Situs Inversus Totalis and Severe Early-Onset Developmental Epileptic Encephalopathy in a Child With a Homozygous CFAP52 Mutation: A Case Report.

We report a 2-year-old boy with a homozygous CFAP52 mutation presenting with situs inversus totalis, severe epileptic developmental encephalopathy, and global developmental delay, expanding the phenotypic spectrum of CFAP52-related ciliopathies. Clinical findings included multifocal epileptiform discharges, thin corpus callosum, and a small subdural hematoma. Trio whole-exome sequencing also revealed a homozygous NCAPG2 variant of uncertain significance, however, its clinical significance remains unproven and no causal relationship can be established. This case highlights the diagnostic value of comprehensive genomic testing in complex neuro-visceral disorders and underscores the importance of cautious interpretation of co-inherited variants in atypical ciliopathy presentations. The report follows CARE guidelines.