Cerebral imaging in paediatric mitochondrial disorders

Area of Science:

• Neurology
• Radiology
• Genetics

Background:

• The central nervous system (CNS) is frequently affected in mitochondrial disorders (MIDs).
• Paediatric MIDs are increasingly recognized, necessitating a focus on CNS manifestations in children.
• Understanding morphological CNS abnormalities on imaging is vital for managing these patients.

Purpose of the Study:

• To review and summarize current knowledge on CNS imaging abnormalities in paediatric mitochondrial disorders.
• To discuss recent advances in the field of CNS imaging for paediatric MIDs.
• To emphasize the importance of CNS imaging in the diagnosis and monitoring of MIDs in children.

Main Methods:

• A systematic literature review was conducted.
• Analysis of imaging findings in paediatric patients with MIDs.
• Compilation of data on various imaging techniques used.

Main Results:

• Common CNS abnormalities include white/grey matter lesions, stroke-like lesions, cerebral atrophy, calcifications, and optic atrophy.
• Lesions can be dynamic (progressive or regressive) or static.
• Relevant imaging techniques include CT, MRI, MR spectroscopy, SPECT, PET, and angiography.

Conclusions:

• CNS imaging is essential for diagnosing and monitoring CNS involvement in paediatric MIDs.
• Imaging findings aid in understanding the pathomechanisms of CNS involvement in MIDs.
• Screening all MID patients for cerebral involvement is recommended due to potential asymptomatic presentation.