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NEUROLOGY 1987;37:1012
© 1987 American Academy of Neurology

Electronmicroscopic study on biopsied rectal mucosa in adrenoleukodystrophy

K. Tanaka, MD, T. Yamano, MD, M. Shimada, MD, M. Ohno, MD, A. Onaga, MD, Y. Saeki, PhD, S. Kodama, MD and H. Nishio, MD

Department of Pediatrics (Drs. Tanaka, Yamano, Shimada, Ohno, and Onaga) and Central Research Laboratory (Dr. Saeki), Shiga University of Medical Science, Otsu, Japan; and the Department of Pediatrics (Drs. Kodama and Nishio), Kobe University School of Medicine, Kobe, Japan.

Rectal mucosal biopsies were performed for seven members of five families with adrenoleukodystrophy (ALD). Many histiocytes contained characteristic cytoplasmic lamellar inclusions that were identical to those seen in adrenocortical cells, brain macrophages, and Schwann cells of affected patients. The ultrastructural features were seen in all patients and also in two asymptomatic younger brothers who had presymptomatic ALD according to assay of very-long-chain fatty acids.

Address correspondence and reprint requests to Dr. Tanaka, Department of Pediatrics, Shiga University of Medical Science, Tsukinowa-cho, Seta, Otsushi, Shiga-ken, Japan 520-21.

Received June 10, 1986. Accepted for publication in final form September 5, 1986.






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