The word amyelencephalia is a medical term used to describe the congenital absence of both the brain and spinal cord. Its spelling is based on the Latin prefixes "a-" (meaning "without"), "myel-" (meaning "spinal cord"), "encephal-" (meaning "brain"), and the suffix "-ia" (meaning "condition of"). In IPA, it is pronounced as /ˌæmɪˌelɛnˈsɛfeɪliə/ (/ˌæmɪ/ – a-mi, /ˌelɛn/ – el-en, /ˈsɛfɛɪliə/ – sef-ey-li-uh). The rarity and complexity of this condition contribute to its difficult spelling.
Amyelencephalia is a rare medical condition characterized by the absence or severe underdevelopment of both the brain and spinal cord. The term is derived from Greek, where "a" means "lack of," "myelos" refers to "spinal cord," and "encephalos" relates to "brain."
Individuals with amyelencephalia typically present with profound neurological impairments. Due to the absence or severe malformation of the brain and spinal cord, these individuals often exhibit severe intellectual disability, lack of muscle coordination, and various developmental delays. Additionally, they may experience difficulties with basic bodily functions such as swallowing, breathing, and maintaining body temperature.
Diagnosis of amyelencephalia usually occurs during prenatal ultrasounds or shortly after birth when characteristic physical and neurological symptoms are observed. Unfortunately, treatment options for this condition are limited, and management typically focuses on providing supportive care to enhance the individual's quality of life.
Amyelencephalia is an extremely rare and severe form of neural tube defect, affecting only a small number of babies each year. The exact cause of this condition remains largely unknown, although genetic and environmental factors are believed to contribute. Genetic counseling can be beneficial for families who have a child diagnosed with amyelencephalia, as it can provide guidance regarding the chance of recurrence and available testing options for future pregnancies.
Absence of both brain and spinal cord.
A practical medical dictionary. By Stedman, Thomas Lathrop. Published 1920.
The word "amyelencephalia" is derived from Greek roots. It combines the Greek prefix "a-" meaning "without" or "lack of", with "myelos" meaning "marrow" or "spinal cord" and "enkephalos" meaning "brain". Therefore, "amyelencephalia" refers to a condition characterized by the absence or incomplete development of both the brain and spinal cord.