Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

[A case with MELAS associated with epilepsia partialis continua].

M Miyazaki1, T Saijo, K Mori

  • 1Department of Pediatrics, School of Medicine, University of Tokushima.

No to Hattatsu = Brain and Development
|January 1, 1991
PubMed
Summary

This study details a 14-year-old boy with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). Despite typical MELAS symptoms, key enzyme activities were normal, suggesting atypical disease mechanisms.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

In-process monitoring of a tissue-engineered oral mucosa fabricated on a micropatterned collagen scaffold: use of optical coherence tomography for quality control.

Heliyon·2022
Same author

Effects of lactic acid bacteria on low-density lipoprotein susceptibility to oxidation and aortic fatty lesion formation in hyperlipidemic hamsters.

Beneficial microbes·2014
Same author

Feeling the force: returning haptic signals influence effort inference during motor coordination.

Scientific reports·2013
Same author

Beneficial effect of oral administration of Lactobacillus casei strain Shirota on insulin resistance in diet-induced obesity mice.

Journal of applied microbiology·2011
Same author

Type II citrullinaemia (citrin deficiency) in a neonate with hypergalactosaemia detected by mass screening.

Journal of inherited metabolic disease·2002
Same author

Perceptual changes in illusory wrist flexion angles resulting from motor imagery of the same wrist movements.

Neuroscience·2002

Area of Science:

  • Neurology
  • Genetics
  • Mitochondrial Diseases

Background:

  • Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) is a maternally inherited disorder.
  • MELAS typically presents with stroke-like episodes, seizures, and mitochondrial myopathy.

Observation:

  • A 14-year-old boy experienced recurrent abdominal pain, vomiting, stroke-like episodes with hemiplegia, and epilepsia partialis continua.
  • Laboratory findings included elevated serum and CSF lactate and pyruvate levels.
  • Brain CT revealed low-density areas in bilateral temporal regions, and muscle biopsy showed ragged-red fibers.

Findings:

  • Despite classic MELAS clinical and pathological features, all tested enzyme activities (pyruvate dehydrogenase complex, pyruvate carboxylase, phosphoenol pyruvate carboxykinase, cytochrome c oxidase) and pyruvate decarboxylation rates in fibroblasts were normal.

Related Experiment Videos

  • This suggests a potential genetic mutation affecting mitochondrial function not detectable by standard enzyme assays.

    • Implications:

    • The findings challenge the typical understanding of MELAS pathophysiology, indicating that normal enzyme activity does not exclude the diagnosis.
    • Further genetic investigation is warranted to identify novel mutations responsible for this atypical MELAS presentation.
    • This case highlights the importance of considering MELAS in pediatric patients with recurrent neurological events and metabolic derangements, even with normal enzyme assays.