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Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy

A possible new peroxisomal disease entity

From the John F. Kennedy Institute and Departments of Neurology (Drs. Naidu, G. Hoefler, Watkins, and Chen, A3. Moser, and Drs. S. Hoefler and H.W. Moser), Pathology (Dr. Rance), and Ophthalmology (Dr. Green), Johns Hopkins University, Baltimore; Department of Pathology (Dr. Powers), Medical University of South Carolina, Charleston, SC; the Department of Biological Sciences (Dr. Beard), Columbia University, New York; and the Department of Biochemistry (Dr. Hashimoto), Shinshu University School of Medicine, Asahi, Japan.

Neonatal hypotonia, seizures beginning at 5 days, and severe retardation were noted in a girl with normal karyotype and biochemical evidence of impaired adrenal function. Postmortem examination at 14 months revealed malformative and destructive lesions of central gray and white matter, atrophy of adrenal cortex with striated adrenocortical cells, hepatic fibrosis, and PAS-positive macrophages in several organs. Pathologically and clinically, this patient most closely approximated neonatal adrenoleukodystrophy (ALD) and differed strikingly from X-linked childhood ALD. In contrast, biochemical changes resembled the abnormalities observed in X-linked ALD and differed from those in the neonatal form. The very-long-chain fatty acid accumulation characteristic of both disorders was demonstrated, but unlike neonatal ALD, the levels or metabolism of plasmalogens, pipecolic acid, phytanic acid, and bile acid intermediates were normal, and peroxisomes in a liver biopsy specimen were present in normal number and appeared enlarged. While the case resembles the recently reported entity of peroxisomal acyl-CoA oxidase deficiency, assignment to this category was excluded by immunoblot studies on postmortem liver, which revealed normal amounts of this enzyme. Correlation of clinical, morphologic, and biochemical data suggests that this case is an example of a so-far undescribed entity, and reinforces the concept that the phenotypic spectrum of peroxisomal disorders is wider than realized.

Address correspondence and reprint requests to Dr. Naidu, John F. Kennedy Institute, 707 N. Broadway, Baltimore, MD 21205.

Received September 4, 1987. Accepted for publication in final form November 27, 1987.

Supported in part by grants HD 10981 to H.W. Moser and EY 03168 to Dr. Eric Hottzman, Columbia University, from the US Public Health Service. Dr. Gerald Hoefler is supported by the Fonds zur Foerderung der Wissentschaflichen Fonchung, project number J0145M and Dr. Sigrid Hoefler by a Fulbright Scholarship.

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