Affiliations

¹ Department of Pediatrics, Pusan National University Children's Hospital, Pusan National University School of Medicine, Yangsan, Republic of Korea.
² Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Republic of Korea.
³ Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.

PMID: 30693531
DOI: 10.1002/jimd.12020

Abstract

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a type of mitochondrial disorder and stroke-like lesions are observed prominently in the brain magnetic resonance imaging. Those stroke-like lesions of MELAS patients are usually located in the posterior quadrants and do not correspond to typical vascular territories. This case illustrates that focal cerebellar infarction can be the sole initial sign of MELAS.

Keywords: MELAS; ataxia; cerebellum; dysarthria; mitochondria.

Publication types

Case Reports

MeSH terms

Acidosis, Lactic / etiology*
Brain / pathology*
Cerebral Infarction / diagnostic imaging
Cerebral Infarction / etiology*
Child, Preschool
Humans
MELAS Syndrome / diagnosis*
MELAS Syndrome / pathology
Magnetic Resonance Imaging
Male