Data from: Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease

Objective: To perform a systematic analysis and scoring of brain MRI White
Matter Hyperintensities (WMH) in adult-onset Krabbe disease. Methods: We
retrospectively collected basic clinical data and the first available
brain MRI from confirmed Krabbe patients with first clinical
manifestations beyond 10 years old. Data were obtained from our reference
center for lysosomal diseases (n=6) and from contacted authors of
published articles describing adult-onset Krabbe patients (n=15).
T2-weighted fluid-attenuated inversion recovery (FLAIR) images of each
patient were analysed and scored using a radiological score of WMH in a
single center. Results: The corticospinal tract was always affected by WMH
(100% of patients), however with some distinctions along the tract: the
pre-central gyrus (100%), corona radiata (95%) and posterior internal
capsule (81%) were highly abnormal whereas the mesencephalon (57%), pons
(52%) and medulla oblongata (5%) were less affected. WMH were also
frequently present in the posterior lateral periventricular white matter
(95%), optic radiations (86%), post central gyrus (71%), medial lemniscus
(62%) and corpus callosum, especially in the isthmus (71%), whereas the
genu was always normal. A few patients did not have the classical MRI
pattern but extensive hyperintensities (n=3), or patchy distribution of
hyperintensities mimicking an acquired etiology (n=2), or very subtle
hyperintensities of the corticospinal tract (n=1). Conclusions: We
specified the main locations of WMH, which were observed in the earliest
stages of the disease and were also present in patients with atypical MRI
pattern, highlighting the importance of radiological features to guide the
diagnosis.