Lhermitte-Duclos disease: Difference between revisions
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=== Diagnostic Study of Choice === | === 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> | * 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> | ||
=== History and Symptoms === | === History and Symptoms === | ||
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== MRI == | == 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 | [[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> | ||
* Hyperintense with parallel hypointense streaks which is an indication for thickening of the following: | * Hyperintense with parallel hypointense streaks which is an indication for thickening of the following: | ||
** [[Cerebellum|Cerebellar]] folia | ** [[Cerebellum|Cerebellar]] folia |
Revision as of 18:40, 1 May 2019
Lhermitte-Duclos disease | |
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OMIM | 158350 |
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
- Lhermitte-Duclos disease (LDD) is one of the syndrome which belong to PTEN hamartoma tumor syndromes (PHTS). These syndrome has been due to somatic mutation in phosphatase and tensin homolog (PTEN) gene. All PTEN hamartoma tumor syndromes (PHTS) follow autosomal dominant pattern of inheritance. PTEN hamartoma tumor syndromes (PHTS) include the following:[3][4][5][6][7]
- Cowden syndrome
- Bannayan-Riley-Ruvalcaba syndrome
- Adult Lhermitte-Duclos disease
- Proteus syndrome
Pathophysiology
- Lhermitte-Duclos disease (LDD) is transmitted in autosomal dominant pattern.
- Genes involved in the pathogenesis of Lhermitte-Duclos disease (LDD) include:[8][9]
- Mutations in the PTEN gene leads to oncogenesis, and somatic mutations
- Phosphatase and tensin homolog (PTEN) gene plays an important role in the following:[10][11][12][13]
- Phosphoinositide-3-kinase (PI3K)-AKT pathway and
- Rapamycin (mTOR) signaling pathways
- PTEN track backs to 10q23 which encodes and plays a significant role in the following:[14][15][16][17]
- Effects G1 cell cycle arrest and apoptosis
- Cellular proliferation and
- Migration
- Apoptosis
Microscopic Pathology
- On microscopic histopathological analysis, dysplastic hypertrophied ganglion cells in cerebellum, expansion of the granule layer, loss of Purkinje cells, and increased myelination are characteristic findings of Lhermitte–Duclos disease.[18][19]
![](/images/4/4f/Lhermitte_Duclos_Disease.jpg)
Causes
- The most common cause of Lhermitte–Duclos disease is mutation in PTEN gene on chromosome 10q22-23 which activates rapamycin (mTOR) which in turn effects PTEN/AKT pathway and a major regulator of cell growth.[21][22][23][24]
Differentiating Lhermitte–Duclos disease from other Diseases
Lhermitte–Duclos disease must be differentiated from medulloblastoma, Cowden disease and cerebellitis or subacute cerebellar infarction.[25]
Epidemiology and Demographics
Incidence
Age
- Lhermitte–Duclos disease most commonly affects individuals between 30-50 years.[28]
- 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
- The symptoms of Lhermitte–Duclos disease typically develop over many years which is a sign that may implicate the disease is slowly progressive in nature.
Complications
- Common complications of Lhermitte–Duclos diseaseinclude:[30][31]
Prognosis
Diagnosis
Diagnostic Study of Choice
- The diagnostic study of choice for Lhermitte–Duclos disease is Magnetic resonance imaging (MRI).[33][34][35]
History and Symptoms
- The majority of patients with Lhermitte–Duclos disease are asymptomatic.
Common symptoms of Lhermitte–Duclos disease include:[36]
- Ataxia
- Headache
- Cranial nerve palsy
- Paroxysm of vertigo
- Psychic deterioration
Less common symptoms of Lhermitte–Duclos disease in severe cases include:[37]
- 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[38][39][40][41][42]
- Ataxia of gait
- Turricephaly
- Occipital headache
- Facial asymmetry
- Polydactylia
- Skull abnormalities
- Reduced-hearing
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:[43][44][45][46][47][48]
- Hyperintense with parallel hypointense streaks which is an indication for thickening of the following:
- Cerebellar folia
- Cortical gyri
- Atrophy of the cerebellar white matter
- Thinning of medullary white matter
- Loss of Purkinje cells
- Thickened granule cell layer
![Cerebellar Mass in Lhermitte-Duclos Disease](/images/7/7c/Lhermitte%E2%80%93Duclos_disease.gif)
- 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:[52][53]
- Hypermetabolism of the Lhermitte–Duclos disease(LDD) is seen
- 18-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 CT scan may be helpful in the diagnosis of Lhermitte–Duclos disease but has limited value. Findings include[54][44]
- Non-specific hypoattenuating cerebellar mass
- Calcification rarely seen
![Lhermitte Duclos disease](/images/8/8f/Lhermitte-Duclos_disease_%28LDD%29.gif)
Treatment
References
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ Robinson S, Cohen AR (February 2000). "Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis". Neurosurgery. 46 (2): 371–83. PMID 10690726.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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)
- ↑ 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)
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ "Gross appearance of a portion of the surgical specimen showing the coarse widened folia".
- ↑ Robinson S, Cohen AR (February 2000). "Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis". Neurosurgery. 46 (2): 371–83. PMID 10690726.
- ↑ 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.
- ↑ 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.
- ↑ 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)
- ↑ 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.
- ↑ 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.
- ↑ Robinson S, Cohen AR (February 2000). "Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis". Neurosurgery. 46 (2): 371–83. PMID 10690726.
- ↑ 28.0 28.1 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.
- ↑ 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.
- ↑ Patel S, Barkovich AJ (August 2002). "Analysis and classification of cerebellar malformations". AJNR Am J Neuroradiol. 23 (7): 1074–87. PMID 12169461.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 44.0 44.1 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.
- ↑ 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.
- ↑ Gessaga EC (1980). "Lhermitte-Duclos disease (diffuse hypertrophy of the cerebellum). Report of two cases". Neurosurg Rev. 3 (2): 151–8. PMID 7231686.
- ↑ Reznik M, Schoenen J (1983). "Lhermitte-Duclos disease". Acta Neuropathol. 59 (2): 88–94. PMID 6837278.
- ↑ 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.
- ↑ "Biological Characteristics of a Cerebellar Mass Regrowing after Removal in a Patient with Lhermitte-Duclos Disease: Emission Tomography Studies".
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ "Axial T2 weighted MRI also showing the same coarse striations resulting from abnormally thick cerebellar folia".