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

Louis Cousyn 1 Bruno Law-Ye 2 Nadya Pyatigorskaya 2 Rabab Debs 1 Roseline Froissart 3, 4 Monique Piraud 3 Antonio Federico 5 Simona Salvatore 5 Alfonso Cerase 6 Maria Macário 7 João Durães 7 Seung Kim 8 Hiroshi Adachi 9 Bertrand Audoin 10, 11, 12 Xavier Ayrignac 13 Yuwei Da 14 Robert Henderson 15 Roberta La Piana 16 Cornelia Laule 17, 17, 18, 17 Kiyotaka Nakamagoe 19 Raili Raininko 20 Ludger Schols 21, 22 Sandra Sirrs 17 Fausto Viader 23, 24 Karol Jastrzębski 25 Delphine Leclercq 2 Yann Nadjar 1 
Abstract : 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 patients with confirmed Krabbe disease with first clinical manifestations beyond 10 years of age. Data were obtained from our reference center for lysosomal diseases (n = 6) and from contacted authors of published articles describing patients with adult-onset Krabbe disease (n = 15). T2-weighted fluid-attenuated inversion recovery images of each patient were analyzed and scored using a radiologic 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 precentral 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%), postcentral 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 radiologic features to guide the diagnosis.
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Submitted on : Monday, January 24, 2022 - 11:18:34 AM
Last modification on : Saturday, September 24, 2022 - 2:54:05 PM




Louis Cousyn, Bruno Law-Ye, Nadya Pyatigorskaya, Rabab Debs, Roseline Froissart, et al.. Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease. Neurology, 2019, 93 (7), pp.e647-e652. ⟨10.1212/WNL.0000000000007943⟩. ⟨hal-03540772⟩



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