Case of child cerebral form of X-linked adrenoleukodystrophy
X-linked adrenoleukodystrophy (XALD) refers to a group lipidosis characterized by progressive demyelination of the central nervous system and spinal cord, also peripheral adrenal insufficiency. Affects only boys. Early symptoms - experience learning and behavioral problems that usually begin between the ages of 4 and 10. In 80 % of patients the initial demyelinating lesion is localized in the splenium of the corpus callosum and progresses to involve the adjacent parieto-occipital white matter. As the disease progresses, more overt neurologic deficits become apparent, which include withdrawn or hyperactive behavior, apraxia, astereognosia, auditory impairment, decreased visual acuity, hemiparesis or spastic tetraparesis, cerebellar ataxia and seizures. At this stage progression is extremely rapid to death. Thus, there are behavioral and cognitive disorders in preschool boys and young school-age, epilepsy, specific changes on MRI of the brain, it is necessary to exclude X-linked adrenoleukodystrophy.