EBF3-associated hypotonia, ataxia and delayed development syndrome – the mask cerebral palsy (case report)

Pathogenetic nucleotide variants at many genetic loci can cause conditions like cerebral palsy. Establishing the etiologic diagnosis is clinically important for optimal disease management and treatment.

The presented family case demonstrates a clinical polymorphism associated with variants in the EBF3 gene that impaired transcription regulation. The described variant c.703C>T (p.His235Tyr) in the EBF3 leads to severe motor and intellectual disability mimicking cerebral palsy.

Timely detection of monogenic diseases hiding under the mask of cerebral palsy will help to establish a timely diagnosis and conduct medical and genetic counseling to prevent recurrent cases in the family.