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

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...

Full description

Saved in:
Bibliographic Details
Published inCurēus (Palo Alto, CA) Vol. 16; no. 6; p. e61716
Main Authors Ochiai, Kenta, Ohashi, Takashi, Mori, Harushi, Saitsu, Hirotomo, Takanashi, Jun-Ichi
Format Journal Article
LanguageEnglish
Published Palo Alto Cureus Inc 05.06.2024
Cureus
Subjects
Asymptomatic
Brain
Chloride
Edema
Genetics
Genomes
Headaches
Kinases
Magnetic resonance imaging
Mutation
Neurology
Pediatrics
Radiology
Spectrum analysis
Visual impairment
United States > US
Japan
Online AccessGet full text

Cover

More Information
Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.61716