Genetic diagnostics revealed a homozygous mutation in the EXOSC5 gene (c.230_232del and p.Glu77del), which explained most, if not all, of the above-mentioned clinical features (within the spectrum of cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC) syndrome). This evidence concerns the gene EXOSC5 and aceruloplasminemia.