Pediatric Radiology

, Volume 36, Issue 1, pp 61–64 | Cite as

Krabbe disease: unusual MRI findings

  • Veena A. NagarEmail author
  • Meher A. Ursekar
  • Pradeep Krishnan
  • Bhavin G. Jankharia
Case Report


We present the MRI findings in a case of infantile-onset Krabbe disease. Enlargement of the intracranial optic nerves and cervical cord were detected in addition to more typical changes in the cerebral white matter and thalami. We also review the proton MR spectroscopic findings in Krabbe disease.


Krabbe disease Brain Optic nerves MRI MR spectroscopy Child 


  1. 1.
    Bernardi B, Fonda C, Franzoni E, et al (1994) MRI and CT in Krabbe's disease: case report. Neuroradiology 36:477–479CrossRefPubMedGoogle Scholar
  2. 2.
    Zlotogora J, Chakraborty S, Knowlton RG, et al (1990) Krabbe's disease locus mapped to chromosome 14 by genetic linkage. Am J Hum Genet 47:37–44PubMedGoogle Scholar
  3. 3.
    Volpe JJ (1995) Neurology of the newborn. Saunders, Philadelphia, pp 573–574Google Scholar
  4. 4.
    Kwan E, Drace J, Enzmann D (1984) Specific CT findings in Krabbe's disease. Am J Neuroradiol 5:453–458Google Scholar
  5. 5.
    Farina L, Bizzi A, Finocchiaro G, et al (2000) MR imaging and proton MR spectroscopy in adult Krabbe disease. Am J Neuroradiol 21:1478–1482PubMedGoogle Scholar
  6. 6.
    Jones BV, Barron TF, Towfighi J (1999) Optic nerve enlargement in Krabbe's disease. Am J Neuroradiol 20:1228–1231PubMedGoogle Scholar
  7. 7.
    Baram TZ, Goldman AM, Percy AK (1986) Krabbe disease: specific MRI and CT findings. Neurology 36:111–115PubMedGoogle Scholar
  8. 8.
    Feanny SJ, Chuang SH, Becker LE, et al (1987) Intracerebral paraventricular hyperdensities: a new CT sign in Krabbe globoid cell leukodystrophy. J Inherit Metab Dis 10:24–27CrossRefPubMedGoogle Scholar
  9. 9.
    Barkovich JA (2000) Pediatric neuroimaging, 3rd edn. Lippincott Williams & Wilkins, Philadelphia, pp 76–77Google Scholar
  10. 10.
    Krabbe K (1916) A new familial, infantile form of diffuse brain-sclerosis. Brain 39:73–114CrossRefGoogle Scholar
  11. 11.
    Ieshima A, Eda I, Matsui A, et al (1983) Computed tomography in Krabbe's disease: comparison with neuropathology. Neuroradiology 25:323–327CrossRefPubMedGoogle Scholar
  12. 12.
    Hittmair K, Wimberger D, Wiesbauer P, et al (1994) Early infantile form of Krabbe disease with optic hypertrophy: serial MR examinations and autopsy correlation. Am J Neuroradiol 15:1454–1458PubMedGoogle Scholar
  13. 13.
    Vasconcellos E, Smith M (1998) MRI nerve root enhancement in Krabbe disease. Pediatr Neurol 19:151–152CrossRefPubMedGoogle Scholar
  14. 14.
    Given CA II, Santos CC, Durden DD (2001) Intracranial and spinal MR imaging findings associated with Krabbe's disease: case report. Am J Neuroradiol 22:1782–1785PubMedGoogle Scholar
  15. 15.
    Zarifi MK, Tzika AA, Astrakas LG, et al (2001) Magnetic resonance spectroscopy and magnetic resonance imaging findings in Krabbe's disease. J Child Neurol 16:522–526PubMedCrossRefGoogle Scholar
  16. 16.
    Tzika AA, Vigneron DB, Ball WS Jr, et al (1993) Localized proton MR spectroscopy of the brain in children. J Magn Reson Imaging 3:719–729PubMedCrossRefGoogle Scholar
  17. 17.
    Brockmann K, Dechent P, Wilken B, et al (2003) Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease. Neurology 60:819–825PubMedGoogle Scholar

Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Veena A. Nagar
    • 1
    Email author
  • Meher A. Ursekar
    • 1
  • Pradeep Krishnan
    • 1
  • Bhavin G. Jankharia
    • 1
  1. 1.Jankharia Imaging CentreMumbaiIndia

Personalised recommendations