Understanding Encephalomere: Causes, Symptoms, and Treatment Options

Encephalomere is a rare congenital brain malformation that is characterized by the incomplete development of the cerebral hemispheres. It is caused by a failure of the neural tube to properly close during fetal development, resulting in a range of cognitive and behavioral abnormalities.

The term "encephalomere" comes from the Greek words "en" meaning "within," "cephalos" meaning "head," and "meros" meaning "part." Together, the term refers to the fact that the cerebral hemispheres are not fully formed or developed within the brain.

Encephalomere can be caused by a variety of genetic mutations or environmental factors during fetal development. It is often associated with other congenital anomalies, such as hydrocephalus (fluid accumulation in the brain) and agenesis of the corpus callosum (absence of the connecting tissue between the two cerebral hemispheres).

The symptoms of encephalomere can vary widely depending on the severity of the malformation and the location and extent of the affected areas. Some common features include intellectual disability, seizures, difficulty with coordination and balance, and abnormalities in speech and language development. Treatment options are limited and may include medication to control seizures and other symptoms, as well as physical and occupational therapy to help improve cognitive and motor function.