Galactosemia MRI: Difference between revisions
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* [[Cerebellar]] [[atrophy]] | * [[Cerebellar]] [[atrophy]] | ||
* Multiple small [[hyperintense]] lesions in the [[cerebral]] [[white matter]] on [[T2-weighted]] images | * Multiple small [[hyperintense]] lesions in the [[cerebral]] [[white matter]] on [[T2-weighted]] images | ||
* Reduced [[gray]] [[matter]] [[volume]]<ref name="pmid33199205">{{cite journal| author=Welsink-Karssies MM, Schrantee A, Caan MWA, Hollak CEM, Janssen MCH, Oussoren E | display-authors=etal| title=Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome. | journal=Mol Genet Metab | year= 2020 | volume= 131 | issue= 4 | pages= 370-379 | pmid=33199205 | doi=10.1016/j.ymgme.2020.11.001 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33199205 }} </ref> | |||
==References== | ==References== | ||
Revision as of 23:05, 5 July 2022
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Galactosemia Microchapters |
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Diagnosis |
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Case Studies |
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Galactosemia MRI On the Web |
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American Roentgen Ray Society Images of 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
|pmid=value (help).