Early diagnosis improving the outcome of an infant with epileptic encephalopathy with cytoplasmic FMRP interacting protein 2 mutation: Case report and literature review.

ABSTRACT:

Rationale

Early infantile epileptic encephalopathy (EIEE) 65 was recently shown to be caused by the cytoplasmic FMRP interacting protein 2 (CYFIP2) mutation. To date, only 5 cases have been reported in two articles, and all the outcomes in all cases were poor.

Patient concerns

In this study, we reported an 8-month-old girl with a 1 month-long history of seizures and developmental delay. Over 1 month later, she developed epileptic spasms in clusters with hypsarrhythmia on electroencephalography.

Diagnosis

The patient was diagnosed with EIEE 65 and trio-based whole-exome sequencing revealed a causative de novo CYFIP2 mutation c.260G >T (p.Arg87Leu).

Interventions

The proband was successively treated with multiple antiepileptic drugs, including levetiracetam, phen

SUBMITTER: Zhong M 

PROVIDER: S-EPMC7017979 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature