PTEN and gastrointestinal polyp: This report presents a rare case of CS in a Bahraini child who presented with macrocephaly and had numerous intestinal polyposis. Genetic testing using whole exome sequencing confirmed the diagnosis, identifying a pathogenic de novo phosphatase and tensin homolog gene (PTEN) variant (Chr10 NM_000314.8: c.17_18del p.(Lys6Argfs*4)) in a heterozygous state.