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 as devastating degenerative disorders leading to major neurologic deterioration and death within a few years.²