ABSTRACT
Objective To report a case of Boonsta-Bosch-Schaff optic atrophy syndrome (BBSOAS) with infantile spasm, its clinical features as well as diagnosis and treatment process, and review the relevant literature. Methods Retrospectively analyze the clinical data of a case of BBSOAS with infant spasm patient in the First Medical Center of PLA General Hospital, retrieve the databanks of online human Mendelian genetic database (OMIM), PubMed, CNKI and Wanfang Medical Online, explore the clinical characteristic of BBSOAS with infant spasm patients, the relationship between the phenotype - genotype, and the therapeutic effect. Results The patient was a 9-month-old boy admitted to hospital due to "intermittent convulsions for 4 months". The growth and development of the child delayed, gaze following was poor; fundus examination showed pale optic disc (atrophy, small optic disc), spasm attack, and electroencephalogram indicated hypsarrhythmia. Genetic test found de novo missense mutation in NR2F1 gene c.383G>A (p.YS128tyr), so diagnosed as BBSOAS and Infantile spasms. The spasticity was not controlled and hypsarrhythmia was still existed in electroencephalogram after adrerrmrticotropic hormone (ACTH) and a variety of antiepileptic drugs were administered. Fever occurred 2 weeks after out of hospital oral perampanel, spasms was completely controlled after the febrile retrograde. A total of 9 English references were obtained by searching multiple databases and manual screening, and a total of 46 cases of BBSOAS were found, among which 9 cases were complicated with infantile spasms. All the amino acid changes caused by NR2F1 gene mutation were located in DNA-binding domain, and optic nerve atrophy or/and hypoplasia were observed. Conclusions The new missense mutation of NR2F1 gene c.383G>A that caused BBSOAS and infantile spasm is no literature report before. In case of optic atrophy or hypoplasia associated with spasm in infants and young children, the doctor should consider the possibility of BBSOAS, and do the genetic examination if necessary. Perampanel may be a potential drug for spasm control in such children.