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Krabbé Disease is named for the Danish neurologist who first described it in 1916. The disorder is characterized by the presence of globoid cells (cells that have more than one nucleus), the breakdown of the nerve’s protective myelin coating, and destruction of brain cells. Krabbé disease is one of a group of genetic disorders called the leukodystrophies. These disorders impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers, and cause severe degeneration of mental and motor skills. Krabbé disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism. The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood. Symptoms include irritability, unexplained fever, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development. Other symptoms include muscle weakness, spasticity, deafness, and blindness. There are four forms of Krabbé Disease; Infantile, Late Infantile, Juvenile and Adult-Onset. The infantile forms of Krabbé disease are generally fatal in the first few years of life. Prognosis may be significantly better for children who receive umbilical cord blood stem cells prior to disease onset or early bone marrow transplantation. Persons with juvenile- or adult-onset cases of Krabbé disease generally have a milder course of the disease and live significantly longer. |