BACKGROUND: Heterozygous mutations in the PACS1 gene have been shown to cause Schuurs-Hoeijmakers syndrome, a rare condition characterized by intellectual disability and peculiar facial dysmorphisms. To date, 52 cases have been reported (49 postnatally and 3 prenatally diagnosed).
CASE REPORT: We describe a child carrying the recurrent PACS1 c.607C>A variant; besides the typical neurodevelopmental and physical features of the condition, he also showed previously unreported cerebellar and ocular findings.
CONCLUSIONS: Our findings expand the clinical and neuroimaging presentation of Schuurs-Hoeijmakers syndrome and confirm the power of "genotype first" approach in patients with syndromic phenotypes. We also suggest a role for PACS1 in influencing cerebellar and ocular development.