Galactosemia MRI
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]
Overview
MRI findings of galactosemic patients indicate abnormal myelination secondary to the inability to produce sufficient and/or normal galactocerebroside due to defective enzyme activity.
MRI Findings[1] for Galactosemia
- Mild cerebral atrophy
- Cerebellar atrophy
- Multiple small hyperintense lesions in the cerebral white matter on T2-weighted images
- Reduced gray matter volume[2]
References
- ↑ Nelson MD, Wolff JA, Cross CA, Donnell GN, Kaufman FR (1992). “Galactosemia: evaluation with MR imaging”. Radiology. 184 (1): 255–61. doi:10.1148/radiology.184.1.1319076. PMID 1319076.
- ↑ Welsink-Karssies MM, Schrantee A, Caan MWA, Hollak CEM, Janssen MCH, Oussoren E; et al. (2020). “Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome”. Mol Genet Metab. 131 (4): 370–379. doi:10.1016/j.ymgme.2020.11.001. PMID 33199205 Check
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