Skip to main content
SpringerLink
Log in

Magnetic resonance imaging in juvenile Canavan disease

  • Neuropediatrics
  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

Abstract

We present a 2-year-old boy and a 6-year-old girl with mild Canavan disease (CD). Aspartoacylase activity in skin fibroblasts was deficient. Magnetic resonance imaging (MRI) of the brain did not show the prominent leucodystrophy previously reported in CD, but there was a hyperintense signal from the lentiform nuclei and the heads of the caudate nuclei on the T2-weighted MR images. This suggests a specific vulnerability of the corpus striatum in these patients. In the older patient, the white matter became affected at the age of 6 years. Proton magnetic resonance spectroscopy (1H-MRS) of white matter revealed a normal concentration of N-acetyl-l-aspartate (NAA) and a markedly decreased concentration of choline containing compounds (Cho) in the boy but a normal ratio of NAA to Cho in the girl. We conclude that deficient NAA catabolism affects myelin metabolism. This may present as changes in the striatum and/or as a low concentration of Cho before leucodystrophy appears on MRI.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Abbreviations

CD:

Canavan disease

Cho:

choline containing compounds

1H-MRS:

1H-magnetic resonance spectroscopy

MRI:

magnetic resonance imaging

NAA:

N-acetyl-l-aspartate

VOI:

volume of interest

References

  1. Austin SJ, Connelly A, Gadian DG, Benton JS, Brett EM (1991) Localized 1H NMR spectroscopy in Canavan's disease: a report of two cases. Magn Reson Med 19:439–445

    PubMed  Google Scholar 

  2. Bottomley PA (1987) Spatial localization in NMR spectroscopy in vivo. NY Acad Sci 508:333–348

    Google Scholar 

  3. Christensen E, Jacobsen BB, Gregersen N, Hjeds H, Pedersen JB, Brandt NJ, Bækmark UB (1981) Urinary excretion of succinylacetone and delta-aminolevulinic acid in patients with hereditary tyrosinemia. Clin Chim Acta 116:331–341

    Article  PubMed  Google Scholar 

  4. Christiansen P, Henriksen O, Stubgaard M, Gideon P, Larsson HBW (1983) In vivo quantification of brain metabolites by 1H-MRS using water as an internal standard. Magn Reson Imaging 11:107–118

    Article  Google Scholar 

  5. Divry P, Vianey-Liaud C, Gay C, Macabeo V, Rapin F, Echenne B (1988) N-acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy. J Inherited Metab Dis 11: 307–308

    Article  PubMed  Google Scholar 

  6. Edwards MK, Bonin JM (1991) White matter diseases. In: Atlas SW (ed) Magnetic resonance imaging of the brain and spine, 2nd edn. Raven Press, New York, pp 486–487

    Google Scholar 

  7. Frahm J, Michaelis T, Merboldt KD, Bruhn H, Gyngell ML, Hänicke W (1990) Improvements in localized proton NMR spectroscopy of human brain. Water suppression, short echo times, and 1 ml resolution. Magn Reson Med 90:464–473

    Google Scholar 

  8. Grodd W, Krägeloh-Mann I, Klose U, Sauter R (1991) Metabolic and destructive brain disorders in children: findings with localized proton MR spectroscopy. Radiology 181:173–181

    PubMed  Google Scholar 

  9. Hagenfeldt L, Bollgren I, Venizelos N (1987) N-acetylaspartic aciduria due to aspartoacylase deficiency — a new aetiology of childhood leukodystrophy. J Inherited Metab Dis 10:135–141

    Article  PubMed  Google Scholar 

  10. Knaap MS van der, Grond J van der, Rijen PC van, Faber JA, Valk J, Willemse K (1990) Age-dependent changes in localized proton and phosphorus MR spectroscopy of the brain. Radiology 176:509–515

    PubMed  Google Scholar 

  11. Kvittingen EA, Guldal G, Borsting S, Skalpe IO, Stokke O, Jellum E (1986) N-acetylaspartic aciduria in a child with a progressive cerebral atrophy. Clin Chim Acta 158:217–227

    Article  PubMed  Google Scholar 

  12. Marks HG, Caro PA, Wang ZY, Detre JA, Bogdan AR, Gusnard DA, Zimmerman RA (1991) Use of computed tomography, magnetic resonance imaging, and localized 1H magnetic resonance spectroscopy in Canavan's disease: a case report. Ann Neurol 30:106–110

    Article  PubMed  Google Scholar 

  13. Matalon R, Michals K, Sebesta D, Deanching M, Gashkoff P, Casanova J (1988) Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am J Med Genet 29:463–471

    Article  PubMed  Google Scholar 

  14. Matalon R, Kaul R, Casanova J, Michaels K, Johnson A, Rapin I, Gashkoff P, Deanching M (1989) SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease. J Inherited Metab Dis 12 [Suppl 2]:329–331

    Article  Google Scholar 

  15. Miller BL (1991) A review of chemical issue in 1H NMR spectroscopy: N-acetyl-L-aspartate, creatine and choline. NMR Biomed 4:47–52

    Google Scholar 

  16. Norton WT, Poduslo SE, Suzuki K (1966) Suacute sclerosing leukoencephalitis. II. Chemical studies including abnormal myelin and an abnormal ganglioside pattern. J Neuropathol Exp Neurol 25:582–597

    PubMed  Google Scholar 

  17. Valk J, Knaap MS van der (1989) Magnetic resonance of myelin, myelination and myelin disorders. Springer, Berlin Heidelberg New York, pp 137–139

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. John F. Kennedy Institute, Gl. Landevej 7, DK-2600, Glostrup, Denmark

    P. B. Toft, O. Pryds & H. C. Lou

  2. Department of Paediatrics, Universitätskinderklinik der Johannes Gutenberg-Universität, Mainz, Langenbeckstrasse 1, W-6500, Mainz, Germany

    R. Geiß-Holtorff

  3. Laboratoire de Biochimie, Hôpital Debrousse, Lyon Cédex 05, France

    M. O. Rolland

  4. Institut for Neuroradiology, Universitätskinderklinik der Johannes Gutenberg-Universität Mainz, Langenbeckstraße 1, W-6500, Mainz, Germany

    W. Müller-Forell

  5. Department of Clinical Genetics, Rigshospitalet, Blegdamsvej 9, DK-2100, Copenhagen Ø, Denmark

    E. Christensen

  6. Stoffwechsellabor der Universitätskinderklinik Freiburg, Mathildenstrasse 1, W-7800, Freiburg, Germany

    W. Lehnert

  7. Abteilung Röntgendiagnostik, Radiologische Universitätsklinik Freiburg, Hugstetterstrasse 55, W-7800, Freiburg, Germany

    D. Ott & J. Hennig

  8. The Danish Research Centre of Magnetic Resonance, Hvidovre University Hospital, Kettegaards Alle 30, DK-2650, Hvidovre, Denmark

    P. B. Toft & O. Henriksen

Authors
  1. P. B. Toft
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. R. Geiß-Holtorff
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M. O. Rolland
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. O. Pryds
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. W. Müller-Forell
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. E. Christensen
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. W. Lehnert
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. H. C. Lou
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. D. Ott
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. J. Hennig
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. O. Henriksen
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Toft, P.B., Geiß-Holtorff, R., Rolland, M.O. et al. Magnetic resonance imaging in juvenile Canavan disease. Eur J Pediatr 152, 750–753 (1993). https://doi.org/10.1007/BF01953994

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01953994

Key words

Search

Navigation