Figure 1 Pedigrees of studied kindred and axial FLAIR brain MRI
images of patient 1.. A, Kindred of patient 1 (patient VII-7). A known
family history of MNGIE (patients VII-1, VII-2) led to early diagnosis
of patient 1 at eight years of age. The mother (individual VI-4) was a
fully matched HLA (10/10) donor for her daughter; B, Kindred of three
siblings: patient 2 (patient V-2), patients 3 (patient V-1) and patient
4 (patient V-6). All donors were fully HLA-matched related donors:
individual V-7 for patient 2, individual IV-6 for patient 3 and
individual V-17 for patient 4; C, Axial FLAIR brain MRI of patient 1
showing pre-HSCT abnormal high signal intensity of the deep and
periventricular white matter, as well as foci of high intensity in both
frontal lobes with sparing of the subcortical U-fibers. Brainstem, shown
here at the level of middle cerebral peduncles, is unaffected; D, Six
years post HSCT. Minimal progression visualized in the deep and
periventricular white matter. New foci of high signal intensity were
recognized in the brainstem; E, Thirteen years post HSCT. Progression of
the abnormal signal intensity in the white matter of both hemispheres.
Minimal progression in brainstem structures. Of note, it is possible
that part of the progression of MRI changes may be related to
improvement in image quality over the years.