Advertisement

Histopathological Findings in Adrenoleukodystrophy Autopsy Report of a Boy Aged 11 Years and 11 Months

  • R. Schnabel
  • C. Gerhard
Part of the Acta Neuropathologica Supplementum book series (NEUROPATHOLOGIC, volume 7)

Summary

Clinical and pathohistological findings of a boy who died of adrenoleukodystrophy at the age of 11 years and 11 months are reported. Special features are the advanced diffuse demyelination of cerebral and cerebellar white matter as well as the “burnt-out” stage of myelin breakdown with fibrous gliosis. The leukodystrophic process is accompanied by secondary loss of axons with marked atrophy of grey matter in the whole of the brain stem, dentates and cerebellar cortex of the Purkinje cell type. The degeneration of nerve fibres is considered as a complex mechanism, which is not restricted to the Wallerian type. — Only free cholesterol was shown by histochemical tests in the preserved myelin sheaths. Free and esterified cholesterol was found in the adrenal cortical cells. The lack of detactable cholesteryl esters in the sparse sudanophilic macrophages was unexpected. This finding may be attributed to the sensitivity of the histochemical method or to interference by achromogenic 7-ketocholesterol.

Key words

adrenoleukodystrophy axonal loss histochemistry 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Feigin IA (1956) A method for the histochemical differentiation of cholesterol and its esters. J Biophys Biochem Cytol 2:213PubMedCrossRefGoogle Scholar
  2. 2.
    Hoefnagel D, van den Noort S, Ingbar SH (1962) Diffuse cerebral sclerosis with endocrine abnormalities in young males. Brain 85: 553–568PubMedCrossRefGoogle Scholar
  3. 3.
    Igarashi M, Schaumburg HH, Powers J, Kishimoto Y, Kolodny E, Suzuki K (1976) Fatty acid abnormality in adrenoleukodystrophy. J Neurochem 26:851–860PubMedCrossRefGoogle Scholar
  4. 4.
    Menkes JH, Corbo LM (1977) Adrenoleukodystrophy. Accumulation of cholesterol esters with very long chain fatty acids. Neurology (Minneap) 27:928–932Google Scholar
  5. 5.
    Ramsey RB, Banik NL, Davison AN (1979) Adrenoleukodystrophy brain cholesteryl esters and other neutral lipids. J Neurol Sci 40: 189–196PubMedCrossRefGoogle Scholar
  6. 6.
    Schaumburg HH, Powers JM, Raine CS, Suzuki K, Richardson EP (1975) Adrenoleukodystrophy. A clinical and pathological study of 17 cases. Arch Neurol 32:577–591PubMedCrossRefGoogle Scholar
  7. 7.
    Schnabel R (1962) Über den topochemischen Nachweis von freiem und verestertem Cholesterin. Eine vergleichende quantitativ-chemische und histochemische Studie über die Feiginsche Reaktion. Histochemie 3:127–137CrossRefGoogle Scholar
  8. 8.
    Schnabel R (1964) Eine topochemische Methode zur Differenzierung des freien und veresterten Cholesterins. Acta Histochem 18: 161–167PubMedGoogle Scholar
  9. 9.
    Turkington RW, Stempfei RS Jr (1966) Adrenocortical atrophy and diffuse cerebral sclerosis (Addison-Schilder’s disease). J Pediatr 69:406–412PubMedCrossRefGoogle Scholar
  10. 10.
    Ulrich J (1971) Die cerebralen Entmarkungs-krankheiten im Kindesalter. Diffuse Hirnsklerosen, 4. Die sudanophile Leukodystrophie. Springer, Berlin Heidelberg New YorkGoogle Scholar
  11. 11.
    Ulrich J, Isler W (1971) Sudanophile Leukodystrophie bei Knaben und ihre Kombination mit Morbus Addison. Nervenarzt 42:378–382PubMedGoogle Scholar

Copyright information

© Springer-Verlag 1981

Authors and Affiliations

  • R. Schnabel
    • 1
    • 2
  • C. Gerhard
    • 1
  1. 1.Institute of Neuropathology BethelGermany
  2. 2.Institute of Neuropathology BethelBielefeld 13Germany

Personalised recommendations