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Neuroradiology

, Volume 46, Issue 5, pp 355–358 | Cite as

MR imaging and spectroscopy in Lhermitte-Duclos disease

  • S. NagarajaEmail author
  • T. Powell
  • P. D. Griffiths
  • I. D. Wilkinson
Diagnostic Neuroradiology

Abstract

Lhermitte-Duclos disease is a rare abnormality occurring in the cerebellum with only 130 cases reported in the literature. There is debate as to whether this abnormality is a hamartoma, a malformation or a tumour. In this case report we discuss the spectroscopy findings from two patients presenting with this disease. The patients, one 40-year-old Caucasian woman with a 6-year history of headaches, unsteady gait and falls, deterioration in vision and another 28-year-old Caucasian man with a 1-year history of headaches and a previous history of a transient stroke, were found to have this lesion in the cerebellum. Proton spectroscopic data were obtained using a single-voxel PRESS technique (TE=135 ms, TR=1600 ms), from the region of the abnormality. The results were expressed as ratios under the three prominent resonances representing choline (Cho), creatine (Cr), and N-acetyl (NA) moieties. The metabolite ratios were compared to normative data. The two cases demonstrated reduced ratios in NA/Cho and NA/Cr in relation to the controls. The ratios of Cho/Cr appeared closer to the normal mean ratio. There were peaks attributable to lactate in both cases. The low NA/Cr and NA/Cho ratios could be due to the apparent lack of neuronal architecture and the presence of embryonic neural tissue, which does not express NA, indicating more favourably towards a ‘benign’ hamartoma rather than a tumour.

Keywords

Lhermitte-Duclos disease MR spectroscopy MR imaging 

References

  1. 1.
    Ashley DG, Zee CS, Chandrasoma PT, Segall HD (1990) Lhermitte-Duclos disease: CT and MR findings. J Comput Assist Tomogr 14:984–987PubMedGoogle Scholar
  2. 2.
    Klisch J, Juengling F, Spreer J, Koch D, Thiel T, Buchert M, Arnold S, Feuerhake F, Schumacher M (2001) Lhermitte-Duclos disease: assessment with MR imaging, positron emission tomography, single-photon emission CT, and MR spectroscopy. AJNR Am J Neuroradiol 22:824–830PubMedGoogle Scholar
  3. 3.
    Murray C, Shipman P, Khangure M, Chakera T, Robbins P, McAuliffe W, Davis S (2001) Lhermitte-Duclos disease associated with Cowden’s syndrome: case report and literature review. Australas Radiol 45:343–346CrossRefPubMedGoogle Scholar
  4. 4.
    Nowak DA, Trost HA, Porr A, Stolzle A, Lumenta CB (2001) Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum). Clin Neurol Neurosurg 103:105–110CrossRefPubMedGoogle Scholar
  5. 5.
    Roski RA, Roessmann U, Spetzler RF, Kaufman B, Nulsen FE (1981) Clinical and pathological study of dysplastic gangliocytoma. Case report. J Neurosurg 55:318–321PubMedGoogle Scholar
  6. 6.
    Nowak DA, Trost HA (2002) Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm? Acta Neurol Scand 105:137–145CrossRefPubMedGoogle Scholar
  7. 7.
    Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C (1996) Localization of the gene for Cowden disease to chromosome 10q22–23. Nat Genet 13:114–116PubMedGoogle Scholar
  8. 8.
    Albrecht S, Haber RM, Goodman JC, Duvic M (1992) Cowden syndrome and Lhermitte-Duclos disease. Cancer 70:869–876PubMedGoogle Scholar
  9. 9.
    Padberg GW, Schot JD, Vielvoye GJ, Bots GT, de Beer FC (1991) Lhermitte-Duclos disease and Cowden disease: a single phakomatosis. Ann Neurol 29:517–523PubMedGoogle Scholar
  10. 10.
    DiLiberti JH (1998) Inherited macrocephaly-hamartoma syndromes. Am J Med Genet 79:284–290CrossRefPubMedGoogle Scholar
  11. 11.
    Liaw D, Marsh DJ, Li J, Dahia PL, Wang SI, Zheng Z, Bose S, Call KM, Tsou HC, Peacocke M, Eng C, Parsons R (1997) Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 16:64–67PubMedGoogle Scholar
  12. 12.
    Sutphen R, Diamond TM, Minton SE, Peacocke M, Tsou HC, Root AW (1999) Severe Lhermitte-Duclos disease with unique germline mutation of PTEN. Am J Med Genet 82:290–293CrossRefPubMedGoogle Scholar
  13. 13.
    Howe FA, Barton SJ, Cudlip SA, Stubbs M, Saunders DE, Murphy M, Wilkins P, Opstad KS, Doyle VL, McLean MA, Bell BA, Griffiths JR (2003) Metabolic profiles of human brain tumors using quantitative in vivo 1H magnetic resonance spectroscopy. Magn Reson Med 49:223–232CrossRefPubMedGoogle Scholar
  14. 14.
    Wang Z, Sutton LN, Cnaan A, Haselgrove JC, Rorke LB, Zhao H, Bilaniuk LT, Zimmerman RA (1995) Proton MR spectroscopy of pediatric cerebellar tumors. AJNR Am J Neuroradiol 16:1821–1833PubMedGoogle Scholar
  15. 15.
    Wilken B, Helms G, Christen HJ, Behnke J, Frahm J, Hanefeld F (1996) Localized proton magnetic resonance spectroscopy of a cerebellar tumor in a two-year-old child. Childs Nerv Syst 12:626–629PubMedGoogle Scholar
  16. 16.
    Fountas KN, Kapsalaki EZ, Gotsis SD, Kapsalakis JZ, Smisson HF3, Johnston KW, Robinson JS, Jr., Papadakis N (2000) In vivo proton magnetic resonance spectroscopy of brain tumors. Stereotact Funct Neurosurg 74:83–94CrossRefPubMedGoogle Scholar
  17. 17.
    Harting I, Hartmann M, Jost G, Sommer C, Ahmadi R, Heiland S, Sartor K (2003) Differentiating primary central nervous system lymphoma from glioma in humans using localised proton magnetic resonance spectroscopy. Neurosci Lett 342:163–166CrossRefPubMedGoogle Scholar
  18. 18.
    Vuori K, Kankaanranta L, Hakkinen AM, Gaily E, Valanne L, Granstrom ML, Joensuu H, Blomstedt G, Paetau A, Lundbom N (2004) Low-grade gliomas and focal cortical developmental malformations: differentiation with proton MR spectroscopy. Radiology 230:703–708PubMedGoogle Scholar

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • S. Nagaraja
    • 1
    Email author
  • T. Powell
    • 1
  • P. D. Griffiths
    • 1
  • I. D. Wilkinson
    • 1
  1. 1.Academic Unit of RadiologyRoyal Hallamshire Hospital

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