Metachromatic leukodystrophy (MLD): management
Evidence-based neurology checklist on metachromatic leukodystrophy (mld): management: Magnetic resonance imaging (MRI): features White matter lesions Tigroid pattern Tumefactive lesions Thickening of the optic nerve Enhancement of the cranial nerves and cauda equina Other investigations Treatment
Magnetic resonance imaging (MRI): features
- White matter lesions
- Tigroid pattern
- Tumefactive lesions
- Thickening of the optic nerve
- Enhancement of the cranial nerves and cauda equina
Other investigations
Treatment
References
- Meier K, Gärtner J, Huppke P. Tumefactive inflammatory lesions in juvenile metachromatic leukodystrophy. Neurol Neuroimmunol Neuroinflamm 2020; 8:e922.
- Roi D, Mankad K, Kaliakatsos M, Cleary M, Manzur A, D'Arco F. Thickening of the optic nerves in metachromatic leucodystrophy: a new MRI finding. Neuroradiol J 2016; 29:134-136.
- Morana G, Biancheri R, Dirocco M, et al. Enhancing cranial nerves and cauda equina: an emerging magnetic resonance imaging pattern in metachromatic leukodystrophy and krabbe disease. Neuropediatrics 2009; 40:291-294.
- Beerepoot S, Nierkens S, Boelens JJ, Lindemans C, Bugiani M, Wolf NI. Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective. Orphanet J Rare Dis 2019; 14:240.
- Cabanillas Stanchi KM, Böhringer J, et al. Hematopoietic stem cell transplantation with mesenchymal stromal cells in children with metachromatic leukodystrophy. Stem Cells Dev 2022; 31:163-175.
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