Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: A possible new peroxisomal disease entity

Sakkubai Naidu, G. Hoefler, Paul A Watkins, W. W. Chen, Ann B. Moser, S. Hoefler, N. E. Rance, J. M. Powers, M. Beard, W. R. Green, T. Hashimoto, H. W. Moser

Research output: Contribution to journalArticle

Abstract

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 apecimen were present in normal number and appeared enlarged. While the case resembles the recently reported entity of peroxisomal acylCoA 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.

Original languageEnglish (US)
Pages (from-to)1100-1107
Number of pages8
JournalNeurology
Volume38
Issue number7
StatePublished - 1988

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Peroxisomal Disorders
Adrenoleukodystrophy
Seizures
Phytanic Acid
Plasmalogens
Muscle Hypotonia
Peroxisomes
Liver
Adrenal Cortex
Bile Acids and Salts
Karyotype
Atrophy
Hepatocytes
Autopsy
Oxidoreductases
Fibrosis
Fatty Acids
Macrophages
Biopsy
Enzymes

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Neuroscience(all)

Cite this

Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy : A possible new peroxisomal disease entity. / Naidu, Sakkubai; Hoefler, G.; Watkins, Paul A; Chen, W. W.; Moser, Ann B.; Hoefler, S.; Rance, N. E.; Powers, J. M.; Beard, M.; Green, W. R.; Hashimoto, T.; Moser, H. W.

In: Neurology, Vol. 38, No. 7, 1988, p. 1100-1107.

Research output: Contribution to journalArticle

Naidu, S, Hoefler, G, Watkins, PA, Chen, WW, Moser, AB, Hoefler, S, Rance, NE, Powers, JM, Beard, M, Green, WR, Hashimoto, T & Moser, HW 1988, 'Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: A possible new peroxisomal disease entity', Neurology, vol. 38, no. 7, pp. 1100-1107.
Naidu, Sakkubai ; Hoefler, G. ; Watkins, Paul A ; Chen, W. W. ; Moser, Ann B. ; Hoefler, S. ; Rance, N. E. ; Powers, J. M. ; Beard, M. ; Green, W. R. ; Hashimoto, T. ; Moser, H. W. / Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy : A possible new peroxisomal disease entity. In: Neurology. 1988 ; Vol. 38, No. 7. pp. 1100-1107.
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AU - Watkins, Paul A

AU - Chen, W. W.

AU - Moser, Ann B.

AU - Hoefler, S.

AU - Rance, N. E.

AU - Powers, J. M.

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AU - Green, W. R.

AU - Hashimoto, T.

AU - Moser, H. W.

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AB - 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 apecimen were present in normal number and appeared enlarged. While the case resembles the recently reported entity of peroxisomal acylCoA 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.

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