Abstract
Leukodystrophies are genetic disorders of the myelin that affect 1 in 7000 live births, 50% of which remain undiagnosed after standard clinical testing. Hypomyelination with brainstem and spinal cord abnormalities and leg spasticity (HBSL) closely mimics another leukodystrophy, leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). HBSL also has shared features on MRI with acquired neuroinflammatory diseases and in certain cases is steroid responsive. Careful clinical phenotyping, MRI pattern recognition, and clinical testing are critical in differentiating these disorders to achieve a diagnosis.
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Ulrick, N., Vanderver, A. (2017). Hypomyelination with Brainstem and Spinal Cord Abnormalities and Leg Spasticity (HBSL). In: Waubant, E., Lotze, T. (eds) Pediatric Demyelinating Diseases of the Central Nervous System and Their Mimics. Springer, Cham. https://doi.org/10.1007/978-3-319-61407-6_36
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DOI: https://doi.org/10.1007/978-3-319-61407-6_36
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