February 27, 2014
A 10-year-old boy with acute onset of altered mental status, seizure, upper extremity hemiparesis, and generalized non-throbbing headache, plus a five-month history of apathy toward school and sports
X-Linked Adrenoleukodystrophy (ALD)
- ALD is a peroxisomal disorder with an X-linked pattern of inheritance. It results from a deficiency of acyl Co-A synthetase.
- Clinical manifestations start between 6 and 9 yrs of age, with behavioral, auditory, visual, and gait abnormalities.
- Key Diagnostic Features: Demyelination classically involves occipital lobes and splenium of corpus callosum in bilaterally symmetrical pattern. Three zones are delineated on MRI (as explained in the figure caption).
- Rx: Bone marrow transplantation (in the early stages); restriction of very long-chain fatty acids (VLCFA)
