Epileptic Encephalopathy, Early Infantile, 2 is a severe neurological disorder characterized by infantile-onset seizures, global developmental delay, psychomotor regression, microcephaly, mental retardation, motor dyspraxia, hypotonia and myoclonus. Most patients are wheelchair bound and skeletal anomalies include scoliosis, small feet, and small hands with tapering fingers. Patients exhibit subtle facial dysmorphia such as a broad, prominent forehead, deep-set, large-appearing eyes with well-defined eyebrows, anteverted nares, and full lips. Affected individuals may also exhibit behavioral patterns such as hand wringing, washing, breath-holding, and autistic tendencies. Other symptoms include hyperventilation, constipation, gastroesophageal reflux, sleep difficulties, and autonomic disturbances. Due to phenotypic overlap, the disorder was earlier speculated to be a subset of Rett syndrome, but is now considered a distinct entity. It has been found to occur in women more often than men, with a ratio of 5:1.
Diagnosis of EIEE2 can be done by electroencephalogram studies to identify atypical hypsarrhythmia patterns. While there is no cure for the disorder, treatment is focused on improving symptoms and providing a better quality of life. Patients may require anticonvulsants to control seizures along with steroid treatment and a ketogenic diet. Vagal nerve stimulation may also be beneficial. Affected individuals also require physical therapy, occupational therapy, and speech and augmentative communication therapy.