We report imaging findings during, between, and after 2 stroke-like episodes in a 45-year-old woman with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome with an A32243G mitochondrial mutation 6 years before. In November 2010, for a first episode, she showed mixed aphasia with logorrhea, disinhibition, agitation, euphoria, and a large left temporoparietal lesion. Symptomatology progressively regressed under L-arginine treatment. She was readmitted in June 2011 for a second episode with great anxiety, disorientation, impaired face recognition, worsening mixed aphasia, and a new right temporal lesion. After additional L-carnitine treatment, she remained without relapse for 14 months.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/RLU.0b013e318286bd6f | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Lateralised periodic discharges and photic sensitivity in adult onset MELAS syndrome in twin sisters.
Clin Neurol Neurosurg
January 2025
Department of Neurology, University of Health Sciences, Sancaktepe Şehit Prof. Dr. İlhan Varank Training and Research Hospital, Istanbul, Turkey. Electronic address:
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most common mitochondrial disorders, typically presenting with symptoms before the age of 40. Epileptic seizures are a common manifestation, with both focal and generalized seizures being observed. EEG findings can be variable, with the most common patterns being slow background activity followed by epileptiform discharges.
View Article and Find Full Text PDFUnraveling the genetic spectrum of inherited deaf-blindness in Portugal.
Orphanet J Rare Dis
January 2025
Ophthalmology Department, Centro Hospitalar e Universitário de Coimbra (CHUC), Hospitais da Universidade de Coimbra (HUC), ULS Coimbra, Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal.
Background: Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. However, many other conditions can present dual sensory impairment. Accurate diagnosis is essential for providing patients with genetic counseling, prognostic information, and appropriate resources.
View Article and Find Full Text PDFIncidental finding of MELAS in a young woman with decompensated heart failure and end stage kidney disease: a case report.
Eur Heart J Case Rep
January 2025
Department of Cardiology, National University Heart Center Singapore, 5 Lower Kent Ridge Rd, Singapore, Singapore 119074.
Background: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare and progressive mitochondrial disorder characterized by multi-systemic involvement. This disease manifests in various clinical manifestations, with heart and kidney disorders being among the most common. Accurate diagnosis of MELAS often necessitates a range of complex investigations.
View Article and Find Full Text PDFReversible Perfusion Changes during Acute Attacks in Glucose Transporter Type 1 Deficiency Syndrome: A Pediatric Case Series.
AJNR Am J Neuroradiol
January 2025
Department of Pediatric Radiology and Neuroradiology (C.D., F.A., C.P., A.R.), Children's Hospital V. Buzzi, Milan, Italy.
Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is an uncommon condition represented by an infantile-onset disorder, frequently arising from heterozygous mutations in the gene. Individuals with GLUT1-DS may present with early-onset seizures (typically manifesting before 4 years of age), developmental delay, and complex movement disorders. In fewer cases, stroke-like events or hemiplegic migraine-like symptoms are also reported, defined by unilateral paresis affecting 1 side of the body and/or one-half of the face, occasionally accompanied by speech impairment.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!