Osteopetrosis with early onset neurodegeneration andiron accumulation in certain brain regions has been describedin one patient, which is a very unusual finding.Full-exome sequencing revealed the presence of a novelc.783+5G>T mutation in the OSTM1 gene, causing exon 4skipping, and a frameshift variant c.446dup in the homozygousstate in the MANEAL gene. The gene discussed is OSTM1; the disease is osteopetrosis.