Purpose: Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a rare autosomal dominant genetic disorder involving multiple organ systems and primarily characterized by structural brain abnormalities and a distinctive facial appearance.
Methods: To study the clinical characteristics, gene types and seizures of BWCFF. The natural history, clinical data and peripheral blood sample were collected in the child and his patients. To screen the β-actin gene (ACTB) of a newly diagnosed child, hoping to find the gene mutation.
Results: The child had left ptosis, ocular hypertelorism, arched eyebrows, only 30% of the left ear hearing, a slight hypotonia, normal muscle strength, walking instability. The seizures were difficult to control with antiepileptic drugs and presented some degree of psychomotor development delay. Genetic screening showed De Novo in ACTB gene (c.484A> G, p.Thr162Ala). Parents did not detect related gene mutations.
Conclusions: Patients with typical facial features and cerebral cortical malformations associated with refractory epilepsy should be highly suspected BWCFF. Patients are advised to carry out genetic screening to confirm the diagnosis.
Keywords: ACTB mutation; Baraitser-Winter cerebrofrontofacial syndrome; cerebral malformations; epilepsy.