[P3-148] Cardiofaciocutaneous syndrome: case report and literature review
Introduction We reported one case with cardiofaciocutaneous syndrome (CFC) who was diagnosed by BRAF gene analysis. CFC is a rare autosomal dominant disease. Methods we collected the following information about one case with microcephaly and cerebellar hypoplasia: course of disease, EEG results, imaging results and genome analysis of the family. And we finally made a definite diagnosis by finding mutations in BRAF. Results this is a preterm girl born at 35 weeks and she is now 10 months old. Anoxia asphyxia happened at birth because of hydramnios. When she was 7 months old, convulsions occurred and she was diagnosed as epilepsy based on the following examination results: abnormal signal in bilateral temporal lobes, cerebellum, endocyst and callosum in MRI; bilateral low-high amplitude sharp slow wave complex and high amplitude slow wave. Her psychomotor development started to retrogress since convulsions. Exon sequencing identifies a mutation in exon11 of BRAF (chr7:140481417c.1391G>T). None of her parents has this mutation indicating that this mutation is de novo. After medication, physical therapy and supportive treatment, no obvious improvement was seen and her psychomotor development still lagged behind. Conclusion Genetic analysis for BRAF gene could be helpful for CFC diagnosis.