Sebastian syndrome as a cause of thrombocytopenia

Sebastian syndrome is a rare disease related to mutations of the MYH9 gene, with an autosomal dominant pattern. This gene can cause different phenotypes in individuals with the same mutation and even within the same family. Its importance lies in the possibility of developing kidney failure, hearing loss and cataracts in youth or adulthood.

We describe the case of a 9-year-old Caucasian girl with an initial study of thrombocytopenia and a family history of Sebastian Syndrome with a positive genetic study for the mutation in the MYH9 gene.

We highlight the importance of early diagnosis of hereditary thrombocytopenias, as well as the usefulness of genetic study for these very rare diseases.