Advertisement

Neuroradiology

, Volume 33, Issue 1, pp 30–37 | Cite as

The MR spectrum of peroxisomal disorders

  • M. S. van der Knaap
  • J. Valk
Originals

Summary

In the last decade an increasing number of peroxisomal disorders has been recognized. Almost all peroxisomal disorders affect the central nervous system. Many of them lead to demyelination, some of them lead to migrational disturbances. The MR pattern of X-linked adrenoleukodystrophy is well known, but the pattern of the other peroxisomal disorders is less well known. We evaluated the gray and white matter abnormalities of 20 patients on 32 occasions. We compared the results with histological data and in this way came to the description of a number of characterisitc MR patterns occurring in peroxisomal disorders: (1) Neuronal migrational disturbances in combination with hypomyelination, dysmyelination or demyelination. (2) Symmetrical demyelination of posterior limb of the internal capsule, cerebellar white matter and brain stem tracts with a variable affection of cerebral hemispheres. (3) Symmetrical demyelination, exhibiting two zones, starting in the occipital area and spreading outwards and forwards; affection of brain stem tracts. (4) Less characteristic patterns of demyelination. The patterns are illustrated and differentiation from other disorders is discussed.

Key words

Peroxisomal disorders MRI patterns 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Rhodin J (1954) Correlation of ultrastructural organization and function in normal and experimentally changed proximal convoluted tubule cells of the mouse kidney. PhD thesis. Stockholm, Aktiebolaget Godvil, p 76Google Scholar
  2. 2.
    DeDuve C, Beautay H, Jacques P et al. (1960) Intracellular localization of catalase and of some oxidase in rat liver. Biochem Biophys Acta 40:186–187Google Scholar
  3. 3.
    Lazarow PB (1987) The role of peroxisomes in mammalian cellular metabolism. J. Inher Metab Dis [Suppl 1] 10:11–22Google Scholar
  4. 4.
    Wanders RJA, Heymans HSA, Schutgens RBH, Barth PG, Van den Bosch H, Tager JM (1988) Peroxisomal disorders in neurology. J Neurol Sci 88:1–39Google Scholar
  5. 5.
    Monnes L Heymans H (1987) Peroxisomal disorders: clinical characterization. J Inher Metab Dis [Suppl 1] 10:23–32Google Scholar
  6. 6.
    Naidu S, Moser AE, Moser HW (1988) Phenotypic and genotypic variablity of generalized peroxisomal disorders. Pediatr Neurol 4:5–12Google Scholar
  7. 7.
    Sereni C, Paturneau-Jonas M (1989) Peroxisomes et pathologie neurologique. Rev Neurol 145:341–349Google Scholar
  8. 8.
    Van der Knaap MS, Valk J (1989) MR of adrenoleukodystrophy: histopathologic correlations. AJNR 10:S12-S14Google Scholar
  9. 9.
    Kumar AJ, Rosenbaum AE, Naidu S et al. (1987) Adrenoleukodystrophy: correlating MR imaging with CT. Radiology 165:497–504Google Scholar
  10. 10.
    Jensen ME, Sawyer RW, Braun IF, Rizzo WB (1990) MR imaging appearance of childhood adrenoleukodystrophy with auditory visual and motor pathway involvement. Radiographics 10:53–66Google Scholar
  11. 11.
    Santos MJ, Imanaka T, Shio H, Small GM, Lazarow PB (1988) Peroxisomal membrane ghosts in Zellweger syndrome-aberrant organelle assembly. Science 239:1536–1539Google Scholar
  12. 12.
    Small GM, Santos MJ, Imanaka T, Poulos A, Danks DM, Moser HW, Lazarow PB (1988). Peroxisomal integral membrane proteins in livers of patients with Zellweger synchrome, infantile Refsum's disease and X-linked adrenoleukodystrophy. J Inher Metab Dis 11:358–371Google Scholar
  13. 13.
    Goldfischer S, Moore CL, Johnson AB et al. (1973) Peroxisomal and mitochondrial defects in the cerebrohepatorenal syndrome. Science 182:62–64Google Scholar
  14. 14.
    Heymans HSA, Oorthuys JWE, Nelck G, Wanders RJA, Dingeman KP, Schutgens RBH (1986) Peroxisomal abnormalities in rhizomelic chondrodysplasia punctata. J Inher Metab Dis [Suppl 2] 9:329–331Google Scholar
  15. 15.
    Goldfischer S, Collins J, Rapin I et al. (1986) Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities. J Pediatr 108:25–32Google Scholar
  16. 16.
    Poll-The BT, Roels F, Ogier H et al. (1988) A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). Am J Hum Genet 42:422–434Google Scholar
  17. 17.
    Valk J, van der Knaap MS (1989) MR of myelin, myelination and myelin disorders. Springer, Berlin Heidelberg New York, pp 97–127Google Scholar
  18. 18.
    Barth PG, Schutgens RBH, Bakkeren JAJM et al. (1985) A milder variant of Zellweger syndrome. Eur J Pediatr 144:338–342Google Scholar
  19. 19.
    Schaumburg HH, Powers JM, Raine CS, Suzuki K, Richardson EP (1975) Adrenoleukodystrophy: A clinical and pathological study of 17 cases. Arch Neurol 32:577–591Google Scholar
  20. 20.
    Powell H, Tindall R, Schultz P, Paa D, O'Brien J, Lampert P (1975) Adrenoleukodystrophy: electron microscopic findings. Arch Neurol 32:250–260Google Scholar
  21. 21.
    Schaumburg HH, Powers JM, Raine CS et al. (1977) Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. II. General pathologic, neuropathologic and biochemical aspects. Neurology 27:1114–1119Google Scholar
  22. 22.
    Schlote W, Molzer B, Peiffer J, Poremba M, Schumm F, Harzer K, Schnabel R, Bernheimer H (1987) Adrenoleukodystrophy in an adult female. A clinical, morphological and neurochemical study. J Neurol 235:1–9Google Scholar
  23. 23.
    Molzer B, Bernheimer H, Budka H, Pilz P, Toifl K (1981) Accumulation of very long chain fatty acids is common to 3 variants of adrenoleukodystrophy (ALD): classical ALD, atypical ALD (female patient) and adrenomyeloneuropathy. J Neurol Sci 51:301–310Google Scholar
  24. 24.
    Pilz P, Schiener P (1973) Kombination von Morbus Addison und Morbus Schilder bei einer 43jährigen Frau. Acta Neuropathol 26:357–360Google Scholar
  25. 25.
    Flament-Durand J, Noel P, Rutsaert J, Toussaint D, Malmendier C, Lyon G (1971) A case of Refsums's disease: clinical, pathological, ultrastructural and biochemical study. Pathol Eur 6:172–191Google Scholar
  26. 26.
    Cammermeyer J (1956) Neuropathological changes in hereditary neuropathies: manifestation of the syndrome heredopathia atactica polyneuritiformis in the presence of interstitial hypertrophic polyneuropathy. J Neuropathol Exp Neurol 15:340–367Google Scholar
  27. 27.
    Gilbert EF, Opitz JM, Spranger JW, Langer LO, Justin JW, Visekul C (1976) Chondrodysplasia punctata-rhizomelic form. Pathologic and radiologic studies of three infants. Eur J Pediat 123:89–109Google Scholar
  28. 28.
    Suzuki Y, Shimozawa N, Orii T, Igarashi N, Kono N, Hashimoto T (1988) Molecular analysis of peroxisomal β-oxidation enzymes in infants with Zellweger syndrome and Zellweger-like syndrome: further heterogeneity of the peroxisomal disorders. Clin Chim Acta 172:65–76Google Scholar
  29. 29.
    Agamanolis DP, Robinson HB, Timmons GD (1976) Cerebrohepatorenal syndrome. Report of a case with histochemical and ultrastructural observations. J Neuropathol Exp Neurol 35:226–246Google Scholar
  30. 30.
    Agamanolis DP, Patre S (1979) Glycon acumulation in the central nervous system in the cerebrohepatorenal syndrome. J Neurol Sci 41:325–342Google Scholar
  31. 31.
    Volpe JJ, Adams RD (1972) Cerebrohepatorenal syndrome of Zellweger: an inherited disorder of neuronal migration. Acta Neuropathol 20:175–198Google Scholar
  32. 32.
    De Léon GA, Grover WD, Huff DS, Morinigo-Mestre G, Punnett HH, Kistenmacher ML (1977) Globoid cells, glial nodules and peculiar fibrillary changes in the cerebrohepatorenal syndrome of Zellweger. Ann Neurol 2:473–484Google Scholar
  33. 33.
    Passarge E, McAdams AJ (1967) Cerebrohepatorenal syndrome. J Pediatr 71:691–702Google Scholar
  34. 34.
    Kelly RI, Datta NS, Dobyns WB, Hajra AK, Moser AB, Noetzel MJ, Zackai EH, Moser HW (1986) Neonatal adrenoleukodystrophy: new cases, biochemical studies and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. Am J Med Genet 23:869–901Google Scholar
  35. 35.
    Aubourg P, Scotto J, Rocchiccioli F, Feldmann-Pautrat D, Robain O (1986) Neonatal adrenoleukodystrophy. J Neurol Neurosurg Psychiatry 49:77–86Google Scholar
  36. 36.
    Torvik 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 85:39–53Google Scholar
  37. 37.
    Challa VR, Geisinger KR, Burton B (1983) Pathologic alterations in the brain and liver in hyperpipecolic acidemia. J Neuropathol Exp Neurol 42:627–638Google Scholar
  38. 38.
    Gatfield PD, Taller E, Hinton GG, Wallace AC, Abdelnour GM, Haust MD (1968) Hyperpipecolatemia: a new metabolic disorder associated with neuropathy and hepatomegaly: a case study. Can Med Assoc J 99:1215–1233Google Scholar
  39. 39.
    Titelbaum DS, Hayward JC, Zimmerman RA (1989) Pachygyriclike changes: topographic appearance at MR imaging and CT and correlation with neurologic status. Radiology 173:663–667Google Scholar
  40. 40.
    Barth PG (1987) Disorders of neuronal migration. Can J Neurol Sci 14:1–16Google Scholar
  41. 41.
    Fiorelli M, DiPiero V, Bastianello S, Bozzao L, Federico A (1990) Cerebrotendinous xanthomatosis: clinical and MRI study (a case report). J Neurol Neurosurg Psychiatry 53:76–78Google Scholar
  42. 42.
    Menkes JH (1970) Cerebrotendinous xanthomatosis. In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology, vol 10. North Holland Publishing Company. Amsterdam, pp 532–541Google Scholar
  43. 43.
    Bruyn GW (1977) Bassen-Kornzweig disease. In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology, vol 29. North Holland Publishing Company, Amsterdam, pp 401–427Google Scholar
  44. 44.
    Oftebro H, Björkhem I, Skrede S, Schreine A, Pedersen J (1980) Cerebrotendinous xanthomatosis, a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid. J Clin Invest 65:1418–1436Google Scholar
  45. 45.
    Goldfischer S (1982) Peroxisomes and human metabolic diseases; the cerebrohepatorenal syndrome (CHRS), cerebrotendinous xanthomatosis and Schilder's disease (adrenoleukodystrophy). Am NY Acad Sci 386:526–529Google Scholar
  46. 46.
    Goldfischer S, Reddy JK (1984) Peroxisomes (microbodies) in cell pathology. Int Rev Exp Pathol 26:45–84Google Scholar
  47. 47.
    Reddy JK, Warren JR, Reddy MK, Lalwani ND (1982) Hepatic and renal effects of peroxisome proliferators: biological implications. Am NY Acad Sci 386:81–110Google Scholar

Copyright information

© Springer-Verlag 1991

Authors and Affiliations

  • M. S. van der Knaap
    • 1
  • J. Valk
    • 2
  1. 1.Department of Child NeurologyUniversity Hospital for children “Wilhelmina Kinderziekenhuis”UtrechtThe Netherlands
  2. 2.Department of Diagnostic Radiology and NeuroradiologyFree University HospitalAmsterdamThe Netherlands

Personalised recommendations