Leukodystrophy in children. Globoid cell leukodystrophy. Clinical case

Abstract

 Annotation: Pediatric globoid cell leukodystrophy (GLD, or Crabbe's disease) is a rare hereditary degenerative disease of the central and peripheral nervous systems. It is characterized by the presence of globoid cells (multinucleated cells), the destruction of the protective myelin coating of the nerve and the destruction of brain cells. Globoid cell leukodystrophy is one of a group of genetic diseases called leukodystrophy. These disorders disrupt the growth or development of the myelin sheath and cause severe degeneration of mental and motor skills. Myelin, which gives its color to the "white matter" of the brain, is a complex substance consisting of a number of different glucoproteins and glucolipids, the most important of which is galactocerebroside. Each of the leukodystrophy affects one of these substances. Globoid cell leukodystrophy is caused by a deficiency of galactocerebroside-β-galactosidase (GALC), an important enzyme for myelin metabolism. The disease most often affects infants, with onset before the age of 6 months, but can occur in adolescence or adulthood. Symptoms include irritability, unexplained fever, limb stiffness (hypertension), seizures, difficulty feeding, vomiting, and slowing of mental and motor development. Other symptoms include muscle weakness, spasticity, deafness, and blindness.