Lhermitte-Duclos disease: Difference between revisions

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{{CMG}} ; {{AE}} {{VKG}}


{{SK}} Dysplastic cerebellar gangliocytoma
{{SK}} Dysplastic cerebellar gangliocytoma


== Overview ==
== Overview ==
'''Lhermitte-Duclos disease (LDD)''' is also called as [[Dysplasia|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 is a [[rare disease]] it should affect fewer than 200,000 people. [[Rare diseases]] also called as [[Orphan disease|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.
'''Lhermitte-Duclos disease (LDD)''' is also called as [[Dysplasia|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 disease|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 ==
== Historical Perspective ==
* '''Lhermitte-Duclos disease (LDD)''' was first discovered by Lhermitte and Duclos, in 1920.
* '''Lhermitte-Duclos disease (LDD)''' was first discovered by Lhermitte and Duclos as "Sur un ganglioneurome diffus du [[cortex]] du cervelet", in 1920.<ref name="pmid28050098">{{cite journal |vauthors=Bhatia JK, Bhatoe HS, Vadhanan S |title=Lhermitte-Duclos disease: A rare entity |journal=Med J Armed Forces India |volume=72 |issue=Suppl 1 |pages=S147–S149 |date=December 2016 |pmid=28050098 |pmc=5192211 |doi=10.1016/j.mjafi.2016.03.012 |url=}}</ref><ref name="pmid17221273">{{cite journal |vauthors=Kumar R, Vaid VK, Kalra SK |title=Lhermitte-Duclos disease |journal=Childs Nerv Syst |volume=23 |issue=7 |pages=729–32 |date=July 2007 |pmid=17221273 |doi=10.1007/s00381-006-0271-8 |url=}}</ref>
 
* In 1937, the first ever successful [[surgery]] was done on 34 year old Lhermitte-Duclos disease (LDD) [[patient]] who experienced [[Symptom|symptoms]] for almost 6 long years.<ref name="NairKumar20162">{{cite journal|last1=Nair|first1=Rajesh Parameshwaran|last2=Kumar|first2=Vinod|title=Lhermitte Duclos Disease in the Absence of Cowdens - A Varied Presentation|journal=Journal of Neurological Disorders|volume=04|issue=01|year=2016|issn=23296895|doi=10.4172/2329-6895.1000260}}</ref>
==Epidemiology==


== Classification ==
== Classification ==
* '''Lhermitte-Duclos disease (LDD)''' is one of the syndrome which belong to [[PTEN (gene)|PTEN]] [[hamartoma]] tumor syndromes (PHTS). These syndrome has been due to [[somatic]] [[mutation]] in [[phosphatase]] and tensin homolog (''[[PTEN (gene)|PTEN]]'') gene. All [[PTEN (gene)|PTEN]] hamartoma tumor syndromes (PHTS) follow [[autosomal dominant]] pattern of [[inheritance]]. [[PTEN (gene)|PTEN]] [[hamartoma]] [[tumor]] [[syndromes]] (PHTS) include the following:<ref name="pmid10400993">{{cite journal |vauthors=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 |title=PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome |journal=Hum. Mol. Genet. |volume=8 |issue=8 |pages=1461–72 |date=August 1999 |pmid=10400993 |doi= |url=}}</ref><ref name="pmid17526800">{{cite journal |vauthors=Lachlan KL, Lucassen AM, Bunyan D, Temple IK |title=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 |journal=J. Med. Genet. |volume=44 |issue=9 |pages=579–85 |date=September 2007 |pmid=17526800 |pmc=2597943 |doi=10.1136/jmg.2007.049981 |url=}}</ref><ref name="pmid9467011">{{cite journal |vauthors=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 |title=Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation |journal=Hum. Mol. Genet. |volume=7 |issue=3 |pages=507–15 |date=March 1998 |pmid=9467011 |doi= |url=}}</ref><ref name="pmid11531761">{{cite journal |vauthors=Murray C, Shipman P, Khangure M, Chakera T, Robbins P, McAuliffe W, Davis S |title=Lhermitte-Duclos disease associated with Cowden's syndrome: case report and literature review |journal=Australas Radiol |volume=45 |issue=3 |pages=343–6 |date=August 2001 |pmid=11531761 |doi= |url=}}</ref><ref name="pmid10690726">{{cite journal |vauthors=Robinson S, Cohen AR |title=Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis |journal=Neurosurgery |volume=46 |issue=2 |pages=371–83 |date=February 2000 |pmid=10690726 |doi= |url=}}</ref>
** [[Cowden syndrome]]
** [[Bannayan-Riley-Ruvalcaba syndrome]]
** Adult Lhermitte-Duclos disease
** [[Proteus syndrome]]


== Pathophysiology ==
== Pathophysiology ==
*'''Lhermitte-Duclos disease (LDD)''' is transmitted in [[autosomal dominant]] pattern.
*<nowiki/><nowiki/><nowiki/><nowiki/><nowiki/><nowiki/><nowiki/>[[Genes]] involved in the [[pathogenesis]] of '''Lhermitte-Duclo'''<nowiki/>'''s disease (LDD)''' include:<ref name="PilarskiBurt2013">{{cite journal|last1=Pilarski|first1=R.|last2=Burt|first2=R.|last3=Kohlman|first3=W.|last4=Pho|first4=L.|last5=Shannon|first5=K. M.|last6=Swisher|first6=E.|title=Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria|journal=JNCI Journal of the National Cancer Institute|volume=105|issue=21|year=2013|pages=1607–1616|issn=0027-8874|doi=10.1093/jnci/djt277}}</ref><ref name="pmid19177005">{{cite journal |vauthors=Krymskaya VP, Goncharova EA |title=PI3K/mTORC1 activation in hamartoma syndromes: therapeutic prospects |journal=Cell Cycle |volume=8 |issue=3 |pages=403–13 |date=February 2009 |pmid=19177005 |doi=10.4161/cc.8.3.7555 |url=}}</ref>
*<nowiki/><nowiki/><nowiki/>[[Mutations]] in the [[PTEN gene]] leads to [[oncogenesis]], and <nowiki/>[[Somatic mutation|somatic mutations]]
*[[Phosphatase]] and tensin homolog (''[[PTEN (gene)|PTEN]]'') [[gene]] plays an important role in the following:<ref name="pmid86730883">{{cite journal |vauthors=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 |title=Localization of the gene for Cowden disease to chromosome 10q22-23 |journal=Nat. Genet. |volume=13 |issue=1 |pages=114–6 |date=May 1996 |pmid=8673088 |doi=10.1038/ng0596-114 |url=}}</ref><ref name="pmid14534328">{{cite journal |vauthors=Kwon CH, Zhu X, Zhang J, Baker SJ |title=mTor is required for hypertrophy of Pten-deficient neuronal soma in vivo |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue=22 |pages=12923–8 |date=October 2003 |pmid=14534328 |pmc=240720 |doi=10.1073/pnas.2132711100 |url=}}</ref><ref name="pmid30268766">{{cite journal |vauthors=Arafa SR, LaSarge CL, Pun RYK, Khademi S, Danzer SC |title=Self-reinforcing effects of mTOR hyperactive neurons on dendritic growth |journal=Exp. Neurol. |volume=311 |issue= |pages=125–134 |date=January 2019 |pmid=30268766 |doi=10.1016/j.expneurol.2018.09.019 |url=}}</ref><ref name="pmid28855130">{{cite journal |vauthors=Santos VR, Pun RYK, Arafa SR, LaSarge CL, Rowley S, Khademi S, Bouley T, Holland KD, Garcia-Cairasco N, Danzer SC |title=PTEN deletion increases hippocampal granule cell excitability in male and female mice |journal=Neurobiol. Dis. |volume=108 |issue= |pages=339–351 |date=December 2017 |pmid=28855130 |pmc=5675774 |doi=10.1016/j.nbd.2017.08.014 |url=}}</ref><ref name="pmid266121492">{{cite journal |vauthors=Arun KA, Sreejith R, Hitha B, Geetha P, Sasidharan PK |title=Cowden syndrome with Lhermitte- Duclos disease presenting as ataxia |journal=Natl Med J India |volume=28 |issue=2 |pages=74–6 |date=2015 |pmid=26612149 |doi= |url=}}</ref>
**[[Phosphoinositide 3-kinase|Phosphoinositide]]-3-[[kinase]] ([[PI3K]])-[[AKT]] pathway and
**[[Rapamycin]] ([[mTOR]]) [[Signaling pathway|signaling pathways]]
*[[PTEN (gene)|PTEN]] track backs to 10q23 which encodes and plays a significant role in the following:<ref name="pmid9778245">{{cite journal |vauthors=Stambolic V, Suzuki A, de la Pompa JL, Brothers GM, Mirtsos C, Sasaki T, Ruland J, Penninger JM, Siderovski DP, Mak TW |title=Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN |journal=Cell |volume=95 |issue=1 |pages=29–39 |date=October 1998 |pmid=9778245 |doi= |url=}}</ref><ref name="pmid8673088">{{cite journal |vauthors=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 |title=Localization of the gene for Cowden disease to chromosome 10q22-23 |journal=Nat. Genet. |volume=13 |issue=1 |pages=114–6 |date=May 1996 |pmid=8673088 |doi=10.1038/ng0596-114 |url=}}</ref><ref name="pmid18794882">{{cite journal |vauthors=Keniry M, Parsons R |title=The role of PTEN signaling perturbations in cancer and in targeted therapy |journal=Oncogene |volume=27 |issue=41 |pages=5477–85 |date=September 2008 |pmid=18794882 |doi=10.1038/onc.2008.248 |url=}}</ref><ref name="pmid15120218">{{cite journal |vauthors=Derrey S, Proust F, Debono B, Langlois O, Layet A, Layet V, Longy M, Fréger P, Laquerrière A |title=Association between Cowden syndrome and Lhermitte-Duclos disease: report of two cases and review of the literature |journal=Surg Neurol |volume=61 |issue=5 |pages=447–54; discussion 454 |date=May 2004 |pmid=15120218 |doi=10.1016/S0090-3019(03)00576-7 |url=}}</ref>
**Effects [[G1]] [[cell cycle]] arrest and [[apoptosis]]
**[[Cellular]] [[proliferation]] and
**Migration
**[[Apoptosis]]
== Microscopic Pathology ==
* On microscopic [[histopathological]] analysis, [[Dysplasia|dysplastic]] hypertrophied [[ganglion]] [[cells]] in [[cerebellum]], expansion of the [[granule]] layer, loss of [[Purkinje cell|Purkinje cells,]] and increased [[myelination]] are characteristic findings of Lhermitte–Duclos [[disease]].<ref name="pmid243551842">{{cite journal |vauthors=Giorgianni A, Pellegrino C, De Benedictis A, Mercuri A, Baruzzi F, Minotto R, Tabano A, Balbi S |title=Lhermitte-Duclos disease. A case report |journal=Neuroradiol J |volume=26 |issue=6 |pages=655–60 |date=December 2013 |pmid=24355184 |pmc=4202883 |doi=10.1177/197140091302600608 |url=}}</ref><ref name="AbelBaker2005">{{cite journal|last1=Abel|first1=Ty W.|last2=Baker|first2=Suzanne J.|last3=Fraser|first3=Melissa M.|last4=Tihan|first4=Tarik|last5=Nelson|first5=James S.|last6=Yachnis|first6=Anthony T.|last7=Bouffard|first7=John-Paul|last8=Mena|first8=Hernando|last9=Burger|first9=Peter C.|last10=Eberhart|first10=Charles G.|title=Lhermitte-Duclos Disease: A Report of 31 Cases with Immunohistochemical Analysis of the PTEN/AKT/mTOR Pathway|journal=Journal of Neuropathology & Experimental Neurology|volume=64|issue=4|year=2005|pages=341–349|issn=0022-3069|doi=10.1093/jnen/64.4.341}}</ref><ref name="pmid72525592">{{cite journal |vauthors=Roski RA, Roessmann U, Spetzler RF, Kaufman B, Nulsen FE |title=Clinical and pathological study of dysplastic gangliocytoma. Case report |journal=J. Neurosurg. |volume=55 |issue=2 |pages=318–21 |date=August 1981 |pmid=7252559 |doi=10.3171/jns.1981.55.2.0318 |url=}}</ref><ref name="pmid6699715">{{cite journal |vauthors=Di Lorenzo N, Lunardi P, Fortuna A |title=Granulomolecular hypertrophy of the cerebellum (Lhermitte-Duclos disease). Case report |journal=J. Neurosurg. |volume=60 |issue=3 |pages=644–6 |date=March 1984 |pmid=6699715 |doi=10.3171/jns.1984.60.3.0644 |url=}}</ref>
* The characteristic [[Dysplasia|dysplastic]] hypertrophied [[ganglion]] [[cells]] are positive for [[synaptophysin]].<ref name="LouisOhgaki2007">{{cite journal|last1=Louis|first1=David N.|last2=Ohgaki|first2=Hiroko|last3=Wiestler|first3=Otmar D.|last4=Cavenee|first4=Webster K.|last5=Burger|first5=Peter C.|last6=Jouvet|first6=Anne|last7=Scheithauer|first7=Bernd W.|last8=Kleihues|first8=Paul|title=The 2007 WHO classification of tumours of the central nervous system|journal=Acta Neuropathologica|volume=114|issue=5|year=2007|pages=547–547|issn=0001-6322|doi=10.1007/s00401-007-0278-6}}</ref>
[[File:Lhermitte Duclos Disease.jpg|thumb|300x300px|Gross appearance of a portion of the surgical specimen showing the coarse widened folia. Case courtesy by Sydney S. Schochet Jr. MD <ref>{{Cite web|url=https://medpix.nlm.nih.gov/case?id=dc1b197c-561c-40ca-b443-9a15dae23927|title=Gross appearance of a portion of the surgical specimen showing the coarse widened folia.|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]


== Causes ==
== Causes ==
* The most common cause of Lhermitte–Duclos [[disease]] is [[mutation]] in [[PTEN (gene)|PTEN]] [[gene]] on [[chromosome]] 10q22-23 which activates [[rapamycin]] ([[mTOR]]) which in turn effects [[PTEN (gene)|PTEN]]/[[AKT]] pathway and a major regulator of [[cell growth]].<ref name="pmid106907262">{{cite journal |vauthors=Robinson S, Cohen AR |title=Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis |journal=Neurosurgery |volume=46 |issue=2 |pages=371–83 |date=February 2000 |pmid=10690726 |doi= |url=}}</ref><ref name="pmid14566704">{{cite journal |vauthors=Zhou XP, Marsh DJ, Morrison CD, Chaudhury AR, Maxwell M, Reifenberger G, Eng C |title=Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults |journal=Am. J. Hum. Genet. |volume=73 |issue=5 |pages=1191–8 |date=November 2003 |pmid=14566704 |pmc=1180498 |doi=10.1086/379382 |url=}}</ref><ref name="pmid15835270">{{cite journal |vauthors=Abel TW, Baker SJ, Fraser MM, Tihan T, Nelson JS, Yachnis AT, Bouffard JP, Mena H, Burger PC, Eberhart CG |title=Lhermitte-Duclos disease: a report of 31 cases with immunohistochemical analysis of the PTEN/AKT/mTOR pathway |journal=J. Neuropathol. Exp. Neurol. |volume=64 |issue=4 |pages=341–9 |date=April 2005 |pmid=15835270 |doi= |url=}}</ref><ref name="pmid288551302">{{cite journal |vauthors=Santos VR, Pun RYK, Arafa SR, LaSarge CL, Rowley S, Khademi S, Bouley T, Holland KD, Garcia-Cairasco N, Danzer SC |title=PTEN deletion increases hippocampal granule cell excitability in male and female mice |journal=Neurobiol. Dis. |volume=108 |issue= |pages=339–351 |date=December 2017 |pmid=28855130 |pmc=5675774 |doi=10.1016/j.nbd.2017.08.014 |url=}}</ref>


== Differentiating Xyz from other Diseases ==
== Differentiating Lhermitte–Duclos disease from other Diseases ==
Lhermitte–Duclos [[disease]] must be differentiated from [[medulloblastoma]], [[Cowden disease]] and cerebellitis or [[subacute]] [[cerebellar infarction]].<ref name="pmid128360782">{{cite journal |vauthors=Buhl R, Barth H, Hugo HH, Straube T, Mehdorn HM |title=Dysplastic gangliocytoma of the cerebellum: rare differential diagnosis in space occupying lesions of the posterior fossa |journal=Acta Neurochir (Wien) |volume=145 |issue=6 |pages=509–12; discussion 512 |date=June 2003 |pmid=12836078 |doi=10.1007/s00701-003-0040-3 |url=}}</ref>


== Epidemiology and Demographics ==
== Epidemiology and Demographics ==
=== Incidence ===
* The incidence of Lhermitte–Duclos [[disease]] is very extremely [[rare]] worldwide.<ref name="pmid11886354">{{cite journal |vauthors=Nowak DA, Trost HA |title=Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm? |journal=Acta Neurol. Scand. |volume=105 |issue=3 |pages=137–45 |date=March 2002 |pmid=11886354 |doi= |url=}}</ref><ref name="pmid106907263">{{cite journal |vauthors=Robinson S, Cohen AR |title=Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis |journal=Neurosurgery |volume=46 |issue=2 |pages=371–83 |date=February 2000 |pmid=10690726 |doi= |url=}}</ref>
* Till now hardly 200 patient cases were diagnosed with Lhermitte–Duclos [[disease]] worldwide.
=== Age ===
* Lhermitte–Duclos [[disease]] most commonly affects individuals between 30-50 years.<ref name="pmid24355184">{{cite journal |vauthors=Giorgianni A, Pellegrino C, De Benedictis A, Mercuri A, Baruzzi F, Minotto R, Tabano A, Balbi S |title=Lhermitte-Duclos disease. A case report |journal=Neuroradiol J |volume=26 |issue=6 |pages=655–60 |date=December 2013 |pmid=24355184 |pmc=4202883 |doi=10.1177/197140091302600608 |url=}}</ref>
* Lhermitte–Duclos [[disease]] might also affects [[Infant|infants]] or [[Adult|adults]] over 60 years in some [[rare]] cases.
*
=== Race ===
* There is no [[racial]] predilection to Lhermitte–Duclos [[disease]].<ref name="pmid12836078">{{cite journal |vauthors=Buhl R, Barth H, Hugo HH, Straube T, Mehdorn HM |title=Dysplastic gangliocytoma of the cerebellum: rare differential diagnosis in space occupying lesions of the posterior fossa |journal=Acta Neurochir (Wien) |volume=145 |issue=6 |pages=509–12; discussion 512 |date=June 2003 |pmid=12836078 |doi=10.1007/s00701-003-0040-3 |url=}}</ref>
=== Gender ===
* Lhermitte–Duclos [[disease]] affects [[men]] and [[women]] equally.<ref name="pmid24355184" />


== Risk Factors ==
== Risk Factors ==
* There are no established risk factors for Lhermitte–Duclos [[disease]].


== Screening ==
== Natural History, Complications and Prognosis ==


== Natural History, Complications and Prognosis ==
=== Natural History ===
* The [[symptoms]] of Lhermitte–Duclos [[disease]] typically [[Development|develop]] over many years which is a [[Medical sign|sign]] that may implicate the [[disease]] is slowly progressive in nature.
 
=== Complications ===
* Common [[complications]] of Lhermitte–Duclos [[disease]]<nowiki/>include:<ref name="pmid12169461">{{cite journal |vauthors=Patel S, Barkovich AJ |title=Analysis and classification of cerebellar malformations |journal=AJNR Am J Neuroradiol |volume=23 |issue=7 |pages=1074–87 |date=August 2002 |pmid=12169461 |doi= |url=}}</ref><ref name="pmid243551843">{{cite journal |vauthors=Giorgianni A, Pellegrino C, De Benedictis A, Mercuri A, Baruzzi F, Minotto R, Tabano A, Balbi S |title=Lhermitte-Duclos disease. A case report |journal=Neuroradiol J |volume=26 |issue=6 |pages=655–60 |date=December 2013 |pmid=24355184 |pmc=4202883 |doi=10.1177/197140091302600608 |url=}}</ref>
** [[Megacephaly]]
** [[Syringomyelia]]
** [[Breast]] [[malignancies]]
** [[Thyroid]] [[malignancies]]
** [[Genitourinary]] [[malignancies]]
** [[Gastrointestinal]] [[malignancies]]
 
=== Prognosis ===
* [[Prognosis]] is generally good to poor in patients with Lhermitte–Duclos [[disease]].<ref name="pmid25685239">{{cite journal |vauthors=Ozeren E, Gurses L, Sorar M, Er U, Önder E, Arıkök AT |title=L'hermitte-Duclos disease in an elderly patient: A case report and review of the literature |journal=Asian J Neurosurg |volume=9 |issue=4 |pages=246 |date=2014 |pmid=25685239 |doi=10.4103/1793-5482.146666 |url=}}</ref>
 
*


== Diagnosis ==
== Diagnosis ==
=== Diagnostic Study of Choice ===
* The [[diagnostic]] study of choice for Lhermitte–Duclos [[disease]] is [[Magnetic resonance imaging]] ([[MRI]]).<ref name="pmid118863543">{{cite journal |vauthors=Nowak DA, Trost HA |title=Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm? |journal=Acta Neurol. Scand. |volume=105 |issue=3 |pages=137–45 |date=March 2002 |pmid=11886354 |doi= |url=}}</ref><ref name="pmid128360783">{{cite journal |vauthors=Buhl R, Barth H, Hugo HH, Straube T, Mehdorn HM |title=Dysplastic gangliocytoma of the cerebellum: rare differential diagnosis in space occupying lesions of the posterior fossa |journal=Acta Neurochir (Wien) |volume=145 |issue=6 |pages=509–12; discussion 512 |date=June 2003 |pmid=12836078 |doi=10.1007/s00701-003-0040-3 |url=}}</ref><ref name="pmid28572832">{{cite journal |vauthors=Otheman Y, Aalouane R, Aarab C, Rammouz I |title=A case report of Lhermitte-Duclos disease revealed by psychiatric disturbances |journal=Ann Gen Psychiatry |volume=16 |issue= |pages=24 |date=2017 |pmid=28572832 |pmc=5450341 |doi=10.1186/s12991-017-0147-1 |url=}}</ref><ref name="pmid2909675">{{cite journal |vauthors=Carter JE, Merren MD, Swann KW |title=Preoperative diagnosis of Lhermitte-Duclos disease by magnetic resonance imaging. Case report |journal=J. Neurosurg. |volume=70 |issue=1 |pages=135–7 |date=January 1989 |pmid=2909675 |doi=10.3171/jns.1989.70.1.0135 |url=}}</ref><ref name="pmid3185886">{{cite journal |vauthors=Reeder RF, Saunders RL, Roberts DW, Fratkin JD, Cromwell LD |title=Magnetic resonance imaging in the diagnosis and treatment of Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) |journal=Neurosurgery |volume=23 |issue=2 |pages=240–5 |date=August 1988 |pmid=3185886 |doi= |url=}}</ref><ref name="pmid27057227">{{cite journal |vauthors=Golden N, Tjokorda MG, Sri M, Niryana W, Herman S |title=Management of unusual dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) in a developing country: Case report and review of the literature |journal=Asian J Neurosurg |volume=11 |issue=2 |pages=170 |date=2016 |pmid=27057227 |doi=10.4103/1793-5482.145091 |url=}}</ref>
=== History and Symptoms ===
* The majority of patients with Lhermitte–Duclos [[disease]] are [[asymptomatic]].
Common symptoms of Lhermitte–Duclos [[disease]] include:<ref name="pmid7964980">{{cite journal |vauthors=Rimbau J, Isamat F |title=Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) and its relation to the multiple hamartoma syndrome (Cowden disease) |journal=J. Neurooncol. |volume=18 |issue=3 |pages=191–7 |date=1994 |pmid=7964980 |doi= |url=}}</ref>
* [[Ataxia]]
* [[Headache]] 
* [[Cranial nerve palsy]]
* [[Paroxysm]] of [[vertigo]]
* Psychic deterioration
Less common [[Symptom|symptoms]] of Lhermitte–Duclos [[disease]] in severe cases include:<ref name="ShinagarePatil2009">{{cite journal|last1=Shinagare|first1=Atul B.|last2=Patil|first2=Nirupama K.|last3=Sorte|first3=S. Z.|title=Case 144: Dysplastic Cerebellar Gangliocytoma (Lhermitte-Duclos Disease)|journal=Radiology|volume=251|issue=1|year=2009|pages=298–303|issn=0033-8419|doi=10.1148/radiol.2511071390}}</ref>
* [[Hydrocephalus]]: Which might results in [[signs]] and [[symptoms]] of [[intracranial hypertension]].
** [[Headache]], [[blurred vision]], and [[vomiting]](Signs of [[intracranial hypertension]])
== Physical Examination ==
=== Neuromuscular ===
* Patient is usually oriented to persons, place, and time<ref name="pmid11516554">{{cite journal |vauthors=Nowak DA, Trost HA, Porr A, Stölzle A, Lumenta CB |title=Lhermitte-Duclos disease (Dysplastic gangliocytoma of the cerebellum) |journal=Clin Neurol Neurosurg |volume=103 |issue=2 |pages=105–10 |date=July 2001 |pmid=11516554 |doi= |url=}}</ref><ref name="pmid118863542">{{cite journal |vauthors=Nowak DA, Trost HA |title=Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm? |journal=Acta Neurol. Scand. |volume=105 |issue=3 |pages=137–45 |date=March 2002 |pmid=11886354 |doi= |url=}}</ref><ref name="pmid17185946">{{cite journal |vauthors=Peltier J, Lok C, Fichten A, Bruniau A, Lefranc M, Toussaint P, Desenclos C, Le Gars D |title=Lhermitte-Duclos disease and Cowden's syndrome. Report of two cases |journal=Neurochirurgie |volume=52 |issue=5 |pages=407–14 |date=November 2006 |pmid=17185946 |doi= |url=}}</ref><ref name="pmid7656495">{{cite journal |vauthors=Rainov NG, Holzhausen HJ, Burkert W |title=Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) |journal=Clin Neurol Neurosurg |volume=97 |issue=2 |pages=175–80 |date=May 1995 |pmid=7656495 |doi= |url=}}</ref><ref name="pmid15595264">{{cite journal |vauthors=Prabhu SS, Aldape KD, Bruner JM, Weinberg JS |title=Cowden disease with Lhermitte-Duclos disease: case report |journal=Can J Neurol Sci |volume=31 |issue=4 |pages=542–9 |date=November 2004 |pmid=15595264 |doi= |url=}}</ref>
* [[Ataxia]] of [[gait]]
* Turricephaly
* [[Occipital]] [[headache]]
* Facial asymmetry
* [[Polydactyly|Polydactylia]]
* [[Skull]] abnormalities
* Reduced-[[Hearing (sense)|hearing]]
== MRI ==
[[Head]] [[Magnetic resonance imaging|MRI]] may be helpful in the [[diagnosis]] of Lhermitte–Duclos [[disease]] without the need for [[surgery]]. Findings on [[Magnetic resonance imaging|MRI]] [[Diagnosis|diagnostic]] of Lhermitte–Duclos [[disease]] include:<ref name="pmid17549467">{{cite journal |vauthors=Thomas B, Krishnamoorthy T, Radhakrishnan VV, Kesavadas C |title=Advanced MR imaging in Lhermitte-Duclos disease: moving closer to pathology and pathophysiology |journal=Neuroradiology |volume=49 |issue=9 |pages=733–8 |date=September 2007 |pmid=17549467 |doi=10.1007/s00234-007-0241-1 |url=}}</ref><ref name="pmid11337322">{{cite journal |vauthors=Klisch J, Juengling F, Spreer J, Koch D, Thiel T, Büchert M, Arnold S, Feuerhake F, Schumacher M |title=Lhermitte-Duclos disease: assessment with MR imaging, positron emission tomography, single-photon emission CT, and MR spectroscopy |journal=AJNR Am J Neuroradiol |volume=22 |issue=5 |pages=824–30 |date=May 2001 |pmid=11337322 |doi= |url=}}</ref><ref name="pmid20191074">{{cite journal |vauthors=Moenninghoff C, Kraff O, Schlamann M, Ladd ME, Katsarava Z, Gizewski ER |title=Assessing a dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease) with 7T MR imaging |journal=Korean J Radiol |volume=11 |issue=2 |pages=244–8 |date=2010 |pmid=20191074 |pmc=2827790 |doi=10.3348/kjr.2010.11.2.244 |url=}}</ref><ref name="pmid7231686">{{cite journal |vauthors=Gessaga EC |title=Lhermitte-Duclos disease (diffuse hypertrophy of the cerebellum). Report of two cases |journal=Neurosurg Rev |volume=3 |issue=2 |pages=151–8 |date=1980 |pmid=7231686 |doi= |url=}}</ref><ref name="pmid6837278">{{cite journal |vauthors=Reznik M, Schoenen J |title=Lhermitte-Duclos disease |journal=Acta Neuropathol. |volume=59 |issue=2 |pages=88–94 |date=1983 |pmid=6837278 |doi= |url=}}</ref><ref name="pmid19353838">{{cite journal |vauthors=Andres RH, Guzman R, Weis J, Brekenfeld C, Fandino J, Seiler RW |title=Lhermitte-Duclos disease with atypical vascularization--case report and review of the literature |journal=Clin. Neuropathol. |volume=28 |issue=2 |pages=83–90 |date=2009 |pmid=19353838 |doi= |url=}}</ref><ref name="pmid29096752">{{cite journal |vauthors=Carter JE, Merren MD, Swann KW |title=Preoperative diagnosis of Lhermitte-Duclos disease by magnetic resonance imaging. Case report |journal=J. Neurosurg. |volume=70 |issue=1 |pages=135–7 |date=January 1989 |pmid=2909675 |doi=10.3171/jns.1989.70.1.0135 |url=}}</ref><ref name="pmid31858862">{{cite journal |vauthors=Reeder RF, Saunders RL, Roberts DW, Fratkin JD, Cromwell LD |title=Magnetic resonance imaging in the diagnosis and treatment of Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) |journal=Neurosurgery |volume=23 |issue=2 |pages=240–5 |date=August 1988 |pmid=3185886 |doi= |url=}}</ref><ref name="pmid26612149">{{cite journal |vauthors=Arun KA, Sreejith R, Hitha B, Geetha P, Sasidharan PK |title=Cowden syndrome with Lhermitte- Duclos disease presenting as ataxia |journal=Natl Med J India |volume=28 |issue=2 |pages=74–6 |date=2015 |pmid=26612149 |doi= |url=}}</ref><ref name="pmid270572272">{{cite journal |vauthors=Golden N, Tjokorda MG, Sri M, Niryana W, Herman S |title=Management of unusual dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) in a developing country: Case report and review of the literature |journal=Asian J Neurosurg |volume=11 |issue=2 |pages=170 |date=2016 |pmid=27057227 |doi=10.4103/1793-5482.145091 |url=}}</ref>
* Characteristic “tiger-striped” [[pattern]] on T1W and T2W images.
* Hyperintense with parallel hypointense streaks which is an indication for thickening of the following:
** [[Cerebellum|Cerebellar]] folia
** Cortical [[gyri]]
* [[Atrophy]] of the [[Cerebellum|cerebellar]] [[white matter]]
* Thinning of [[medullary]] [[white matter]]
* Loss of [[Purkinje cells]]
* Thickened [[Granule (cell biology)|granule]] cell layer
[[File:Lhermitte–Duclos disease.gif|alt= Cerebellar Mass in Lhermitte-Duclos Disease|thumb|[[Magnetic resonance imaging|MRI]] shows Tiger-striped appearance with abnormally oriented folia in the left [[Cerebellum|cerebellar]] hemisphere, extending to the [[Cerebellar vermis|vermis]]. Case courtesy by Hideo Saito Et Al <ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3995395/|title=Biological Characteristics of a Cerebellar Mass Regrowing after Removal in a Patient with Lhermitte-Duclos Disease: Emission Tomography Studies|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]
'''MR spectroscopy'''<ref name="pmid15088131">{{cite journal |vauthors=Moonis G, Ibrahim M, Melhem ER |title=Diffusion-weighted MRI in Lhermitte-Duclos disease: report of two cases |journal=Neuroradiology |volume=46 |issue=5 |pages=351–4 |date=May 2004 |pmid=15088131 |doi=10.1007/s00234-004-1190-6 |url=}}</ref><ref name="pmid12728507">{{cite journal |vauthors=Okunaga T, Takahata H, Nakamura M, Iwasaki K |title=[A case report of Lhermitte-Duclos disease with systematic AVMs] |language=Japanese |journal=No To Shinkei |volume=55 |issue=3 |pages=251–5 |date=March 2003 |pmid=12728507 |doi= |url=}}</ref>
* Increased [[lactate]]
* Decreased  NAA
* 30%-80% reduction in [[myo-inositol]]
* 20%-50% reduction in [[choline]]
* Decrease in Cho/Cr [[ratio]]
== FDG-PET SCAN ==
[[FDG-PET]] [[scan]] may be helpful in the [[diagnosis]] of Lhermitte–Duclos [[disease]] about tumour pathology:<ref name="pmid113373222">{{cite journal |vauthors=Klisch J, Juengling F, Spreer J, Koch D, Thiel T, Büchert M, Arnold S, Feuerhake F, Schumacher M |title=Lhermitte-Duclos disease: assessment with MR imaging, positron emission tomography, single-photon emission CT, and MR spectroscopy |journal=AJNR Am J Neuroradiol |volume=22 |issue=5 |pages=824–30 |date=May 2001 |pmid=11337322 |doi= |url=}}</ref><ref name="pmid22394619">{{cite journal |vauthors=Calabria F, Grillea G, Zinzi M, Barbarisi M, Siravo E, Bartolo M, Cantore G, Colonnese C, Grasso C, Schillaci O |title=Lhermitte-Duclos disease presenting with positron emission tomography-magnetic resonance fusion imaging: a case report |journal=J Med Case Rep |volume=6 |issue= |pages=76 |date=March 2012 |pmid=22394619 |pmc=3316141 |doi=10.1186/1752-1947-6-76 |url=}}</ref>
* [[Hypermetabolism]] of the Lhermitte–Duclos [[disease]](LDD) is seen
* 18-[[Fluorodeoxyglucose|FDG]] uptake is within the [[solid]] component of the LDD
* Increased rCBV and increased 201-TI uptake
* Increased [[glucose]] [[metabolism]] 
* Striations representing the folia of the [[cerebellum]]
* Increased [[metabolism]] and intensity signal similar to that of normal [[grey matter]].
== CT scan ==
[[Head]] [[Computed tomography|CT scan]] may be helpful in the [[diagnosis]] of Lhermitte–Duclos [[disease]] but has limited value. Findings include<ref name="ShinagarePatil20092">{{cite journal|last1=Shinagare|first1=Atul B.|last2=Patil|first2=Nirupama K.|last3=Sorte|first3=S. Z.|title=Case 144: Dysplastic Cerebellar Gangliocytoma (Lhermitte-Duclos Disease)|journal=Radiology|volume=251|issue=1|year=2009|pages=298–303|issn=0033-8419|doi=10.1148/radiol.2511071390}}</ref><ref name="pmid11337322" />
* Non-specific hypoattenuating [[cerebellar]] [[mass]]
* [[Calcification]] rarely seen<ref name="pmid7252559">{{cite journal |vauthors=Roski RA, Roessmann U, Spetzler RF, Kaufman B, Nulsen FE |title=Clinical and pathological study of dysplastic gangliocytoma. Case report |journal=J. Neurosurg. |volume=55 |issue=2 |pages=318–21 |date=August 1981 |pmid=7252559 |doi=10.3171/jns.1981.55.2.0318 |url=}}</ref>
[[File:Lhermitte-Duclos disease (LDD).gif|alt=Lhermitte Duclos disease|thumb|[[Magnetic resonance imaging|MRI]] shows Coarse [[Striation|striations]] resulting from irregular, abnormally thickened [[cerebellar]] folia. Case courtesy by  Sydney S. Schochet Jr. MD<ref>{{Cite web|url=https://medpix.nlm.nih.gov/case?id=4d6f6813-c703-4d49-a91c-5e3bbdf6f455|title=Axial T2 weighted MRI also showing the same coarse striations resulting from abnormally thick cerebellar folia.|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]


== Treatment ==
== Treatment ==


==Etiology==
=== Medical Therapy ===
==Clinical signs==
* Medical therapy is not indicated in patients who are [[asymptomatic]] in Lhermitte–Duclos [[disease]].
 
=== Surgery ===
[[Surgery]] is the mainstay of treatment for Lhermitte–Duclos [[disease]].<ref name="Prestor2006">{{cite journal|last1=Prestor|first1=Borut|title=Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease)|journal=Journal of Clinical Neuroscience|volume=13|issue=8|year=2006|pages=877–881|issn=09675868|doi=10.1016/j.jocn.2005.07.018}}</ref><ref name="pmid903815">{{cite journal |vauthors=Leech RW, Christoferson LA, Gilbertson RL |title=Dysplastic gangliocytoma (Lhermitte-Duclos disease) of the cerebellum. Case report |journal=J. Neurosurg. |volume=47 |issue=4 |pages=609–12 |date=October 1977 |pmid=903815 |doi=10.3171/jns.1977.47.4.0609 |url=}}</ref>
 
'''Debulking of the tumor'''
* Surgical [[debulking]] of the [[tumor]] is indicated in patients with Lhermitte–Duclos [[disease]]<ref name="pmid26442547">{{cite journal |vauthors=Matsumoto H, Minami H, Yoshida Y |title=Lhermitte-Duclos Disease Treated Surgically in an Elderly Patient: Case Report and Literature Review |journal=Turk Neurosurg |volume=25 |issue=5 |pages=783–7 |date=2015 |pmid=26442547 |doi=10.5137/1019-5149.JTN.9835-13.2 |url=}}</ref><ref name="NairKumar2016">{{cite journal|last1=Nair|first1=Rajesh Parameshwaran|last2=Kumar|first2=Vinod|title=Lhermitte Duclos Disease in the Absence of Cowdens - A Varied Presentation|journal=Journal of Neurological Disorders|volume=04|issue=01|year=2016|issn=23296895|doi=10.4172/2329-6895.1000260}}</ref>
* Using surgical [[microscope]] the precise margin of abnormal [[tissue]] of this [[tumor]] has accessed and removed during [[surgery]].<ref name="pmid16934474">{{cite journal |vauthors=Prestor B |title=Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) |journal=J Clin Neurosci |volume=13 |issue=8 |pages=877–81 |date=October 2006 |pmid=16934474 |doi=10.1016/j.jocn.2005.07.018 |url=}}</ref>
* The presence of well demarcated [[mass]] on exploration can be accounted as a successful surgical [[resection]].
* In older patients partial [[resection]] of the [[cerebral]] [[mass]] is recommended to avoid life threatening [[complications]].
*
 
==References==
==References==
<references />
{{reflist|2}}


[[pl:Choroba Lhermitte'a-Duclos]]
[[pl:Choroba Lhermitte'a-Duclos]]

Latest revision as of 16:13, 5 May 2019

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]
  • In 1937, the first ever successful surgery was done on 34 year old Lhermitte-Duclos disease (LDD) patient who experienced symptoms for almost 6 long years.[3]

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 [25]

Causes

Differentiating Lhermitte–Duclos disease from other Diseases

Lhermitte–Duclos disease must be differentiated from medulloblastoma, Cowden disease and cerebellitis or subacute cerebellar infarction.[30]

Epidemiology and Demographics

Incidence

  • The incidence of Lhermitte–Duclos disease is very extremely rare worldwide.[31][32]
  • Till now hardly 200 patient cases were diagnosed with Lhermitte–Duclos disease worldwide.

Age

  • Lhermitte–Duclos disease most commonly affects individuals between 30-50 years.[33]
  • 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.

Natural History, Complications and Prognosis

Natural History

Complications

Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Common symptoms of Lhermitte–Duclos disease include:[44]

Less common symptoms of Lhermitte–Duclos disease in severe cases include:[45]

Physical Examination

Neuromuscular

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:[51][52][53][54][55][56][57][58][59][60]

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 [61]

MR spectroscopy[62][63]

FDG-PET SCAN

FDG-PET scan may be helpful in the diagnosis of Lhermitte–Duclos disease about tumour pathology:[64][65]

CT scan

Head CT scan may be helpful in the diagnosis of Lhermitte–Duclos disease but has limited value. Findings include[66][52]

Lhermitte Duclos disease
MRI shows Coarse striations resulting from irregular, abnormally thickened cerebellar folia. Case courtesy by Sydney S. Schochet Jr. MD[68]

Treatment

Medical Therapy

  • Medical therapy is not indicated in patients who are asymptomatic in Lhermitte–Duclos disease.

Surgery

Surgery is the mainstay of treatment for Lhermitte–Duclos disease.[69][70]

Debulking of the tumor

References

  1. ↑ Bhatia JK, Bhatoe HS, Vadhanan S (December 2016). "Lhermitte-Duclos disease: A rare entity". Med J Armed Forces India. 72 (Suppl 1): S147–S149. doi:10.1016/j.mjafi.2016.03.012. PMC 5192211. PMID 28050098.
  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. ↑ Nair, Rajesh Parameshwaran; Kumar, Vinod (2016). "Lhermitte Duclos Disease in the Absence of Cowdens - A Varied Presentation". Journal of Neurological Disorders. 04 (01). doi:10.4172/2329-6895.1000260. ISSN 2329-6895.
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ Robinson S, Cohen AR (February 2000). "Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis". Neurosurgery. 46 (2): 371–83. PMID 10690726.
  9. ↑ 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.
  10. ↑ 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.
  11. ↑ 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.
  12. ↑ 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.
  13. ↑ 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)
  14. ↑ 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)
  15. ↑ Arun KA, Sreejith R, Hitha B, Geetha P, Sasidharan PK (2015). "Cowden syndrome with Lhermitte- Duclos disease presenting as ataxia". Natl Med J India. 28 (2): 74–6. PMID 26612149.
  16. ↑ 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.
  17. ↑ 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.
  18. ↑ 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.
  19. ↑ Derrey S, Proust F, Debono B, Langlois O, Layet A, Layet V, Longy M, Fréger P, Laquerrière A (May 2004). "Association between Cowden syndrome and Lhermitte-Duclos disease: report of two cases and review of the literature". Surg Neurol. 61 (5): 447–54, discussion 454. doi:10.1016/S0090-3019(03)00576-7. PMID 15120218.
  20. ↑ 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.
  21. ↑ 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.
  22. ↑ Roski RA, Roessmann U, Spetzler RF, Kaufman B, Nulsen FE (August 1981). "Clinical and pathological study of dysplastic gangliocytoma. Case report". J. Neurosurg. 55 (2): 318–21. doi:10.3171/jns.1981.55.2.0318. PMID 7252559.
  23. ↑ Di Lorenzo N, Lunardi P, Fortuna A (March 1984). "Granulomolecular hypertrophy of the cerebellum (Lhermitte-Duclos disease). Case report". J. Neurosurg. 60 (3): 644–6. doi:10.3171/jns.1984.60.3.0644. PMID 6699715.
  24. ↑ Louis, David N.; Ohgaki, Hiroko; Wiestler, Otmar D.; Cavenee, Webster K.; Burger, Peter C.; Jouvet, Anne; Scheithauer, Bernd W.; Kleihues, Paul (2007). "The 2007 WHO classification of tumours of the central nervous system". Acta Neuropathologica. 114 (5): 547–547. doi:10.1007/s00401-007-0278-6. ISSN 0001-6322.
  25. ↑ "Gross appearance of a portion of the surgical specimen showing the coarse widened folia".
  26. ↑ Robinson S, Cohen AR (February 2000). "Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis". Neurosurgery. 46 (2): 371–83. PMID 10690726.
  27. ↑ 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.
  28. ↑ 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.
  29. ↑ 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)
  30. ↑ 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.
  31. ↑ 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.
  32. ↑ Robinson S, Cohen AR (February 2000). "Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis". Neurosurgery. 46 (2): 371–83. PMID 10690726.
  33. ↑ 33.0 33.1 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.
  34. ↑ 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.
  35. ↑ Patel S, Barkovich AJ (August 2002). "Analysis and classification of cerebellar malformations". AJNR Am J Neuroradiol. 23 (7): 1074–87. PMID 12169461.
  36. ↑ 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.
  37. ↑ 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.
  38. ↑ 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.
  39. ↑ 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.
  40. ↑ Otheman Y, Aalouane R, Aarab C, Rammouz I (2017). "A case report of Lhermitte-Duclos disease revealed by psychiatric disturbances". Ann Gen Psychiatry. 16: 24. doi:10.1186/s12991-017-0147-1. PMC 5450341. PMID 28572832.
  41. ↑ Carter JE, Merren MD, Swann KW (January 1989). "Preoperative diagnosis of Lhermitte-Duclos disease by magnetic resonance imaging. Case report". J. Neurosurg. 70 (1): 135–7. doi:10.3171/jns.1989.70.1.0135. PMID 2909675.
  42. ↑ Reeder RF, Saunders RL, Roberts DW, Fratkin JD, Cromwell LD (August 1988). "Magnetic resonance imaging in the diagnosis and treatment of Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum)". Neurosurgery. 23 (2): 240–5. PMID 3185886.
  43. ↑ Golden N, Tjokorda MG, Sri M, Niryana W, Herman S (2016). "Management of unusual dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) in a developing country: Case report and review of the literature". Asian J Neurosurg. 11 (2): 170. doi:10.4103/1793-5482.145091. PMID 27057227.
  44. ↑ 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.
  45. ↑ 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.
  46. ↑ Nowak DA, Trost HA, Porr A, Stölzle A, Lumenta CB (July 2001). "Lhermitte-Duclos disease (Dysplastic gangliocytoma of the cerebellum)". Clin Neurol Neurosurg. 103 (2): 105–10. PMID 11516554.
  47. ↑ 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.
  48. ↑ Peltier J, Lok C, Fichten A, Bruniau A, Lefranc M, Toussaint P, Desenclos C, Le Gars D (November 2006). "Lhermitte-Duclos disease and Cowden's syndrome. Report of two cases". Neurochirurgie. 52 (5): 407–14. PMID 17185946.
  49. ↑ Rainov NG, Holzhausen HJ, Burkert W (May 1995). "Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease)". Clin Neurol Neurosurg. 97 (2): 175–80. PMID 7656495.
  50. ↑ Prabhu SS, Aldape KD, Bruner JM, Weinberg JS (November 2004). "Cowden disease with Lhermitte-Duclos disease: case report". Can J Neurol Sci. 31 (4): 542–9. PMID 15595264.
  51. ↑ 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.
  52. ↑ 52.0 52.1 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.
  53. ↑ 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.
  54. ↑ Gessaga EC (1980). "Lhermitte-Duclos disease (diffuse hypertrophy of the cerebellum). Report of two cases". Neurosurg Rev. 3 (2): 151–8. PMID 7231686.
  55. ↑ Reznik M, Schoenen J (1983). "Lhermitte-Duclos disease". Acta Neuropathol. 59 (2): 88–94. PMID 6837278.
  56. ↑ 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.
  57. ↑ Carter JE, Merren MD, Swann KW (January 1989). "Preoperative diagnosis of Lhermitte-Duclos disease by magnetic resonance imaging. Case report". J. Neurosurg. 70 (1): 135–7. doi:10.3171/jns.1989.70.1.0135. PMID 2909675.
  58. ↑ Reeder RF, Saunders RL, Roberts DW, Fratkin JD, Cromwell LD (August 1988). "Magnetic resonance imaging in the diagnosis and treatment of Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum)". Neurosurgery. 23 (2): 240–5. PMID 3185886.
  59. ↑ Arun KA, Sreejith R, Hitha B, Geetha P, Sasidharan PK (2015). "Cowden syndrome with Lhermitte- Duclos disease presenting as ataxia". Natl Med J India. 28 (2): 74–6. PMID 26612149.
  60. ↑ Golden N, Tjokorda MG, Sri M, Niryana W, Herman S (2016). "Management of unusual dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) in a developing country: Case report and review of the literature". Asian J Neurosurg. 11 (2): 170. doi:10.4103/1793-5482.145091. PMID 27057227.
  61. ↑ "Biological Characteristics of a Cerebellar Mass Regrowing after Removal in a Patient with Lhermitte-Duclos Disease: Emission Tomography Studies".
  62. ↑ 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.
  63. ↑ Okunaga T, Takahata H, Nakamura M, Iwasaki K (March 2003). "[A case report of Lhermitte-Duclos disease with systematic AVMs]". No To Shinkei (in Japanese). 55 (3): 251–5. PMID 12728507.
  64. ↑ 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.
  65. ↑ Calabria F, Grillea G, Zinzi M, Barbarisi M, Siravo E, Bartolo M, Cantore G, Colonnese C, Grasso C, Schillaci O (March 2012). "Lhermitte-Duclos disease presenting with positron emission tomography-magnetic resonance fusion imaging: a case report". J Med Case Rep. 6: 76. doi:10.1186/1752-1947-6-76. PMC 3316141. PMID 22394619.
  66. ↑ 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.
  67. ↑ Roski RA, Roessmann U, Spetzler RF, Kaufman B, Nulsen FE (August 1981). "Clinical and pathological study of dysplastic gangliocytoma. Case report". J. Neurosurg. 55 (2): 318–21. doi:10.3171/jns.1981.55.2.0318. PMID 7252559.
  68. ↑ "Axial T2 weighted MRI also showing the same coarse striations resulting from abnormally thick cerebellar folia".
  69. ↑ Prestor, Borut (2006). "Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease)". Journal of Clinical Neuroscience. 13 (8): 877–881. doi:10.1016/j.jocn.2005.07.018. ISSN 0967-5868.
  70. ↑ Leech RW, Christoferson LA, Gilbertson RL (October 1977). "Dysplastic gangliocytoma (Lhermitte-Duclos disease) of the cerebellum. Case report". J. Neurosurg. 47 (4): 609–12. doi:10.3171/jns.1977.47.4.0609. PMID 903815.
  71. ↑ Matsumoto H, Minami H, Yoshida Y (2015). "Lhermitte-Duclos Disease Treated Surgically in an Elderly Patient: Case Report and Literature Review". Turk Neurosurg. 25 (5): 783–7. doi:10.5137/1019-5149.JTN.9835-13.2. PMID 26442547.
  72. ↑ Nair, Rajesh Parameshwaran; Kumar, Vinod (2016). "Lhermitte Duclos Disease in the Absence of Cowdens - A Varied Presentation". Journal of Neurological Disorders. 04 (01). doi:10.4172/2329-6895.1000260. ISSN 2329-6895.
  73. ↑ Prestor B (October 2006). "Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease)". J Clin Neurosci. 13 (8): 877–81. doi:10.1016/j.jocn.2005.07.018. PMID 16934474.

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