Lhermitte-Duclos disease with atypical vascularization - Case report and review of the literature

Clinical Neuropathology

Volumn 28, Issue 2, 2009, Pages 83-90

  Andres, R H ^a,b   Guzman, R ^a,b   Weis, J ^a,c   Brekenfeld, C ^a   Fandino, J ^a   Seiler, R W ^a  

^a UNIVERSITY OF BERN   (Switzerland)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

Author keywords

Cerebellum; Dysplastic gangliocytoma; Lhermitte Duclos disease; Posterior fossa; Tumor

Indexed keywords

ADULT; ARTICLE; ATAXIA; BRAIN ANGIOGRAPHY; CANCER SURGERY; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CRANIOTOMY; DYSMETRIA; HEADACHE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYDROCEPHALUS; LHERMITTE DUCLOS DISEASE; MALE; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; TUMOR BIOPSY; TUMOR GROWTH; TUMOR VASCULARIZATION; VOMITING; CEREBELLUM; CEREBELLUM TUMOR; CONGENITAL TUMOR; DISEASE COURSE; MIDDLE AGED; PATHOLOGY; PATHOPHYSIOLOGY; REVIEW; VASCULARIZATION;

CEREBELLAR NEOPLASMS; CEREBELLUM; DISEASE PROGRESSION; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; HYDROCEPHALUS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED;

EID: 65349141293     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: 10.5414/npp28083     Document Type: Article

References (73)

1. Ambler M, Pogacar S, Sidman R. Lhermitte-Duclos disease (granule cell hypertrophy of the cerebellum): pathological analysis of the first familial cases. J Neuropathol Exp Neurol. 1969; 28: 622-647.
2. Ashley DG, Zee CS, Chandrasoma PT, Segall HD. Lhermitte-Duclos disease: CT and MR findings. J Comput Assist Tomogr. 1990; 14: 984-987.
3. Awwad EE, Levy E, Martin DS,Merenda GO. Atypical MR appearance of Lhermitte-Duclos disease with contrast enhancement. AJNR Am J Neuroradiol. 1995; 16: 1719-1720.
4. Backman SA, Stambolic V, Suzuki A, Haight J, Elia A, Pretorius J, TsaoMS, Shannon P, Bolon B, Ivy GO, Mak TW. Deletion of PTEN in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease. Nat Genet. 2001; 29: 396-403.
5. Backman S, StambolicV,Mak T. PTENfunction in mammalian cell size regulation. Curr Opin Neurobiol. 2002; 12: 516-522.
6. Beuche W, Wickboldt J, Friede RL. Lhermitte-Duclos disease - its minimal lesions in electron microscope data and CT findings. Clin Neuropathol. 1983; 2: 163-170.
7. Brownstein MH, Mehregan AH, Bilowski JB. Trichilemmomas in Cowden's disease. JAMA. 1977; 238: 26.
8. Buhl R, Barth H, Hugo HH, Straube T, Mehdorn HM. Dysplastic gangliocytoma of the cerebellum: rare differential diagnosis in space occupying lesions of the posterior fossa. Acta Neurochir (Wien). 2003; 145: 509-512.
9. Capone Mori A, Hoeltzenbein M, Poetsch M, Schneider JF, Brandner S, Boltshauser E. Lhermitte-Duclos disease in 3 children: a clinical long-term observation. Neuropediatr. 2003; 34: 30-35.
10. Chilovi F, Zancanella L, Perino F,Wallnoefer W, Vigl EE, Colombetti V, Dobrilla G. Cowden's disease with gastrointestinal polyposis. Gastrointest Endosc. 1990; 36: 323-324.
11. Choudhury AR. Pre-operative magnetic resonance imaging in Lhermitte-Duclos disease. Br J Neurosurg. 1990; 4: 225-229.
12. da Silva AA, Banerjee T, Coimbra RL. Lhermitte-Duclos disease (cerebellar gangliocytoma). South Med J. 1996; 89: 1208-1212.
13. Delatycki MB, Danks A,Churchyard A, Zhou XP, Eng C. De novo germline PTEN mutation in aman with Lhermitte-Duclos diseasewhich arose on the paternal chromosome and was transmitted to his child with polydactyly and wormian bones. J Med Genet. 2003; 40: E92.
14. Demaerel P, Van Calenbergh F, Wilms G. Lhermitte-Duclos disease: a tumour or not a tumour. Acta Neurol Scand. 2003; 108: 294-295.
15. Derrey S, Proust F, Debono B, Langlois O, Layet A, Layet V, Longy M, Freger P, Laquerriere A. Association between Cowden syndrome and Lhermitte-Duclos disease: report of two cases and review of the literature. Surg Neurol. 2004; 61: 447-454.
16. Devlin MF, Barrie R, Ward-Booth RP. Cowden's disease: a rare but important manifestation of oral papillomatosis. Br J Oral Maxillofac Surg. 1992; 30: 335-336.
17. Dietlein M, Schroder R, Widemann B, Benz-Bohm G. Dysplastic gangliocytoma of cerebellum in a newborn. Diagnosis by ultrasonography andMRI. Pediatr Radiol. 1992; 22: 131-133.
18. Farhadi MR, Rittierodt M, Stan A, Capelle HH, Tham-Mucke B, Krauss JK. Intramedullary ependymoma associated with Lhermitte-Duclos disease and Cowden's syndrome. Clin Neurol Neurosurg. 2007; 109: 692-697.
19. Ferrer I, Marti E, Guionnet N, Bella R, Serrano T, Towse J, Conesa G, Isamat F. Studies with the Golgi method in central gangliogliomas and dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). Histol Histopathol. 1990; 5: 329-336.
20. Gessaga EC. Lhermitte-Duclos disease (diffuse hypertrophy of the cerebellum). Report of two cases. Neurosurg Rev. 1980; 3: 151-158.
21. Hashimoto H, Iida J, Masui K, Nishi N, Sakaki T. Recurrent Lhermitte-Duclos disease - case report. Neurol Med Chir (Tokyo). 1997; 37: 692-696.
22. Hemmings CT. Thyroid pathology in four patients with Cowden's disease. Pathology. 2003; 35: 311-314.
23. Inoue T, Nishimura S, Hayashi N, Numagami Y, Kaimori M, Nishijima M. Ectopic recurrence of dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease): a case report. Brain Tumor Pathol. 2007; 24: 25-29.
24. Ishizaki K, Daita G, Yonemasu Y, Kunimoto M, Miyokawa N. Hypervascularity in Lhermitte-Duclos disease - case report. Neurol Med Chir (Tokyo). 1997; 37: 403-406.
25. Klisch J, Juengling F, Spreer J, Koch D, Thiel T, Buchert M, Arnold S, Feuerhake F, Schumacher M. Lhermitte-Duclos disease: assessment with MR imaging, positron emission tomography, single-photon emission CT, MR spectroscopy. AJNR Am J Neuroradiol. 2001; 22: 824-830.
26. Kulkantrakorn K, Awwad EE, Levy B, Selhorst J. B, Cole HO, Leake D, Gussler JR, Epstein AD, Malik MM. MRI in Lhermitte-Duclos disease. Neurology. 1997; 48: 725-731.
27. Kumar R, Vaid VK, Kalra SK. Lhermitte-Duclos disease. Childs Nerv Syst. 2007; 23: 729-732.
28. Li J, Yen C, Liaw D, Podsypanina K, Bose S, Wang SI, Puc J, Miliaresis C, Rodgers L, McCombie R, Bigner SH, Giovanella BC, Ittmann M, Tycko B, Hibshoosh H, Wigler MH, Parsons R. PTEN, a putative protein tyrosine phosphatase genemutated in human brain, breast, prostate cancer. Science. 1997; 275: 1943-1947.
29. Lindboe CF, Helseth E, Myhr G. Lhermitte-Duclos disease and giant meningioma as manifestations of Cowden's disease. Clin Neuropathol. 1995; 14: 327-330.
30. Lloyd KM, Dennis M. Cowden's disease. A possible new symptom complex with multiple system involvement. Ann Intern Med. 1963; 58: 136-142.
31. Lopiccolo J, Ballas MS, Dennis PA. PTEN hamartomatous tumor syndromes (PHTS): rare syndromes with great relevance to common cancers and targeted drug development. Crit Rev Oncol Hematol. 2007; 63: 203-214.
32. Lyons CJ, Wilson CB, Horton JC. Association between meningioma and Cowden's disease. Neurology. 1993; 43: 1436-1437.
33. Maehama T. PTEN: its deregulation and tumorigenesis. Biol Pharm Bull. 2007; 30: 1624-1627.
34. Marano SR, Spetzler RF. Lhermitte-Duclos disease. J Neurosurg. 1984; 61: 617-618.
35. Marano SR, Johnson PC, Spetzler RF. Recurrent Lhermitte-Duclos disease in a child. Case report. J Neurosurg. 1988; 69: 599-603.
36. Milbouw G, Born JD, Martin D, Collignon J, Hans P, Reznik M, Bonnal J. Clinical and radiological aspects of dysplastic gangliocytoma (Lhermitte-Duclos disease): a report of two cases with review of the literature. Neurosurgery. 1988; 22: 124-128.
37. Murray C, Shipman P, KhangureM, Chakera T, Robbins P, McAuliffeW, Davis S. Lhermitte-Duclos disease associated with Cowden's syndrome: case report and literature review. Australas Radiol. 2001; 45: 343-346.
38. Nagaraja S, Powell T, Griffiths PD, Wilkinson ID. MR imaging and spectroscopy in Lhermitte-Duclos disease. Neuroradiology. 2004; 46: 355-358.
39. Nakagawa T, Maeda M, Kato M, Terada N, Shimizu S, Morooka Y, Nakano H, Takeda K. A case of Lhermitte-Duclos disease presenting high FDG uptake on FDGPET/CT. J Neurooncol. 2007; 84: 185-188.
40. 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. Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet. 1996; 13: 114-116.
41. Nowak DA, Trost HA. Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm? Acta Neurol Scand. 2002; 105: 137-145.
42. Nowak DA, Trost HA, Porr A, Stolzle A, Lumenta CB. Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum). Clin Neurol Neurosurg. 2001; 103: 105-110.
43. O'Hare AM, Cooper PH, Parlette HL III. Trichilemmomal carcinoma in a patient with Cowden's disease (multiple hamartoma syndrome). J Am Acad Dermatol. 1997; 36: 1021-1023.
44. Ortiz O, Bloomfield S, Schochet S. Vascular contrast enhancement in Lhermitte-Duclos disease: case report. Neuroradiology. 1995; 37: 545-548.
45. Papierz W, Alwasiak J, Liberski PP. Immunohisto-chemical study in two cases of dysplastic gangliocytoma of cerebellum (Lhermitte-Duclos disease). Folia Neuropathol. 1994; 32: 233-235.
46. Peltier J, Lok C, Fichten A, Bruniau A, Lefranc M, Toussaint P,Desenclos C, Le Gars D. Lhermitte-Duclos disease and Cowden's syndrome. Report of two cases. Neurochirurgie. 2006; 52: 407-414.
47. Pirotte B, Goldman S, Baleriaux D, Brotchi J. Fluorodeoxyglucose and methionine uptake in Lhermitte-Duclos disease: case report. Neurosurgery. 2002; 50: 404-407.
48. Prestor B. Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). J Clin Neurosci. 2006; 13: 877-881.
49. Reeder RF, Saunders RL, Roberts DW, Fratkin JD, Cromwell LD. Magnetic resonance imaging in the diagnosis and treatment of Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum). Neurosurgery. 1988; 23: 240-245.
50. Reznik M, Schoenen J. Lhermitte-Duclos disease. Acta Neuropathol (Berl). 1983; 59: 88-94.
51. Robinson S, Cohen AR. Cowden's disease and Lhermitte-Duclos disease: an update. Case report and review of the literature. Neurosurg Focus. 2006; 20: E6.
52. Roessmann U, Wongmongkolrit T. Dysplastic gangliocytoma of cerebellum in a newborn. Case report. J Neurosurg. 1984; 60: 845-847.
53. Roski RA, Roessmann U, Spetzler RF, Kaufman B, Nulsen FE. Clinical and pathological study of dysplastic gangliocytoma. Case report. J Neurosurg. 1981; 55: 318-321.
54. Sabin HI, Lidov HG, Kendall BE, Symon L. Lhermitte-Duclos disease (dysplastic gangliocytoma): a case report with CT and MRI. Acta Neurochir (Wien). 1988; 93: 149-153.
55. Schrager CA, Schneider D, Gruener AC, Tsou HC, Peacocke M. Clinical and pathological features of breast disease in Cowden's syndrome: an underrecognized syndrome with an increased risk of breast cancer. Hum Pathol. 1998; 29: 47-53.
56. Shanley DJ, Vassallo CJ. Atypical presentation of Lhermitte-Duclos disease: preoperative diagnosis with MRI. Neuroradiology. 1992; 34: 103-104.
57. Shiurba RA, Gessaga EC, Eng LF, Sternberger LA, Sternberger NH, Urich H. Lhermitte-Duclos disease. An immunohistochemical study of the cerebellar cortex. Acta Neuropathol (Berl). 1988; 75: 474-480.
58. Siddiqi SN, Fehlings MG. Lhermitte-Duclos disease mimicking adult-onset aqueductal stenosis. Case report. J Neurosurg. 1994; 80: 1095-1098.
59. Smith RR, Grossman RI, Goldberg HI, Hackney DB, Bilaniuk LT, Zimmerman RA. MR imaging of Lhermitte-Duclos disease: a case report. AJNR Am J Neuroradiol. 1989; 10: 187-189.
60. Stapleton SR, Wilkins PR, Bell BA. Recurrent dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease) presenting with subarachnoid haemorrhage. Br J Neurosurg. 1992; 6: 153-156.
61. Starink TM, Meijer CJ, Brownstein MH. The cutaneous pathology of Cowden's disease: new findings. J Cutan Pathol. 1985; 12: 83-93.
62. Steck PA, Pershouse MA, Jasser SA, Yung WK, Lin H, Ligon AH, Langford LA, Baumgard ML, Hattier T, Davis T, Frye C, Hu R, Swedlund B, Teng DH, Tavtigian SV. Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that ismutated inmultiple advanced cancers. Nat Genet. 1997; 15: 356-362.
63. Swart JG, Lekkas C, Allard RH. Oral manifestations in Cowden's syndrome. Report of four cases. Oral Surg Oral Med Oral Pathol. 1985; 59: 264-268.
64. Thomas B, Krishnamoorthy T, Radhakrishnan VV, Kesavadas C. Advanced MR imaging in Lhermitte-Duclos disease: moving closer to pathology and pathophysiology. Neuroradiology. 2007; 49: 733-738.
65. Tsubosa Y, Fukutomi T, Tsuda H, Kanai Y, Akashi-Tanaka S, Nanasawa T, Linuma G, Ushio K. Breast cancer in Cowden's disease: a case report with review of the literature. Jpn J Clin Oncol. 1998; 28: 42-46.
66. 11C-methionine positron emission tomography data in 4 patients. Surg Neurol. 2006; 65: 293-296.
67. Velez-Torres R, Popham T, Redinger R, Callen JP. Facial papules and nodules, thyroid goiter, acral keratoses. Cowden's disease. Arch Dermatol. 1987; 123: 1552-1558.
68. Verdu A,Garde T, Madero S. Lhermitte-Duclos disease in a ten-year-old child: clinical follow-up and neuroimaging data from birth. Rev Neurol. 1998; 27: 597-600.
69. Vieco PT, Carpio-O'Donovan R, Melanson D, Montes J, O'Gorman AM, Meagher-Villemure K. Dysplastic gangliocytoma (Lhermitte-Duclos disease): CT and MR imaging. Pediatr Radiol. 1992; 22: 366-369.
70. Weinstock JV, Kawanishi H. Gastrointestinal polyposis with orocutaneous hamartomas (Cowden's disease). Gastroenterology. 1978; 74: 890-895.
71. Williams DW III, Elster AD, Ginsberg LE, Stanton C. Recurrent Lhermitte-Duclos disease: report of two cases and association with Cowden's disease. AJNR Am J Neuroradiol. 1992; 13: 287-290.
72. Wolansky LJ, Malantic GP, Heary R, Maniker AH, Lee HJ, Sharer LR, Patel UJ. Preoperative MRI diagnosis of Lhermitte-Duclos disease: case report with associated enlarged vessel and syrinx. Surg Neurol. 1996; 45: 470-475.
73. Yachnis AT, Trojanowski JQ, Memmo M, Schlaepfer WW. Expression of neurofilament proteins in the hypertrophic granule cells of Lhermitte-Duclos disease: an explanation for the mass effect and the myelination of parallel fibers in the disease state. J Neuropathol Exp Neurol. 1988; 47: 206-216.