FOXG1 gene related epileptic diskinetic encephalopathy

Objectives FOXG1-related disease was defined as the congenital Rett syndrome variant when it was first defined, but it was called FOXG1-related syndrome as the characteristics of the identified cases were understood. Methods We present a six-year-old girl with FOXG1 mutation who was preliminary diagnosed as Rett syndrome. Results A 5-year-old girl presented with growth retardation, small head circumference, seizure and stereotyped hand movements. Her medical history was remarkable with mental motor retardation and epilepsy. Neurological examination revealed microcephaly, psychomotor delay, uncoordinated head movements and stereotyped hand movements. Laboratory investigations including metabolic screening tests and brain magnetic resonance imaging were normal, whereas the Denver Development Screening Test was severely retarded at all areas.Her electroencephalography revealed epileptic encephalopathy. Molecular genetic analysis for MECP2 AND CDKL15 were normal. She was analysed for the possible underlying diagnosis of atypic Rett syndrome and a FOXG1 mutation was detected by studying the TruSight inherited disease panel (Illumina) containing 555 genes. Conclusions This case is presented to draw attention to FOXG1-related epileptic-dyskinetic encephalopathy in the differential diagnosis of children with rett like phenotype.
Keywords: FOXG1, diskinetic,encephalopathy, epileptic, gene