The genetic background of LCC is also different from COXPD12; the former is caused by mutations in the SNORD118 gene (17p13.1; MIM 614561) rather than in EARS2. Even though the symptoms and imaging results (including CC atrophy) were typical of a patient with LCC, the fibroblasts of the examined child showed mitochondrial dysfunction due to a decreased EARS2 protein level. Here, EARS2 is linked to leukoencephalopathy with calcifications and cysts.