Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease
Neurology® Aug 19, 2019
Cousyn L, Law-Ye B, Pyatigorskaya N, et al. – Researchers conducted a systematic analysis and scoring of brain MRI white matter hyperintensities (WMH) in patients with adult-onset Krabbe disease. From patients with confirmed Krabbe disease with first clinical manifestations beyond 10 years of age, basic clinical data and the first available brain MRI were retrospectively gathered. Data were acquired from the reference center for lysosomal diseases (n = 6) and from contacted authors of published articles describing adult-onset Krabbe disease patients (n = 15). Using a radiologic score of WMH in a single center, T2-weighted fluid-attenuated inversion recovery images of each patient were analyzed and scored. They found that corticospinal tract has always been impacted by WMH (100% of patients), though with some differences along the tract—the precentral gyrus, corona radiata, and posterior internal capsule were highly abnormal, whereas the mesencephalon, pons, and medulla oblongata were less affected. In addition, WMH were often present in the posterior lateral periventricular white matter, optic radiations, postcentral gyrus, medial lemniscus, and corpus callosum, especially in the isthmus, whereas the genu was always normal. The authors specified the main WMH locations that were observed in the earliest stages of the disease and were also present in patients with atypical MRI pattern, emphasizing the importance of radiologic characteristics to guide the diagnosis.
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