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A pathological study of a peripheral nerve in a case of neonatal adrenoleukodystrophy

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Summary

The pathological findings for a sural nerve biopsy specimen in a case of neonatal adrenoleukodystrophy are described. The density and total number of myelinated fibers in the patient showed no significant changes compared with controls. On electric microscopy, however, thickness of the myelin was smaller in the patient than in controls. Some linear or trilamellar inclusion bodies were found in Schwann cells and fibroblasts, similar to those found in X-linked adrenoleukodystrophy. Büngner's bands were also seen on electron microscopy, and myelin ovoids and balls were seen in teased fibers. These results show that a sural nerve biopsy is useful for the diagnosis of neonatal adrenoleukodystrophy. We suspect that axonal or neuronal degeneration occurs with changes in myelin in neonatal adrenoleukodystrophy.

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References

  1. Aubourg P, Robain O, Rocchiccioli F, Dancea S, Scotto J (1985) The cerebro-hepato-renal (Zellweger) syndrome: lamellar lipid profiles in adrenocortical, hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasma. J Neurol Sci 69:9–25

    Google Scholar 

  2. Aubourg P, Scott J, Rocchiccioli F, Feldmann-Pautrat D, Robain O (1986) Neonatal adrenoleukodystrophy. J Neurol Neurosurg Psychiatry 49:77–86

    Google Scholar 

  3. Benke PJ, Reyes PF, Parker JC Jr (1981) New form of adrenoleukodystrophy. Hum Genet 58:204–208

    Google Scholar 

  4. Brun A, Gilboa M, Meeuwisse GW, Nordgren H (1978) The Zellweger syndrome: subcellular pathology, neuropathology, and the demonstration of pneumocystis carinii pneumonitis in two siblings. Eur J Pediatr 127:229–245

    Google Scholar 

  5. Haas JE, Johnson ES, Farrell DL (1982) Neonatal-onset adrenoleukodystrophy in a girl. Ann Neurol 12:449–457

    Google Scholar 

  6. Goldfisher S, Powers JM, Johnson AB, Axe S, Brown FR, Moser HW (1983) Striated adrenocortical cells in cerebrohepato-renal (Zellweger) syndrome. Virchows Arch [Pathol Anat] 401:355–361

    Google Scholar 

  7. Gordon N (1987) Peroxisomal disorders. Brain Dev 9:571–575

    Google Scholar 

  8. Jaffe R, Crumrine P, Hashida Y, Moser HW (1982) Neonatal adrenoleukodystrophy; clinical, pathological, and biochemical delineation of a syndrome affecting both males and females. Am J Pathol 108:100–111

    Google Scholar 

  9. Kelley RI, Datta NS, Dobyns WB, Hajra DA, Moser AB, Noetzel MJ, Zackai EH, Moser HW (1986) Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndrome. Am J Med Genet 23:869–901

    Google Scholar 

  10. Liu HM, Bangaru BS, Kidd J, Boggs J (1976) Neuropathological considerations in cerebro-hepato-renal syndrome (Zellweger's syndrome). Acta Neuropathol (Berl) 34:115–123

    Google Scholar 

  11. Manz HJ, Schuelein M, McCullough DC, Kishimoto Y, Eiben RM (1980) New phenotypic variant of adrenoleukodystrophy; pathologic, ultrastructural, and biochemical study in two brothers. J Neurol Sci 45: 245–260

    Google Scholar 

  12. Moser HW (1986) Peroxisomal disorders. J Pediatr 108: 89–91

    Google Scholar 

  13. Moser HW (1987) New approach in peroxisomal disorders. Dev Neurosci 9:1–18

    Google Scholar 

  14. Origuchi Y (1981) Quantitative histological study in the sural nerves of children. Brain Dev 3:395–402

    Google Scholar 

  15. Poulos A, Sharp P, Whiting M (1984) Infantile Refsam's disease (phytanic acid storage disease): a variant of Zellweger's syndrome? Clin Genet 26:579–586

    Google Scholar 

  16. Powers JM, Schaumburg HH (1974) Adrenoleukodystrophy (sex-linked Schilder's disease): a pathogenetic hypothesis based on ultrastructural lesions in adrenal cortex, peripheral nerve and testis. Am J Pathol 76:481–500

    Google Scholar 

  17. Powers JM, Schaumburg HH (1974) Adrenoleukodystrophy; similar ultrastructural changes in adrenal cortical and Schwann cells. Arch Neurol 30:406–408

    Google Scholar 

  18. Sander MZ, Cohen MS, Green WR, Zenaida C, De La Cruz MS, Brown III FR, Moser HW, Luckenbach MW (1983) Ocular histophatologic studies of neonatal and childhood adrenoleukodystrophy. Am J Ophthalmol 95:82–96

    Google Scholar 

  19. Schaumburg HH, Powers JM, Raine CS, Suzuki K, Richardson EP Jr (1975) Adrenoleukodystrophy; a clinical and pathological study of 17 cases. Arch Neurol 32:577–591

    Google Scholar 

  20. Schaumburg HH, Powers JM, Raine CS, Spencer P, Griffin JW, Prineas JW, Boehme DM (1977) Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. Neurology 27:1114–1119

    Google Scholar 

  21. Schröder JM, Bohl J, Brodda K (1978) Changes of the ratio between myelin thickness and axon diameter in the human developing sural nerve. Acta Neuropathol (Berl) 43:169–178

    Google Scholar 

  22. Schröder JM, Bohl J, von Bardeleben U (1988) Changes of the ratio between myelin thickness and axon diameter in human developing sural, femoral, ulnar, facial and trochlear nerves. Acta Neuropathol 76:471–483

    Google Scholar 

  23. Schutgens RBH, Heymans HSA, Wanders RJA, Bosch HVD, Tager JM (1986) Peroxysomal disorders: a newly recognised group of genetic diseases. Eur J Pediatr 144:430–440

    Google Scholar 

  24. Thomas PK (1984) Other inherited neuropathies. In: Dick PJ, Thomas PK, Lambert EH, Bunge RP (eds) Peripheral neuropathy. Saunders, Philadelphia, pp 1745–1772

    Google Scholar 

  25. Torvic A, Torp S, Kase BF, Ek J, Skjeldal O, Stokke O (1988) Infantile Refsum's disease: a generalized peroxisomal disorder; case report with postmortem examination. J Neurol Sci 85:39–53

    Google Scholar 

  26. Wolff J, Nyhan WL, Powell H, Takahashi D, Hutzler J, Hajra AK, Datta NS, Singh I, Moser HW (1986) Myopathy in an infant with a fatal peroxisomal disorder. Pediatr Neurol 2:141–146

    Google Scholar 

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Mito, T., Takada, K., Akaboshi, S. et al. A pathological study of a peripheral nerve in a case of neonatal adrenoleukodystrophy. Acta Neuropathol 77, 437–440 (1989). https://doi.org/10.1007/BF00687380

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  • DOI: https://doi.org/10.1007/BF00687380

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