Type 1 early infantile epileptic encephalopathy: A case report and literature review

Background Variants in the Aristaless‐related homeobox (ARX) gene lead to a variety of phenotypes, with intellectual disability being a steady feature. Other features can include severe epilepsy, spasticity, movement disorders, hydranencephaly, and ambiguous genitalia in males. X‐linked Ohtahara syndrome or Type 1 early infantile epileptic encephalopathy (EIEE1) is a severe early‐onset epileptic encephalopathy with arrested psychomotor development caused by hemizygous mutations in the ARX gene, which encodes a transcription factor in fundamental brain developmental processes. Methods We presented a case report of a 2‐year‐old boy who exhibited symptoms such as microcephaly, seizures, and severe multifocal epileptic abnormalities, and genetic techniques such as autozygosity mapping, Sanger sequencing, and whole‐exome sequencing. Results We confirmed that the patient had the NM_139058.3:c.84C>A; p.(Cys28Ter) mutation in the ARX gene. Conclusion The patient with EIEE1 had physical symptoms and hypsarrhythmia on electroencephalogram. Genetic testing identified a causative mutation in the ARX gene, emphasizing the role of genetic testing in EIEE diagnosis. Variants in Aristaless‐related homeobox (ARX) gene lead to a variety of phenotypes with intellectual disability being a steady feature. Other features can include severe epilepsy, spasticity, movement disorders, hydranencephaly, and ambiguous genitalia in males. Ohtahara syndrome or Type 1 early infantile epileptic encephalopathy is a severe early‐onset epileptic encephalopathy with arrest of psychomotor development caused by hemizygous mutations in the ARX gene, which encodes a transcription factor in fundamental brain developmental processes. We presented a case report of 2‐year‐old boy, which indicates symptoms of Ohtahara syndrome.