[Cerebral CT and MRI in mitchondrial disorders]

Area of Science:

• Neurology
• Radiology
• Genetics

Background:

• Mitochondrial disorders (MD) frequently impact the central nervous system (CNS), often correlating with imaging findings.
• CNS manifestations in MD require accurate diagnostic methods to differentiate from other neurological conditions.

Purpose of the Study:

• To highlight the role of Magnetic Resonance Imaging (MRI) in diagnosing CNS abnormalities in mitochondrial disorders (MD).
• To detail the structural and functional lesions detectable by MRI and proton spectroscopy in MD patients.

Main Methods:

• Utilizing MRI to identify structural CNS lesions, including strokelike lesions, atrophy, white/grey matter lesions, and iron deposition.
• Employing proton spectroscopy to detect functional abnormalities like increased lactate and choline levels.
• Considering CT for calcification and bleeding, and integrating clinical/family history for differential diagnosis.

Main Results:

• MRI effectively demonstrates diverse structural CNS lesions in MD, such as atrophy, white matter lesions, and increased iron deposition.
• Proton spectroscopy reveals functional changes like elevated lactate in white and grey matter.
• MRI can also document intracerebral vessel abnormalities, complementing CT findings for calcifications and bleeds.

Conclusions:

• MRI is the primary imaging modality for CNS abnormalities in MD, revealing both structural and functional changes.
• Integrating MRI, proton spectroscopy, CT, and clinical history is essential for accurate MD diagnosis and differentiation from conditions like MS.