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

Author:

Cousyn Louis,Law-Ye BrunoORCID,Pyatigorskaya NadyaORCID,Debs Rabab,Froissart Roseline,Piraud MoniqueORCID,Federico Antonio,Salvatore Simona,Cerase Alfonso,Macário Maria C.ORCID,Durães JoãoORCID,Kim Seung H.,Adachi Hiroshi,Audoin Bertrand,Ayrignac Xavier,Da Yuwei,Henderson Robert,La Piana Roberta,Laule Cornelia,Nakamagoe KiyotakaORCID,Raininko Raili,Schols Ludger,Sirrs Sandra M.,Viader Fausto,Jastrzębski KarolORCID,Leclercq DelphineORCID,Nadjar Yann

Abstract

ObjectiveTo perform a systematic analysis and scoring of brain MRI white matter hyperintensities (WMH) in adult-onset Krabbe disease.MethodsWe 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.ResultsThe 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).ConclusionsWe 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.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

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1. Adult-onset Krabbe disease manifesting as Charcot- Marie-Tooth disease;Neurology Asia;2024-03

2. Beyond MS;Clinical Aspects of Multiple Sclerosis Essentials and Current Updates;2024

3. Pediatric leukodystrophies;Advances in Magnetic Resonance Technology and Applications;2023

4. Leucoencefalopatie ereditarie e leucodistrofie dell’adulto;EMC - Neurologia;2022-12

5. Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report;Frontiers in Neurology;2022-10-21

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