Lhermitte-Duclos disease

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Lhermitte-Duclos disease
OMIM 158350

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Synonyms and keywords: Dysplastic cerebellar gangliocytoma

Overview

Lhermitte-Duclos disease (LDD) is also called as dysplastic gangliocytoma of the cerebellum. Lhermitte-Duclos disease (LDD) is a very rare disease. Lhermitte-Duclos disease (LDD) follows an autosomal dominant pattern of inheritance. Lhermitte-Duclos disease (LDD) is a rare entity that may occur in the association of Cowden's syndrome (CS). In The United States of America in order to categorise a condition as a rare disease it should affect fewer than 200,000 people. Rare diseases also called as orphan diseases. Orphan Drug Act was passed on 1983 by congress for the rare diseases. Today an average of 25-30 million americans have been reported with rare diseases. The number of people with individual rare disease may be less but overall the number of people with rare diseases are large in number.

Historical Perspective

  • Lhermitte-Duclos disease (LDD) was first discovered by Lhermitte and Duclos as "Sur un ganglioneurome diffus du cortex du cervelet", in 1920.[1][2]

Classification

Pathophysiology

Microscopic Pathology

Gross appearance of a portion of the surgical specimen showing the coarse widened folia. Case courtesy by Sydney S. Schochet Jr. MD [19]

Causes

Differentiating Xyz from other Diseases

Epidemiology and Demographics

Incidence

Age

  • Lhermitte–Duclos disease most commonly affects individuals between 30-50 years.[26]
  • Lhermitte–Duclos disease might also affects infants or adults over 60 years in some rare cases.

Race

Gender

Risk Factors

  • There are no established risk factors for Lhermitte–Duclos disease.

Screening

Natural History, Complications and Prognosis

Natural History

Complications

Prognosis


Diagnosis

History and Symptoms

Common symptoms of Lhermitte–Duclos disease include:[31]

Less common symptoms of Lhermitte–Duclos disease in severe cases include:[32]

MRI

Head MRI may be helpful in the diagnosis of Lhermitte–Duclos disease without the need for surgery. Findings on MRI diagnostic of Lhermitte–Duclos disease include:[33][34][35][36][37][38]

Cerebellar Mass in Lhermitte-Duclos Disease
MRI shows Tiger-striped appearance with abnormally oriented folia in the left cerebellar hemisphere, extending to the vermis. Case courtesy by Hideo Saito Et Al [39]

MR spectroscopy[40]

FDG-PET SCAN

FDG-PET scan may be helpful in the diagnosis of Lhermitte–Duclos disease about tumour pathology:[41]

  • Hypermetabolism of the LDD is seen
  • 18-FDG uptake is within the solid component of the LDD
  • Increased rCBV and increased 201-TI uptake
Lhermitte Duclos disease
MRI shows Coarse striations resulting from irregular, abnormally thickened cerebellar folia. Case courtesy by Sydney S. Schochet Jr. MD[42]


Treatment

Etiology

Clinical signs

References

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  2. Kumar R, Vaid VK, Kalra SK (July 2007). "Lhermitte-Duclos disease". Childs Nerv Syst. 23 (7): 729–32. doi:10.1007/s00381-006-0271-8. PMID 17221273.
  3. Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C (August 1999). "PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome". Hum. Mol. Genet. 8 (8): 1461–72. PMID 10400993.
  4. Lachlan KL, Lucassen AM, Bunyan D, Temple IK (September 2007). "Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers". J. Med. Genet. 44 (9): 579–85. doi:10.1136/jmg.2007.049981. PMC 2597943. PMID 17526800.
  5. Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C (March 1998). "Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation". Hum. Mol. Genet. 7 (3): 507–15. PMID 9467011.
  6. Murray C, Shipman P, Khangure M, Chakera T, Robbins P, McAuliffe W, Davis S (August 2001). "Lhermitte-Duclos disease associated with Cowden's syndrome: case report and literature review". Australas Radiol. 45 (3): 343–6. PMID 11531761.
  7. Robinson S, Cohen AR (February 2000). "Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis". Neurosurgery. 46 (2): 371–83. PMID 10690726.
  8. Pilarski, R.; Burt, R.; Kohlman, W.; Pho, L.; Shannon, K. M.; Swisher, E. (2013). "Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria". JNCI Journal of the National Cancer Institute. 105 (21): 1607–1616. doi:10.1093/jnci/djt277. ISSN 0027-8874.
  9. Krymskaya VP, Goncharova EA (February 2009). "PI3K/mTORC1 activation in hamartoma syndromes: therapeutic prospects". Cell Cycle. 8 (3): 403–13. doi:10.4161/cc.8.3.7555. PMID 19177005.
  10. 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 (May 1996). "Localization of the gene for Cowden disease to chromosome 10q22-23". Nat. Genet. 13 (1): 114–6. doi:10.1038/ng0596-114. PMID 8673088.
  11. Kwon CH, Zhu X, Zhang J, Baker SJ (October 2003). "mTor is required for hypertrophy of Pten-deficient neuronal soma in vivo". Proc. Natl. Acad. Sci. U.S.A. 100 (22): 12923–8. doi:10.1073/pnas.2132711100. PMC 240720. PMID 14534328.
  12. Arafa SR, LaSarge CL, Pun R, Khademi S, Danzer SC (January 2019). "Self-reinforcing effects of mTOR hyperactive neurons on dendritic growth". Exp. Neurol. 311: 125–134. doi:10.1016/j.expneurol.2018.09.019. PMID 30268766. Vancouver style error: initials (help)
  13. Santos VR, Pun R, Arafa SR, LaSarge CL, Rowley S, Khademi S, Bouley T, Holland KD, Garcia-Cairasco N, Danzer SC (December 2017). "PTEN deletion increases hippocampal granule cell excitability in male and female mice". Neurobiol. Dis. 108: 339–351. doi:10.1016/j.nbd.2017.08.014. PMC 5675774. PMID 28855130. Vancouver style error: initials (help)
  14. Stambolic V, Suzuki A, de la Pompa JL, Brothers GM, Mirtsos C, Sasaki T, Ruland J, Penninger JM, Siderovski DP, Mak TW (October 1998). "Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN". Cell. 95 (1): 29–39. PMID 9778245.
  15. 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 (May 1996). "Localization of the gene for Cowden disease to chromosome 10q22-23". Nat. Genet. 13 (1): 114–6. doi:10.1038/ng0596-114. PMID 8673088.
  16. Keniry M, Parsons R (September 2008). "The role of PTEN signaling perturbations in cancer and in targeted therapy". Oncogene. 27 (41): 5477–85. doi:10.1038/onc.2008.248. PMID 18794882.
  17. Giorgianni A, Pellegrino C, De Benedictis A, Mercuri A, Baruzzi F, Minotto R, Tabano A, Balbi S (December 2013). "Lhermitte-Duclos disease. A case report". Neuroradiol J. 26 (6): 655–60. doi:10.1177/197140091302600608. PMC 4202883. PMID 24355184.
  18. Abel, Ty W.; Baker, Suzanne J.; Fraser, Melissa M.; Tihan, Tarik; Nelson, James S.; Yachnis, Anthony T.; Bouffard, John-Paul; Mena, Hernando; Burger, Peter C.; Eberhart, Charles G. (2005). "Lhermitte-Duclos Disease: A Report of 31 Cases with Immunohistochemical Analysis of the PTEN/AKT/mTOR Pathway". Journal of Neuropathology & Experimental Neurology. 64 (4): 341–349. doi:10.1093/jnen/64.4.341. ISSN 0022-3069.
  19. "Gross appearance of a portion of the surgical specimen showing the coarse widened folia".
  20. Robinson S, Cohen AR (February 2000). "Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis". Neurosurgery. 46 (2): 371–83. PMID 10690726.
  21. Zhou XP, Marsh DJ, Morrison CD, Chaudhury AR, Maxwell M, Reifenberger G, Eng C (November 2003). "Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults". Am. J. Hum. Genet. 73 (5): 1191–8. doi:10.1086/379382. PMC 1180498. PMID 14566704.
  22. Abel TW, Baker SJ, Fraser MM, Tihan T, Nelson JS, Yachnis AT, Bouffard JP, Mena H, Burger PC, Eberhart CG (April 2005). "Lhermitte-Duclos disease: a report of 31 cases with immunohistochemical analysis of the PTEN/AKT/mTOR pathway". J. Neuropathol. Exp. Neurol. 64 (4): 341–9. PMID 15835270.
  23. Santos VR, Pun R, Arafa SR, LaSarge CL, Rowley S, Khademi S, Bouley T, Holland KD, Garcia-Cairasco N, Danzer SC (December 2017). "PTEN deletion increases hippocampal granule cell excitability in male and female mice". Neurobiol. Dis. 108: 339–351. doi:10.1016/j.nbd.2017.08.014. PMC 5675774. PMID 28855130. Vancouver style error: initials (help)
  24. Nowak DA, Trost HA (March 2002). "Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm?". Acta Neurol. Scand. 105 (3): 137–45. PMID 11886354.
  25. Robinson S, Cohen AR (February 2000). "Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis". Neurosurgery. 46 (2): 371–83. PMID 10690726.
  26. 26.0 26.1 Giorgianni A, Pellegrino C, De Benedictis A, Mercuri A, Baruzzi F, Minotto R, Tabano A, Balbi S (December 2013). "Lhermitte-Duclos disease. A case report". Neuroradiol J. 26 (6): 655–60. doi:10.1177/197140091302600608. PMC 4202883. PMID 24355184.
  27. Buhl R, Barth H, Hugo HH, Straube T, Mehdorn HM (June 2003). "Dysplastic gangliocytoma of the cerebellum: rare differential diagnosis in space occupying lesions of the posterior fossa". Acta Neurochir (Wien). 145 (6): 509–12, discussion 512. doi:10.1007/s00701-003-0040-3. PMID 12836078.
  28. Patel S, Barkovich AJ (August 2002). "Analysis and classification of cerebellar malformations". AJNR Am J Neuroradiol. 23 (7): 1074–87. PMID 12169461.
  29. Giorgianni A, Pellegrino C, De Benedictis A, Mercuri A, Baruzzi F, Minotto R, Tabano A, Balbi S (December 2013). "Lhermitte-Duclos disease. A case report". Neuroradiol J. 26 (6): 655–60. doi:10.1177/197140091302600608. PMC 4202883. PMID 24355184.
  30. Ozeren E, Gurses L, Sorar M, Er U, Önder E, Arıkök AT (2014). "L'hermitte-Duclos disease in an elderly patient: A case report and review of the literature". Asian J Neurosurg. 9 (4): 246. doi:10.4103/1793-5482.146666. PMID 25685239.
  31. Rimbau J, Isamat F (1994). "Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) and its relation to the multiple hamartoma syndrome (Cowden disease)". J. Neurooncol. 18 (3): 191–7. PMID 7964980.
  32. Shinagare, Atul B.; Patil, Nirupama K.; Sorte, S. Z. (2009). "Case 144: Dysplastic Cerebellar Gangliocytoma (Lhermitte-Duclos Disease)". Radiology. 251 (1): 298–303. doi:10.1148/radiol.2511071390. ISSN 0033-8419.
  33. Thomas B, Krishnamoorthy T, Radhakrishnan VV, Kesavadas C (September 2007). "Advanced MR imaging in Lhermitte-Duclos disease: moving closer to pathology and pathophysiology". Neuroradiology. 49 (9): 733–8. doi:10.1007/s00234-007-0241-1. PMID 17549467.
  34. Klisch J, Juengling F, Spreer J, Koch D, Thiel T, Büchert M, Arnold S, Feuerhake F, Schumacher M (May 2001). "Lhermitte-Duclos disease: assessment with MR imaging, positron emission tomography, single-photon emission CT, and MR spectroscopy". AJNR Am J Neuroradiol. 22 (5): 824–30. PMID 11337322.
  35. Moenninghoff C, Kraff O, Schlamann M, Ladd ME, Katsarava Z, Gizewski ER (2010). "Assessing a dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease) with 7T MR imaging". Korean J Radiol. 11 (2): 244–8. doi:10.3348/kjr.2010.11.2.244. PMC 2827790. PMID 20191074.
  36. Gessaga EC (1980). "Lhermitte-Duclos disease (diffuse hypertrophy of the cerebellum). Report of two cases". Neurosurg Rev. 3 (2): 151–8. PMID 7231686.
  37. Reznik M, Schoenen J (1983). "Lhermitte-Duclos disease". Acta Neuropathol. 59 (2): 88–94. PMID 6837278.
  38. Andres RH, Guzman R, Weis J, Brekenfeld C, Fandino J, Seiler RW (2009). "Lhermitte-Duclos disease with atypical vascularization--case report and review of the literature". Clin. Neuropathol. 28 (2): 83–90. PMID 19353838.
  39. "Biological Characteristics of a Cerebellar Mass Regrowing after Removal in a Patient with Lhermitte-Duclos Disease: Emission Tomography Studies".
  40. Moonis G, Ibrahim M, Melhem ER (May 2004). "Diffusion-weighted MRI in Lhermitte-Duclos disease: report of two cases". Neuroradiology. 46 (5): 351–4. doi:10.1007/s00234-004-1190-6. PMID 15088131.
  41. Klisch J, Juengling F, Spreer J, Koch D, Thiel T, Büchert M, Arnold S, Feuerhake F, Schumacher M (May 2001). "Lhermitte-Duclos disease: assessment with MR imaging, positron emission tomography, single-photon emission CT, and MR spectroscopy". AJNR Am J Neuroradiol. 22 (5): 824–30. PMID 11337322.
  42. "Axial T2 weighted MRI also showing the same coarse striations resulting from abnormally thick cerebellar folia".

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