Reversal of Early Neurologic and Neuroradiologic Manifestations of X-Linked Adrenoleukodystrophy by Bone Marrow Transplantation

Abstract

X-LINKED adrenoleukodystrophy is an inherited peroxisomal disease caused by a defective gene located within the Xq28 region of the X chromosome. 1 Childhood adrenoleukodystrophy is characterized by multifocal demyelination of the central nervous system and adrenal insufficiency. 2 It is associated with an impairment of the degradation of saturated very-long-chain fatty acids. 3 4 5 These fatty acids accumulate in the cholesterol ester and ganglioside fractions of the patients' white matter and adrenal cortex, 2 as well as in plasma and red cells, 6 providing biochemical clues to the diagnosis of the disease. Adrenoleukodystrophy has a wide phenotypic variation, but most cases appear in childhood or adolescence . . .; X-linked adrenoleukodystrophy is an inherited disease caused by a defective gene located within the X chromosome. A case study of an eight-year-old boy in which bone marrow transplantation appeared to reverse the short-term evolution of the disease is presented.