Rehabilitation of a 17-Year-Old Patient with X-Linked Adrenoleukodystrophy

Abstract

X-linked adrenoleukodystrophy is an X-linked recessive disease affecting the white matter of the central nervous system along with occasional involvement of the adrenal gland due to mutation of the ABCD1 gene, which leads to accumulation of very-long-chain fatty acid (VLCFA) in the white matter of the brain and adrenal cortex. Diminished vision, speech disturbance, motor weakness, bladder–bowel involvement and adrenal insufficiency can be seen in affected individuals according to phenotype and involved area. In this case, the patient was a 17-year-old male with progressive weakness of all limbs along with the difficulty of speech and vision. Magnetic resonance imaging showed T2 hyperintensity in white matters of temporo-parieto-occipital region, splenium and body of corpus callosum, peritrigonal area, posterior limb of internal capsule and corticospinal tract location of pons and midbrain. His plasma VLCFA was elevated. Along with medical treatment, our rehabilitation team comprising a physiatrist and other supporting members provided rehabilitation management. Although different methods such as dietary modification, bone marrow transplantation and gene therapy have been tried for these types of cases globally, rehabilitation remains the backbone of the management protocol for advanced cases.

Keywords

• adrenoleukodystrophy
• comprehensive rehabilitation
• magnetic resonance imaging
• white matter disease
• x-linked disease