Brain Injury Terms and Definitions

Canavan disease
Canavan disease is an inherited disorder of the central nervous system in which affected individuals cannot break down a compound called N-acetyl-L-aspartic acid (NAA). Canavan disease is one of a group of genetic disorders called the eukodystrophies.

cerebellum
The portion of the brain mainly responsible for balance and coordination.

Central nervous system Birth Defect
Neural tube defects, hydrocephaly, holoprosencephaly, Dandy-Walker malformation

Genitourinary Birth Defect
Renal agenesis (bilateral), hypospadias (2nd or 3rd degree)

Spina bifida
Is a condition that often has disabling consequences. With severe spina bifida, a person’s legs and feet are paralyzed, and there are problems with bowel and bladder control. Learning disabilities are common, and mental retardation sometimes occurs

neural tube defect
A structure in early fetal life that develops into the brain, spinal cord, spinal nerves and spine.

stroke
A condition produced by a blood clot that lodges in an artery and blocks the flow of blood to a portion of the brain, producing symptoms ranging from paralysis of limbs and loss of speech to unconsciousness and death. Less commonly, a stroke may be the result of bleeding into the substance of the brain.

Alexander disease
Alexander disease is considered one of the leukodystrophies, a group of disorders where the primary abnormality is the inability to maintain the fatty covering (myelin) that insulates nerve fibers in the brain. Alexander disease is a rare disorder of the nervous system that usually begins during infancy or early childhood.

Pantothenate kinase-associated neurodegeneration
Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. The condition is characterized by progressive difficulty with movement and speech

Pfeiffer syndrome
Many of the characteristic facial features of Pfeiffer syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to bulging and wide-set eyes, an underdeveloped upper jaw, and a beaked nose.