Related Experiment Video
Updated: Mar 26, 2026
09:41
Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
Published on: July 19, 2019
12.2K
REVERSIBLE CLINICAL AND MAGNETIC RESONANCE IMAGING FINDINGS IN LATE-ONSET COBALAMIN C DEFECT
Genetic Counseling (Geneva, Switzerland)
|February 9, 2016
Summary
Late-onset Cobalamin C (Cbl C) disease can present with neuropsychiatric symptoms. Prompt treatment with hydroxycobalamin and other supplements can reverse clinical and MRI findings.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Cobalamin C (Cbl C) disease is a rare inherited metabolic disorder affecting intracellular cobalamin processing.
- It is characterized by two main clinical phenotypes based on age of onset.
Observation:
- An 8-year-old girl presented with late-onset Cbl C disease manifesting as neuropsychiatric symptoms.
- Genetic analysis identified a homozygous c.394C>T mutation in the MMACHC gene.
Findings:
- Brain MRI revealed white matter hyperintensities and cortical atrophy prior to treatment.
- Treatment with intramuscular hydroxycobalamin, oral folinic acid, and oral betaine led to clinical improvement.
- Post-treatment MRI demonstrated normalization of previously observed brain abnormalities.
Implications:
- This case highlights the potential reversibility of neurological damage in late-onset Cbl C disease.
- Early diagnosis and timely intervention are crucial for managing this metabolic disorder.
- The findings underscore the importance of specific treatments in ameliorating disease progression and improving patient outcomes.
Related Concept Videos
01:30Vitamins
2.9K
Vitamins, derived from the Latin word for life, are essential organic substances required in small quantities for optimal growth and overall well-being. Unlike other organic nutrients, vitamins don't act as sources of energy or building materials but rather facilitate these nutrients' utilization by the body. Vitamins are predominantly coenzymes, assisting enzymes in specific chemical actions, like the oxidation of glucose for energy involving B vitamins. Most vitamins are not produced...
2.9K
01:21Imaging Studies for Cardiovascular System IV: CMRI
515
Cardiovascular magnetic resonance imaging, or CMRI, is a non-invasive diagnostic test that employs a magnetic field and radiofrequency waves to create precise images of the heart and arteries. It provides comprehensive information about cardiac anatomy, function, perfusion, and tissue characterization without ionizing radiation.IndicationsCMRI diagnoses various heart conditions, including tissue damage from heart attacks, ischemic heart disease, myocarditis, aortic issues (tears, aneurysms,...
515
01:24Magnetic Resonance Imaging
10.3K
Magnetic resonance imaging (MRI) is a noninvasive medical imaging technique based on a phenomenon of nuclear physics discovered in the 1930s, in which matter exposed to magnetic fields and radio waves was found to emit radio signals. In 1970, a physician and researcher named Raymond Damadian noticed that malignant (cancerous) tissue gave off different signals than normal body tissue. He applied for a patent for the first MRI scanning device in clinical use by the early 1980s. The early MRI...
10.3K
01:23Mitral Stenosis II: Clinical features and Diagnostic Tests
405
Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
405