AI Article Synopsis
- The article discusses a third case of chloride voltage-gated channel 2 (CLCN2)-related leukoencephalopathy (CC2L) identified in Japan, where the patient experienced symptoms like headache, vertigo, and mild visual impairment.
- The specific genetic variant in the patient, NM_004366.6:c.61dup, p.(Leu21Profs*27), was found to be relatively common among Japanese patients, as it has also appeared in two other cases.
- MRI indicated changes in brain structure, while magnetic resonance spectroscopy (MRS) provided new insights by revealing decreased choline levels in the white matter, underscoring MRS's greater sensitivity compared to MRI.
Article Abstract
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 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11225226 | PMC |
| http://dx.doi.org/10.7759/cureus.61716 | DOI Listing |
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