关键词: Ayme-Gripp综合征； MAF基因； 癫痫； 临床特点； 诊疗措施

Abstract: Objective To summarize the clinical characteristics and genetic change in Ayme-Gripp syndrome (AYGRPS). Methods The clinical data of a child with AYGRPS were retrospectively analyzed and related literatures were reviewed. Results A 3 years and 3 months old female patient presented recurrent seizure since five months old. Her head circumference was 45.5 cm ( C (p.E 156 D) heterozygous missense mutation in MAF gene. Combined with the phenotype and variation, this child was diagnosed as AYGPRS caused by MAF gene mutation. A total of 21 cases of AYGRPS were reviewed in the literature, and all the 21 patients carried missense mutations in MAF gene. The AYGRPS is a congenital disease with multiple system involvement, characterized by congenital cataracts, sensorineural hearing loss, special facial features, skeletal abnormalities and neurodevelopmental abnormalities. More than half patients may have epilepsy. Conclusion Epilepsy is one of the common clinical features of AYGRPS, and a novel mutation in MAF was discovered.

Key words: Ayme-Gripp syndrome; MAF gene; epilepsy; clinical mainfeature; diagnosis and treatment