Table 3

Brain MRI findings

IDPhenotypeBrain imaging anomaly
Cerebral cortexSupratentorial white matterBasal gangliaThalamusCerebellumMidbrainPonsMedulla
PutamenCaudate nucleusGlobus pallidusGrey matterWhite matterVermisPedunclesDentate nucleus
1PS+KSSAT2↑
4PS+KSSAA, T2↑T2↑T2↑AT2↑AT2↑T2↑T2↑
10PS+KSST2↑T2↑T2↑
13PS+KSST2↑
14PS+KSST1↓, T2↑
15PS+KSST2↑T2↑T2↑T2↑
20KSST2↑
21KSST1↑T1↑T1↑T1↑
25KSST2↑T2↑T2↑
28KSST2↑T2↑
36KSSA, T2↑A, T2↑AT2↑T2↑T2↑T2↑
41KSSAAA
43KSST2↑
44KSST2↑T2↑T2↑T2↑
48KSSAAA
54KSST1↓, T2↑
58PEOT1↓, T2↑T1↓, T2↑T1↓, T2↑
  • No abnormalities were seen in the nucleus subthalamicus or corpus callosum. Magnetic resonance spectroscopy was performed two times; patient 20 had elevated lactate in the putamen and periventricular white matter and decreased n-acetylaspartic acid in the putamen, and patient 21 had normal findings.

  • ↑, hyperintensity; ↓, hypointensity; A, atrophy; ID, identification; KSS, Kearns-Sayre syndrome; PEO, progressive external ophthalmoplegia; PS, Pearson syndrome; T1, T1 signal; T2, T2 signal.