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September 1975

Adrenoleukodystrophy: A Clinical and Pathological Study of 17 Cases

Author Affiliations

From the Saul R. Korey Department of Neurology (Dr. Schaumburg), the Department of Pathology (Neuropathology) (Drs. Schaumburg, Raine, and Suzuki), Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY; the Department of Pathology, Medical University of South Carolina, Charleston (Dr. Powers); and the C. S. Kubik Laboratory of Neuropathology, Massachusetts General Hospital, Boston (Dr. Richardson).

Arch Neurol. 1975;32(9):577-591. doi:10.1001/archneur.1975.00490510033001

• Adrenoleukodystrophy was diagnosed pathologically in 17 male patients. The diagnosis was suggested by clinical and laboratory signs of primary adrenal failure and by neurological signs referable to the degeneration of white matter. Neurological findings usually predominated over clinical stigmata of adrenal failure. Adrenal biopsy has proved to be the most reliable diagnostic test, while brain biopsy has often been misleading. The histological picture of the brain lesion differs substantially from that of the adrenal, but the presence of similar ultrastructural cytoplasmic inclusions suggests a common metabolic disorder. Morphological analysis of the cerebral lesion indicates that the destruction may spread in a caudal-rostral direction. The intense inflammatory cell response occurs within the demyelinated areas, behind the area of active myelin breakdown, and appears to be a secondary feature of white matter degeneration.

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