Abstract:
:Purpose To determine whether altered sodium (Na(+)) and chloride (Cl(-)) homeostasis can be visualized in periodic paralyses by using 7-T sodium 23 ((23)Na) and chlorine 35 ((35)Cl) magnetic resonance (MR) imaging. Materials and Methods Institutional review board approval and informed consent of all participants were obtained. (23)Na (repetition time msec/echo time msec, 160/0.35) and (35)Cl (40/0.6) MR imaging of both lower legs was performed with a 7-T whole-body system in patients with genetically confirmed hypokalemic periodic paralysis (Cav1.1-R1239H mutation, n = 5; Cav1.1-R528H mutation, n = 8) and Andersen-Tawil syndrome (n = 3) and in 16 healthy volunteers. Additionally, each participant underwent 3-T proton MR imaging on the same day by using T1-weighted, short-tau inversion-recovery, and Dixon-type sequences. Muscle edema was assessed on short-tau inversion-recovery images, fatty degeneration was assessed on T1-weighted images, and muscular fat fraction was quantified with Dixon-type imaging. Na(+) and Cl(-) were quantified in the soleus muscle by using three phantoms that contained 10-, 20-, and 30-mmol/L NaCl solution and 5% agarose gel as a reference. Parametric data for all subpopulations were tested by using one-way analysis of variance with the Dunnett test, and correlations were assessed with the Spearman rank correlation coefficient. Results Median muscular (23)Na concentration was higher in patients with Cav1.1-R1239H (34.7 mmol/L, P < .001), Cav1.1-R528H (32.0 mmol/L, P < .001), and Kir2.1 (24.3 mmol/L, P = .035) mutations than in healthy volunteers (19.9 mmol/L). Median muscular normalized (35)Cl signal intensity was higher in patients with Cav1.1-R1239H (27.6, P < .001) and Cav1.1-R528H (23.6, P < .001) than in healthy volunteers (12.6), but not in patients with the Kir2.1 mutation (14.3, P = .517). When compared with volunteers, patients with Cav1.1-R1239H and Cav1.1-R528H showed increased muscular edema (P < .001 and P = .003, respectively) and muscle fat fraction (P < .001 and P = .017, respectively). Conclusion With 7-T MR imaging, changes of Na(+) and Cl(-) homeostasis can be visualized in periodic paralyses and are most pronounced in the severe phenotype Cav1.1-R1239H, with up to daily paralytic episodes. (©) RSNA, 2016 An earlier incorrect version of this article appeared online. This article was corrected on April 18, 2016.
journal_name
Radiologyjournal_title
Radiologyauthors
Weber MA,Nagel AM,Marschar AM,Glemser P,Jurkat-Rott K,Wolf MB,Ladd ME,Schlemmer HP,Kauczor HU,Lehmann-Horn Fdoi
10.1148/radiol.2016151617subject
Has Abstractpub_date
2016-09-01 00:00:00pages
848-59issue
3eissn
0033-8419issn
1527-1315journal_volume
280pub_type
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