Related Experiment Video

Updated: Jun 20, 2026

SECONDs Administration Guidelines: A Fast Tool to Assess Consciousness in Brain-injured Patients
11:05

SECONDs Administration Guidelines: A Fast Tool to Assess Consciousness in Brain-injured Patients

Published on: February 6, 2021

[Arreflexic coma and MELAS syndrome]

N Muñoz-Guillén1, R León-López, M J Ferrer-Higueras

  • 1Servicio de Medicina Intensiva, Hospital Universitario Reina Sofía, Córdoba, España. webnoelia9@mixmail.com

Revista Clinica Espanola
|August 28, 2009
PubMed

Insights

Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) is a fatal neurodegenerative disease caused by mitochondrial DNA mutations. Early diagnosis and understanding its clinical features are crucial for managing this rare condition.

Area of Science:

  • Neurology
  • Genetics
  • Mitochondrial Diseases

Background:

  • Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) is a progressive, fatal neurodegenerative disorder.
  • It stems from mutations in mitochondrial DNA, affecting approximately 1 in 5,000 individuals worldwide.
  • Key features include stroke-like episodes, lactic acidosis, and myopathy.

Observation:

  • This article details a clinical case of a 31-year-old woman diagnosed with MELAS syndrome.
  • The patient presented to the Intensive Care Unit with arreflexic coma.
  • Cardinal symptoms like severe headache, seizures, and early-onset symptoms (before age 40) are common in MELAS.

Findings:

  • Diagnosis of MELAS is confirmed via genetic testing or muscle biopsy showing ragged-red fibers.
  • The disease is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
  • Prognosis for MELAS patients is generally poor, often leading to early mortality.

Implications:

  • This case highlights the severe presentation and progression of MELAS syndrome.
  • Understanding the genetic basis and clinical manifestations is vital for early intervention.
  • Further research into MELAS treatment strategies is warranted to improve patient outcomes.

Related Concept Videos

REM Sleep Behavior Disorder01:15

REM Sleep Behavior Disorder

REM Sleep Behavior Disorder (RBD) is a sleep disorder characterized by the absence of muscle paralysis that normally occurs during the REM phase of sleep. This absence allows individuals to physically act out their dreams, which are often vivid and disturbing. Common behaviors exhibited during episodes include kicking, punching, and yelling. These actions can be dangerous, potentially leading to injuries for the person with RBD or their bed partner.
RBD is significantly associated with...
Reflex Activity01:08

Reflex Activity

A reflex activity is an automatic, involuntary response to specific stimuli. It is a part of our survival mechanism, designed to protect us from potential harm. For example, when a bright light suddenly shines into our eyes, we instinctively close them or look away. This is a simple reflex activity orchestrated by the nervous system without conscious thought or effort.
A reflex exam is a diagnostic procedure performed by a healthcare professional to evaluate the functionality of a patient's...
Acute Respiratory Failure-III01:30

Acute Respiratory Failure-III

Hypercapnic respiratory failure, also known as Type 2 or ventilatory respiratory failure, is a severe condition characterized by the body's inability to effectively remove carbon dioxide (CO2) from the bloodstream. It leads to an arterial CO2 pressure (PaCO2) exceeding 45 mmHg and a blood pH above 7.35. This situation indicates that the body's ventilatory demand, or the ventilation needed to maintain normal PaCO2 levels, surpasses its supply or the maximum gas flow achievable without causing...
Hepatic Encephalopathy01:29

Hepatic Encephalopathy

DefinitionHepatic encephalopathy is a reversible neurologic syndrome that results from advanced liver dysfunction or portosystemic shunting. It leads to disturbances in cognition, behavior, and motor function due to the brain’s exposure to gut-derived toxins that the liver fails to detoxify.EtiologyThis condition develops either in the setting of acute fulminant hepatitis or progressively during chronic liver disease, such as cirrhosis and portal hypertension. Portosystemic shunting—including...
Multiple Sclerosis l: Introduction01:19

Multiple Sclerosis l: Introduction

Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
Amnesia01:13

Amnesia

Amnesia is a condition marked by long-term memory loss, which impairs the ability to recall past events or create new memories.
The severity and duration of memory loss vary depending on the type and underlying cause. Amnesia is classified into two main types: retrograde and anterograde.
Retrograde amnesia is marked by the loss of memories formed before the onset of the condition. Patients may recall distant past events but often forget those occurring shortly before the incident.
Anterograde...