MRI findings in neuronal ceroid lipofuscinosis.
| Title: | MRI findings in neuronal ceroid lipofuscinosis. |
|---|---|
| Authors: | Crain AM; University of Texas at Dallas, 800 W Campbell Rd, Richardson, TX 75080.; Kitchen DL; Department of Radiology, University of Texas Southwestern Medical Center,5323 Harry Hines Blvd, Dallas, TX 75390.; Godiyal N; University of Texas at Dallas, 800 W Campbell Rd, Richardson, TX 75080.; Pfeifer CM; Department of Radiology, University of Texas Southwestern Medical Center,5323 Harry Hines Blvd, Dallas, TX 75390. |
| Source: | Radiology case reports [Radiol Case Rep] 2020 Sep 22; Vol. 15 (11), pp. 2375-2377. Date of Electronic Publication: 2020 Sep 22 (Print Publication: 2020). |
| Publication Type: | Case Reports; Journal Article |
| Language: | English |
| Journal Info: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101467888 Publication Model: eCollection Cited Medium: Print ISSN: 1930-0433 (Print) Linking ISSN: 19300433 NLM ISO Abbreviation: Radiol Case Rep Subsets: PubMed not MEDLINE |
| Imprint Name(s): | Publication: 2015-: Amsterdam : Elsevier; Original Publication: Seattle, WA : University of Washington, 2006- |
| Abstract: | Neuronal ceroid lipofuscinosis is a rare cause for developmental delay and seizures that results in neurodegeneration. Presented here is a case of a 5-year-old male who presented for MRI following a delay in achieving developmental milestones and epilepsy. MRI was performed demonstrating a thinned corpus callosum and generalized low parenchymal volume with periventricular gliosis. Magnetic resonance spectroscopy showed glutamate/glutamine accumulation and diminished N-acetylaspartate. The diagnosis of neuronal ceroid lipofusciosis was revealed following genetic testing. This case is useful in showing findings of this rare disorder.; (© 2020 The Authors. Published by Elsevier Inc. on behalf of University of Washington.) |
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| Contributed Indexing: | Keywords: MRI; Neuronal ceroid lipofuscinosis |
| Entry Date(s): | Date Created: 20200930 Latest Revision: 20201002 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC7515973 |
| DOI: | 10.1016/j.radcr.2020.09.014 |
| PMID: | 32994845 |
| Database: | MEDLINE |
Case Reports; Journal Article