Figure 1.

Brain MRI and MRS Spectroscopy

(A) Brain MRIs of individuals with LIPT1 and LIPT2 mutations. As in LIPT1-deficient individual (LIPT1-P, top), brain MRI revealed supra-tentorial cortical atrophy, ventricular dilatation in P1 with LIPT2 deficiency (LIPT2-P1, middle), cortical anomalies with cystic white matter anomalies at age 4 weeks, and major cortical and subcortical atrophy with ventricular dilatation and formation of major cysts at age 4 months in P3 with LIPT2 deficiency (LIPT2-P3, bottom).

(B) MRS spectroscopy in P1 with LIPT2 deficiency. MRS spectroscopy with long TE showed a peak of lactate (1.3 ppm).