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Restricted diffusion in Canavan disease

  • Case Report
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Abstract

Introduction

Canavan disease is a megalencephalic leukodystrophy due to deficiency of the enzyme aspartoacylase. Proton MR spectroscopy finding of elevated N-acetyl-l-aspartate is considered diagnostic of Canavan disease.

Case report

We report a case of Canavan disease, which showed restricted diffusion in diffusion-weighted imaging and discuss the cause of it.

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References

  1. Barkovich AJ (2005) Toxic and metabolic brain disorders. In: Pediatric Neuroimaging, 4th edn. Lippincott Williams & Wilkins, Philadelphia, p 130

    Google Scholar 

  2. Baslow MH (2002) Evidence supporting a role for N-acetyl-L-aspartate as a molecular water pump in myelinated neurons in the central nervous system. An analytical review. Neurochem Int 40(4):295–300

    Article  PubMed  CAS  Google Scholar 

  3. Baslow MH (2003) Brain N-acetylaspartate as a molecular water pump and its role in the etiology of Canavan disease: a mechanistic explanation. J Mol Neurosci 21(3):185–190

    Article  PubMed  CAS  Google Scholar 

  4. Chakraborthy G, Mekala P, Yahya D, Wu G, Ledeen RW (2001) Intraneuronal N-acetyl aspartate supplies acetyl groups for myelin lipid synthesis: evidence for myelin-associated aspartoacylase. J Neurochem 78(4):736–745

    Article  Google Scholar 

  5. Grodd W, Krageloh-Mann I, Peterson D, Trefz FK, Harzer K (1990) In vivo assessment of N-acetyl aspartate in brain in spongy degeneration (Canavan’s disease) by proton spectroscopy (letter). Lancet 2:437–438

    Article  Google Scholar 

  6. Harding BN, Surtees R (2002) Metabolic and neurodegenerative diseases of childhood. In: Graham DI, Lantos PL (eds) Greenfield’s neuropathology, 7th edn., vol 1. Arnold Publishers, London, pp 485–517

    Google Scholar 

  7. Kirmani BF, Jacobowitz DM, Kallarakal AT, Namboodiri MA (2002) Aspartoacylase is restricted primarily to myelin synthesizing cells in the CNS: therapeutic implications for Canavan disease. Mol Brain Res 107(2):176–182

    Article  PubMed  CAS  Google Scholar 

  8. Madhavarao CN, Arun P, Moffett JR et al (2005) Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan’s disease. Proc Natl Acad Sci USA 102(14):5221–5226

    Article  PubMed  CAS  Google Scholar 

  9. Matalon R, Matalon KM (2002) Canavan disease prenatal diagnosis and genetic counseling. Obstet Gynecol Clin North Am 29(2):297–304

    Article  PubMed  Google Scholar 

  10. Matalon R, Michals K (1999) Recent advances in Canavan disease. Adv Pediatr 46:493–506

    PubMed  CAS  Google Scholar 

  11. Matalon R, Michals-Matalon K (1999) Prenatal diagnosis of Canavan disease. Prenat Diagn 19(7):669–670

    Article  PubMed  CAS  Google Scholar 

  12. Matalon R, Michals K, Sebesta D et al (1988) Aspartoacylase deficiency and N-acetyl aspartic aciduria in patients with Canavan disease. Am J Med Genet 29:463–471

    Article  PubMed  CAS  Google Scholar 

  13. Moritani T, Ekholm, Westesson PL (2004) Brain edema. In: Diffusion-weighted MR imaging of the brain. Springer, Berlin Heidelberg New York, p 25

    Google Scholar 

  14. Sener RN (2003) Canavan disease: diffusion magnetic resonance imaging findings. J Comput Assist Tomogr 27(1):30–33

    Article  PubMed  Google Scholar 

  15. Sener RN (2004) Diffusion magnetic resonance imaging patterns in metabolic and toxic brain disorders. Acta Radiol 45:561–570

    Article  PubMed  CAS  Google Scholar 

  16. Towfighi J, Friedman Z, Maisels MJ (1977) Spongy degeneration of the central nervous system (van Bogaert–Bertrand type?) in a newborn infant. Acta Neuropathol (Berl) 37:267–270

    Article  CAS  Google Scholar 

  17. Varho T, Komu M, Sonninen P et al (1999) A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease. Neurology 52:1668–1672

    PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bangalore, 560029, India

    S. G. Srikanth, H. S. Chandrashekar, K. Nagarajan & P. N. Jayakumar

Authors
  1. S. G. Srikanth
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  2. H. S. Chandrashekar
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  3. K. Nagarajan
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  4. P. N. Jayakumar
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Correspondence to S. G. Srikanth.

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Srikanth, S.G., Chandrashekar, H.S., Nagarajan, K. et al. Restricted diffusion in Canavan disease. Childs Nerv Syst 23, 465–468 (2007). https://doi.org/10.1007/s00381-006-0238-9

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  • DOI: https://doi.org/10.1007/s00381-006-0238-9

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