Objective: To explore and report the clinical characteristics

gene mutation

diagnosis and treatment methods of a case of Legius syndrome complicated with epilepsy. Methods: Clinical data of a child with Legius syndrome complicated with epilepsy were collected and analyzed

and literature review on Legius syndrome was conducted. Results: The proband

a female child

first presented at the age of 6 years with afebrile seizures characterized by generalized tonic-clonic episodes and vomiting before and after the seizures. Multiple café-au-lait macules of varying sizes

larger than 6 macules with a maximum diameter of 3 centimeters

were observed on the neck

anterior chest

buttocks and lower limbs. The electroencephalogram showed focal or multifocal spike and wave discharges

as well as generalized slow wave activity in various regions. Genetic testing revealed a heterozygous mutation c. 7G>T (p. Glu3Ter) in SPRED1 gene

which was not found in the parents

indicating a de novo mutation. Conclusion: Genetic testing plays a significant role in the early diagnosis

genetic counseling and prognosis assessment of Legius syndrome

and the development of follow-up treatment regimen.