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European Journal of Pediatrics

, Volume 152, Issue 9, pp 750–753 | Cite as

Magnetic resonance imaging in juvenile Canavan disease

  • P. B. Toft
  • R. Geiß-Holtorff
  • M. O. Rolland
  • O. Pryds
  • W. Müller-Forell
  • E. Christensen
  • W. Lehnert
  • H. C. Lou
  • D. Ott
  • J. Hennig
  • O. Henriksen
Neuropediatrics

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.

Key words

Magnetic resonance imaging Spectroscopy Imaging, Canavan disease Brain 

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

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References

  1. 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 19:439–445PubMedGoogle Scholar
  2. 2.
    Bottomley PA (1987) Spatial localization in NMR spectroscopy in vivo. NY Acad Sci 508:333–348Google Scholar
  3. 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 116:331–341CrossRefPubMedGoogle Scholar
  4. 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 11:107–118CrossRefGoogle Scholar
  5. 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: 307–308CrossRefPubMedGoogle Scholar
  6. 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 486–487Google Scholar
  7. 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 90:464–473Google Scholar
  8. 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 181:173–181PubMedGoogle Scholar
  9. 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 10:135–141CrossRefPubMedGoogle Scholar
  10. 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 176:509–515PubMedGoogle Scholar
  11. 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 158:217–227CrossRefPubMedGoogle Scholar
  12. 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 30:106–110CrossRefPubMedGoogle Scholar
  13. 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 29:463–471CrossRefPubMedGoogle Scholar
  14. 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]:329–331CrossRefGoogle Scholar
  15. 15.
    Miller BL (1991) A review of chemical issue in 1H NMR spectroscopy: N-acetyl-L-aspartate, creatine and choline. NMR Biomed 4:47–52Google Scholar
  16. 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 25:582–597PubMedGoogle Scholar
  17. 17.
    Valk J, Knaap MS van der (1989) Magnetic resonance of myelin, myelination and myelin disorders. Springer, Berlin Heidelberg New York, pp 137–139Google Scholar

Copyright information

© Springer-Verlag 1993

Authors and Affiliations

  • P. B. Toft
    • 1
    • 8
  • R. Geiß-Holtorff
    • 2
  • M. O. Rolland
    • 3
  • O. Pryds
    • 1
  • W. Müller-Forell
    • 4
  • E. Christensen
    • 5
  • W. Lehnert
    • 6
  • H. C. Lou
    • 1
  • D. Ott
    • 7
  • J. Hennig
    • 7
  • O. Henriksen
    • 8
  1. 1.John F. Kennedy InstituteGlostrupDenmark
  2. 2.Department of PaediatricsUniversitätskinderklinik der Johannes Gutenberg-Universität, MainzMainzGermany
  3. 3.Laboratoire de BiochimieHôpital DebrousseLyon Cédex 05France
  4. 4.Institut for NeuroradiologyUniversitätskinderklinik der Johannes Gutenberg-Universität MainzMainzGermany
  5. 5.Department of Clinical GeneticsRigshospitaletCopenhagen ØDenmark
  6. 6.Stoffwechsellabor der Universitätskinderklinik FreiburgFreiburgGermany
  7. 7.Abteilung RöntgendiagnostikRadiologische Universitätsklinik FreiburgFreiburgGermany
  8. 8.The Danish Research Centre of Magnetic ResonanceHvidovre University HospitalHvidovreDenmark

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