An 8 1/2 month-old girl with seizures beginning at 5 days, hypsarrhythmia in the EEG, severe retardation, and a clinical diagnosis of infantile spasms was discovered to have biochemical and pathological features of adrenoleukodystrophy, as reported from the John F. Kennedy Institute, Johns Hopkins University, Baltimore, Maryland. Laboratory studies showed elevated plasma levels of very long chain fatty acids, and postmortem examination at 14 months revealed cerebral destructive lesions and adrenal cortex atrophy. Seizure frequency had diminished initially with prednisone 20mg/daily, but improvement was not maintained. The biochemical changes resembled the abnormalities observed in X-linked ALD and differed from those in the neonatal form. Comparison with other known peroxisomal disorders suggested a unique example of this category of disease. [1]
COMMENT. For an excellent review of the various entities now classified as generalized peroxisomal disorders, please refer to Naidu, Moser, [2] (reviewed in Ped Neur Briefs 1988;2:30). Immunopathological factors have been postulated in the pathogenesis of CNS lesions in X-linked adrenoleukodystrophy. Cyclophosphamide administered to 4 boys between 6 and 11 years of age with proven ALD failed to slow the rate of neurological progression. [3] Also, [4].