Chloride Voltage-Gated Channel 2 (CLCN2)-Related Leukoencephalopathy Exhibiting Reduced Choline Levels on Magnetic Resonance Spectroscopy.

Autor:	Ochiai K; Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Yachiyo, JPN., Ohashi T; Department of Neurology, Kamagaya General Hospital, Kamagaya, JPN., Mori H; Department of Radiology, Jichi Medical University, School of Medicine, Tochigi, JPN., Saitsu H; Department of Medical Science, Hamamatsu University School of Medicine, Hamamatsu, JPN., Takanashi JI; Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Yachiyo, JPN.
Jazyk:	angličtina
Zdroj:	Cureus [Cureus] 2024 Jun 05; Vol. 16 (6), pp. e61716. Date of Electronic Publication: 2024 Jun 05 (Print Publication: 2024).
DOI:	10.7759/cureus.61716
Abstrakt:	In this article, we report the third case of chloride voltage-gated channel 2 (CLCN2)-related leukoencephalopathy (CC2L) in Japan. The patient presented with headache, vertigo, and mild visual impairment. The CLCN2 variant of the patient, NM_004366.6:c.61dup, p.(Leu21Profs*27), was also found in two other Japanese patients as this variant is relatively common in the Japanese population. Magnetic resonance imaging (MRI) revealed T2 prolongation with reduced diffusion in the bilateral posterior limbs of the internal capsule, cerebral peduncles, and superior and middle cerebellar peduncles. Magnetic resonance spectroscopy (MRS) of normal-appearing white matter revealed decreased choline content. This represents the first evidence of decreased choline levels in CC2L, highlighting the superior sensitivity of MRS over MRI. Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Institutional Review Board Committees of Tokyo Women’s Medical University issued approval 356, 3535R. This study was approved by the Institutional Review Board Committees of Tokyo Women’s Medical University (approval number 356, 3535R) and Hamamatsu University School of Medicine (approval number 20-207). Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: This study was supported by the Japan Agency for Medical Research and Development Grant Number JP23ek0109637. Financial relationships: Jun-ichi Takanashi declare(s) a grant from Japan Agency for Medical Research and Development. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work. (Copyright © 2024, Ochiai et al.)
Databáze:	MEDLINE
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