The patient from family 1 showed leukodystrophy with clinical signs of acute psychomotor regression, the outcome was respiratory failure, swallowing disturbances and epileptic seizures, The patient carried biallelic compound heterozygous variants in the IBA57 gene (NM_001010867.3); c.87ins_GCCCAAGGTGC; p.R30Afs*46 and c.313 C > T; p.R105W,both located in exon 1 and inherited from heterozygous parents. The gene discussed is IBA57; the disease is leukodystrophy.