Purpose or Case Report: (1) To review basic pathophysiology of the Mitochondria and Energy Production.
(2) To review Genetic and Inheritance patterns of Primary Mitochondrial Disorders, primarily affecting Central
Nervous System (CNS).
(3) To discuss the role of MR imaging in the evaluation of Pediatric Neuromitochondrial Disorders.
(4) To review imaging patterns of the Pediatric Neuromitochondrial Disorders with several illustrative examples.
Methods & Materials: A retrospective review of imaging database of pediatric patients who were clinically diagnosed with Neuromitochondrial disorders from 2010-2024 was performed.

Representative cases were identified and included in this exhibit with detailed discussion of clinical, laboratory and MRI imaging features of Pediatric Neuromitochondrial Disorders.
Results: MR Imaging Patterns for Pediatric Neuromitochondrial Disorders were classified and discussed in 3 categories with representative examples as follows:
(1) Primary Grey Matter Involvement
A. Stroke Like Cortical Involvement with Restricted Diffusion
e.g. MELAS, POLG-RD (Alpers), SDH, KSS, Complex 1 mt-DNA, CoQ10 Deficiency
B. Leigh like Syndrome with symmetrical deep grey matter involvement
e.g. Leigh syndrome, SURF1 Mutation, KSS, mt-ND1-6
(2) Primary White Matter Involvement
A. Cavitating Leukodystrophy
e.g. Complex 1 Deficiency (NDUFS1, NDUFS2), Complex 2 Deficiency (SDH, MFU1, BOLA3), Complex 3 Deficiency (LYRM7), Complex 4 Deficiency
B. Non-cavitating Leukodystrophy
e.g. KSS, MNGIE (Mitochondrial neurogastrointestinal encephalomyopathy)
(3) Miscellaneous:
a. Cerebellar Involvement: NUBPL, CoQ10 Deficiency
b. Spinal Cord Involvement: LBSL, MTFMT Deficiency
c. Optic Nerve Atrophy: LHON
d. Brain Development Defect/Malformations: Pyruvate Dehydrogenase Complex (PDHc) Deficiency
Conclusions: Neuroimaging is an important tool in evaluation of PMDs, either as a primary tool for diagnosis or as an adjunct to clinical, laboratory and genetic evaluations.

Pattern based algorithms based on imaging is often useful to make specific diagnosis or narrow the DDx.

Attention to additional imaging clues including MRS for lactate peak elevation is very useful.

Multidisciplinary approach and input from clinical/radiology colleagues is very important.