Lhermitte-Duclos Disease – a Case Report

Authors: V. Vybíhal 1;  P. Fadrus 1;  M. Duba 1;  M. Vidlák 1;  A. Šprláková-Puková 2;  L. Křen 3
Authors‘ workplace: LF MU a FN Brno Neurochirurgická klinika 1;  LF MU a FN Brno Radiologická klinika 2;  LF MU a FN Brno Ústav patologie 3
Published in: Cesk Slov Neurol N 2010; 73/106(5): 563-567
Category: Case Report


Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) is a rare benign lesion. According to the the most recent WHO classification (2007), the disease is considered a hamartoma or tumour (WHO grade 1). A number of authors incline to the opinion that it is of hamartogenous origin, basing their view on the results of recent genetic studies. Clinical symptoms of the disease include cerebellar symptoms and signs of compression of the brain stem and cranial nerves, while the disease may also be associated with intracranial hypertension syndrome. Magnetic resonance examination is the best diagnostic imaging technique, since as it reveals a unique pattern for the disorder. Dysplastic gangliocytoma of the cerebellum may be associated with Cowden disease. This is an autosomal dominant condition that results mainly from a mutation of the PTEN gene. Multiple hamartomas are specific to Cowden disease, which is associated with high risk of systemic malignancies. Radical surgery is the optimum treatment approach but may not be feasible in all cases. Genetic examination is always essential in order to exclude Cowden disease. The authors present the case report of a 32-year-old man with a history of cerebellar signs and obstructive hydrocephalus. On the basis of the results of magnetic resonance imaging, radical resection of a tumour was performed and the patient has been without signs of residuum of the tumour or recurrence since. The results of the genetic examination were negative.

Key words:
Lhermitte-Duclos disease – dysplastic gangliocytoma of the cerebellum – Cowden syndrome


1. Lhermitte J, Duclos P. Sur un ganglionneurome diffus du cortex du cervelet. Bull Assoc Fr Etud Cancer 1920; 9: 99–107.

2. Robinson S, Cohen AR. Cowden disease and ­Lhermitte-Duclos disease: an update. Case report and review of the literature. Neurosurg Focus 2006; 20(1): E6.

3. Awwad EE, Levy E, Martin DS, Merenda GO. Atypical MR appearance of Lhermitte-Duclos disease with contrast enhancement. Am J Neuroradiol 1995; 16(8): 1719–1720.

4. Moonis G, Ibrahim M, Melhem ER. Diffusion--weighted MRI in Lhermitte-Duclos disease: report of two cases. Neuroradiology 2004; 46(5): ­351–354.

5. Nagaraja S, Powell T, Griffiths P, Wilkonson ID. MR imaging and spectroscopy in Lhermitte-Duclos di­sease. Neuroradiology 2004; 46(5): 355–358.

6. Douglas-Akinwande AC, Payner TD, Hattab EM. Medulloblastoma mimicking Lhermitte-Duclos di­sease on MRI and CT. Clin Neurol Neurosurg 2009; 111(6): 536–539.

7. Pirotte B, Goldman S, Baleriaux D, Brotchi J. Fluoro­deoxyglucose and methionine uptake in ­Lhermitte-Duclos disease: case report. Neurosurgery 2002; 50(2): 404–408.

8. Ogasawara K, Beppu T, Yasuda S, Kobayashi M, Yukawa H, Ogawa A. Blood flow and oxygen meta­bolism in a case of Lhermitte-Duclos disease: results of positron emission tomography. J Neurooncol 2001; 55(1): 59–61.

9. Ogasawara K, Yasuda S, Beppu T, ­Kobayashi M, Doi M, Kuroda K et al. Brain PET and ­technetium-99m-ECD SPECT imaging in ­Lhermitte-Duclos disease. Neuroradiology 2001; 43(11): ­993–996.

10. Nowak DA, Trost HA. Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm? Acta Neurol Scand 2002; 105(3): 137–145.

11. Lloyd KK II, Dennis M. Cowden’s disease. A possible new symptom complex with multiple system involvement. Ann Intern Med 1963; 58: 136–142.

12. Liaw D, Marsh DJ, Li J, Dahia PL, Wang SI, Zheng Z et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 1997; 16(1): 64–67.

13. Abel TW, Baker SJ, Fraser MM, Tihan T, Nelson JS, Yachnis AT et al. Lhermitte-Duclos Disease: a report of 31 cases with immunohistochemical analysis of the PTEN/AKT/mTOR pathway. J Neuropath Exp Neurol 2005; 64(4): 341–349.

14. Padberg GW, Schot JD, Vielvoye GJ, Bots GT, de Beer FC. Lhermitte-Duclos disease and Cowden disease: a single phakomatosis. Ann Neurol. 1991; 29(5): ­517–523.

15. Hashimoto H, Iida J, Masui K, Nishi N, Sakaki T. Recurrent Lhermite-Duclos disease – case report. Neurol Med Chir (Tokyo) 1997; 37(9): 692–696.

Paediatric neurology Neurosurgery Neurology

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Czech and Slovak Neurology and Neurosurgery

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