Abstract
Context:Krabbe disease shows considerable heterogeneity in clinical features and disease progression. Imaging phenotypes are equally heterogeneous but show distinct age-based patterns. It is important for radiologists to be familiar with the imaging spectrum to substantially contribute toward early diagnosis, prognostication, and therapeutic decisions.Aims:The study aims to describe different magnetic resonance imaging (MRI) patterns observed in a cohort of children with Krabbe disease and to assess correlation with age-based clinical phenotypes.Materials and Methods:This is a retrospective descriptive study done at the Departments of Radiodiagnosis and Neurological Sciences of our institution, a tertiary care hospital in Southern India. Imaging features of children diagnosed with Krabbe disease over a 10-year period (2009–2018) were collected and analyzed.Results:A total of 38 MRI brain studies from 27 patients were analyzed. Four distinct MRI patterns were recognizable among the different clinical subtypes. All patients from the early and late infantile group showed deep cerebral and cerebellar white matter and dentate hilum involvement. Optic nerve thickening was, however, more common in the former group. Adult-onset subtype showed isolated involvement of corticospinal tract, posterior periventricular white matter, and callosal splenium with the absence of other supra- and infra-tentorial findings. Juvenile subgroup showed heterogeneous mixed pattern with 78% showing adult subtype pattern and 22% showing patchy involvement of deep cerebral white matter with dentate hilum signal changes.Conclusion:Krabbe disease shows distinct imaging features which correspond to different clinical age-based subtypes. This article reemphasizes these distinct imaging phenotypes, highlights a novel imaging appearance in juvenile Krabbe, and also alludes to the rare variant of saposin deficiency. Awareness of these patterns is essential in suggesting the appropriate diagnosis and guiding conclusive diagnostic workup. Large multicenter longitudinal studies are needed to further define the role of imaging in predicting the clinical course and thus to guide therapeutic options.
Highlights
Krabbe disease is a rare autosomal recessive lysosomal storage disorder caused by a deficiency of galactocerebrosidase enzyme or its activator protein saposin
This retrospective study was approved by the Institutional Review Board, after which a comprehensive list of patients diagnosed with Krabbe disease was obtained from retrospective chart review and radiology information system
Considering the fact that some cases had imaging done outside the institution and on different scanners within the institution, only those with optimal magnetic resonance imaging (MRI) brain imaging with T2, T2 fluid-attenuated inversion recovery (FLAIR), and T1 sequences of diagnostic quality were included
Summary
Krabbe disease (globoid cell leukodystrophy) is a rare autosomal recessive lysosomal storage disorder caused by a deficiency of galactocerebrosidase (galactosylceramidase) enzyme or its activator protein saposin. Almost 100 years after its initial description, diagnosis and management often remain a challenge Factors such as inherent heterogeneity in clinical and imaging phenotypes, rarity of the disease, and reduced awareness contribute to underrecognition and misdiagnosis on initial imaging studies. Et al.: Magnetic resonance imaging pattern of Krabbe disease heterogeneous.[1] This affects the management decisions of children found positive on newborn screening. These are confounding factors in deciding who should undergo bone marrow transplant given the considerable associated morbidity. This article aims to revisit the distinct imaging patterns of Krabbe disease and attempts to correlate with age of onset-based clinical subtypes
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