PMC10246448_01
Conditioning regimen: fludarabine 30 mg/m2/day i.v. over 30 min (total 180 mg/m2). Busulfan 3,2/1,6 mg/kg body weight/d i.v. once daily over 3 h (total dose 8 mg/kg body weight) without busulfan kinetics/targeted AUC. Anti-thymocyte globulin (ATG, Grafalon  Neovii, Switzerland) 30 mg/kg bodyweight/day i.v. over 6-12 h. Methotrexate 15 mg/kg body weight i.v. bolus on day +1 and 10 mg/kg body weight on day +3 and +6.
fneur-14-1163107-g001.jpg
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fig1
Allo-HSCT was performed on his HLA-identical sibling after conditioning with busulfan 8 mg i.v./kg body weight and fludarabine 180 mg/m2 (Figure 1).
Neuropsychologic results of case 1.
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fig2
In neuropsychological tests performed 2.5 months before allo-HSCT, the patient showed below-average performance (T <= 40) in non-verbal learning and memory, working memory, and processing speed compared with age-, sex-, and education-based norm data and average reaction times in alertness tests [, Figure 2].
T2 SPACE dark fluid/FLAIR white matter integrity MR images, [18F] florbetaben myelin PET images, and overlaid PET/MR images of both adult-onset leukodystrophy with axonal spheroids and pigmented glia patients, together with (to illustrate respective imaging normality as a comparison) those of a healthy control subject. For the patients, baseline and follow-up images are shown. While in both patients with a favorable symptom outcome long-term after therapy, MRI showed progression of structural white matter integrity and subcortical atrophy, the Myelin PET images (white arrows) remained comparatively stable over time.
fneur-14-1163107-g003.jpg
PMC10246448_02_fneur-14-1163107-g003.jpg
fig3
However, white matter tracer binding deficits remained relatively stable over this longer follow-up period (Figure 3).
PMC10246448_02
Conditioning regimen: fludarabine 30 mg/m2/day i.v. over 30 min (total 180 mg/m2). Busulfan 3,2/1,6 mg/kg body weight/d i.v. once daily over 3 h (total dose 8 mg/kg body weight) without busulfan kinetics/targeted AUC. Anti-thymocyte globulin (ATG, Grafalon  Neovii, Switzerland) 30 mg/kg bodyweight/day i.v. over 6-12 h. Methotrexate 15 mg/kg body weight i.v. bolus on day +1 and 10 mg/kg body weight on day +3 and +6.
fneur-14-1163107-g001.jpg
PMC10246448_02_fneur-14-1163107-g001.jpg
fig1
Allo-HSCT was performed on his HLA-identical sibling after conditioning with busulfan 8 mg i.v./kg body weight and fludarabine 180 mg/m2 (Figure 1).
T2 SPACE dark fluid/FLAIR white matter integrity MR images, [18F] florbetaben myelin PET images, and overlaid PET/MR images of both adult-onset leukodystrophy with axonal spheroids and pigmented glia patients, together with (to illustrate respective imaging normality as a comparison) those of a healthy control subject. For the patients, baseline and follow-up images are shown. While in both patients with a favorable symptom outcome long-term after therapy, MRI showed progression of structural white matter integrity and subcortical atrophy, the Myelin PET images (white arrows) remained comparatively stable over time.
fneur-14-1163107-g003.jpg
PMC10246448_02_fneur-14-1163107-g003.jpg
fig3
However, white matter tracer binding deficits remained relatively stable over this longer follow-up period (Figure 3).