Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769

Fig. 1.

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Fig. 1.

Brain magnetic resonance (MR) axial T2-weighted images (A–E) of Patients 1 to 5 show high signal intensity lesions involving: (A) both the caudate nucleus and basal ganglia at 42 months of age in Patient 1, (B) periaqueductal area and midline of the midbrain at 15 months of age in Patient 2, (C, D) basal ganglia at 37 months in Patient 3 and at 22 months of age in Patient 4, (E) both caudate nucleus and basal ganglia at 47 months of age in Patient 5, together with diffuse cerebral atrophy and white matter volume loss. (F) Brain MR spectroscopy of Patient 3 shows the lactate peak in the putamen.

Journal of Genetic Medicine 2019;16:55-61 https://doi.org/10.5734/JGM.2019.16.2.55
© 2019 Korean Society of Medical Genetics and Genomics