====== Cowden syndrome ======
Cowden [[syndrome]] (also known as Cowden's disease and multiple hamartoma syndrome) is an autosomal dominant inherited condition characterized by benign overgrowths called [[hamartoma]]s as well as an increased lifetime risk of breast, thyroid, uterine, and other cancers.
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The clinical symptoms of Cowden syndrome do not always correlate with the genetic results. However, recent improvements in genetic testing suggest the importance of diagnosing this disease using both clinical and genetic approaches, in collaboration with genetic experts, to ensure an accurate diagnosis and appropriate surveillance for malignant tumors
((Arai H, Akagi K, Nakagawa A, Onai Y, Utsu Y, Masuda S, Aotsuka N. Clinical and genetic diagnosis of Cowden syndrome: A case report of a rare PTEN germline variant and diverse clinical presentation. Medicine (Baltimore). 2023 Jan 6;102(1):e32572. doi: 10.1097/MD.0000000000032572. PMID: 36607858.))
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1: Serôdio M, Calvão-Pires P, Zhang D, Sá F. Epilepsy in Cowden syndrome: beyond
Lhermitte-Duclos disease. Acta Neurol Belg. 2022 Oct 2. doi:
10.1007/s13760-022-02106-9. Epub ahead of print. PMID: 36184653.
2: Prieto R, Hofecker V, Corbacho C. Coexisting lipomatous meningioma and
glioblastoma in Cowden syndrome: A unique tumor association. Neuropathology.
2022 Aug 24. doi: 10.1111/neup.12858. Epub ahead of print. PMID: 36003032.
3: McMahon ME, Murray D, MacNally S, O'Brien DF. Lhermitte-Duclos disease
(dysplastic cerebellar gangliocytoma) in the setting of cowden syndrome: a case
report and literature review on COLD syndrome. Br J Neurosurg. 2022 Aug 1:1-4.
doi: 10.1080/02688697.2022.2106354. Epub ahead of print. PMID: 35913038.
4: Fohlen M, Taussig D, Blustajn J, Rivera S, Pieper T, Ferrand-Sorbets S,
Dorfmuller G. Hypothalamic hamartoma associated with polymicrogyria and
periventricular nodular heterotopia in children: report of three cases and
discussion of the origin of the seizures. Childs Nerv Syst. 2022
Oct;38(10):1965-1975. doi: 10.1007/s00381-022-05573-w. Epub 2022 Jun 10. PMID:
35680686.
5: Mehkri Y, Surapaneni K, Tarhan B, Eisenbach T, Bilgili A, Tuna IS, Shuhaiber
HH, Anyane-Yeboa K. Presumptive Diagnosis of Pallister-Hall Syndrome Using
Magnetic Resonance Imaging. Cureus. 2022 Jan 30;14(1):e21735. doi:
10.7759/cureus.21735. PMID: 35251807; PMCID: PMC8887686.
6: Ganapathy A, Diaz EJ, Coleman JT, Mackey KA. Tumor Syndromes: Neurosurgical
Evaluation and Management. Neurosurg Clin N Am. 2022 Jan;33(1):91-104. doi:
10.1016/j.nec.2021.09.007. Epub 2021 Oct 26. PMID: 34801146.
7: Kondajji AM, Evans A, Lum M, Kulinich D, Unterberger A, Ding K, Duong C,
Patel K, Yang I. A systematic review of stereotactic radiofrequency ablation for
hypothalamic hamartomas. J Neurol Sci. 2021 May 15;424:117428. doi:
10.1016/j.jns.2021.117428. Epub 2021 Mar 27. PMID: 33813160.
8: Liu Z, He Y, Fu J, Wu J, Song T, Wang Y, Huang T. Lhermitte-Duclos disease: A
case report and literature review. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021 Feb
28;46(2):195-199. English, Chinese. doi: 10.11817/j.issn.1672-7347.2021.190574.
PMID: 33678658.
9: Aggarwal V, Mohmed A, Kumaria A. Multiple Meningiomata in Cowden Syndrome.
Cureus. 2020 Nov 13;12(11):e11469. doi: 10.7759/cureus.11469. PMID: 33209564;
PMCID: PMC7667626.
10: Ruggieri M, Polizzi A, Marceca GP, Catanzaro S, Praticò AD, Di Rocco C.
Introduction to phacomatoses (neurocutaneous disorders) in childhood. Childs
Nerv Syst. 2020 Oct;36(10):2229-2268. doi: 10.1007/s00381-020-04758-5. Epub 2020
Sep 17. PMID: 32940773.
11: Abell K, Tolusso L, Smith N, Hopkin R, Vawter-Lee M, Habli M, Riddle S,
Calvo-Garcia MA, Guan Q, Bierbrauer K, Hwa V, Saal HM. Prenatal diagnosis of
Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes. Birth Defects
Res. 2020 Nov;112(19):1733-1737. doi: 10.1002/bdr2.1801. Epub 2020 Sep 15. PMID:
32935482.
12: McLean A, Alalade AF, Golash A, Gurusinghe N. De Novo Cavernoma Formation in
a Patient With Cowden Syndrome and Lhermitte-Duclos Disease. World Neurosurg.
2020 Nov;143:308-314. doi: 10.1016/j.wneu.2020.07.221. Epub 2020 Aug 8. PMID:
32777405.
13: Puiseux C, Bretonnier M, Proisy M, Chappé C, Denizeau P, Riffaud L.
Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) presenting
as a prenatally heterotopic hamartoma. Childs Nerv Syst. 2021
Mar;37(3):1017-1020. doi: 10.1007/s00381-020-04785-2. Epub 2020 Jul 3. PMID:
32621005.
14: Jiang C, Lu WX, Yan GZ, Bai RB, Wang ZN, Chen Y, Hou B, Ren HJ. Bilateral
Dysplastic Gangliocytoma with Concurrent Polyostotic Fibrous Dysplasia: A Case
Report and Literature Review. World Neurosurg. 2020 Sep;141:421-424. doi:
10.1016/j.wneu.2020.06.071. Epub 2020 Jun 16. PMID: 32561490.
15: Hedjoudje A, Peng X, Gautam A, Pardo CA, Sciubba D, Gailloud P. Case of
Cowden Syndrome with 15 Spinal Arteriovenous Fistulas. World Neurosurg. 2020
Jul;139:567-576. doi: 10.1016/j.wneu.2020.04.086. Epub 2020 Apr 25. PMID:
32344142.
16: Fernandez C, Savard C, Farrell C, Shi W. Successful stereotactic
radiotherapy of meningiomas in a patient with Cowden syndrome: a case report.
Chin Clin Oncol. 2020 Jun;9(3):38. doi: 10.21037/cco.2020.03.04. Epub 2020 Apr
24. PMID: 32312055.
17: Yotsumoto Y, Harada A, Tsugawa J, Ikura Y, Utsunomiya H, Miyatake S,
Matsumoto N, Kanemura Y, Hashimoto-Tamaoki T. Infantile macrocephaly and
multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor
syndrome: A case report. Mol Clin Oncol. 2020 Apr;12(4):329-335. doi:
10.3892/mco.2020.1988. Epub 2020 Jan 27. PMID: 32190315; PMCID: PMC7058917.
18: Goldenberg A, Marguet F, Gilard V, Cardine AM, Hassani A, Doz F, Radi S,
Vasseur S, Bou J, Branchaud M, Houdayer C, Baert-Desurmont S, Laquerriere A,
Frebourg T. Mosaic PTEN alteration in the neural crest during embryogenesis
results in multiple nervous system hamartomas. Acta Neuropathol Commun. 2019 Dec
3;7(1):191. doi: 10.1186/s40478-019-0841-0. PMID: 31796102; PMCID: PMC6892231.
19: Borni M, Kammoun B, Kolsi F, Abdelmouleh S, Boudawara MZ. The Lhermitte-
Duclos disease: a rare bilateral cerebellar location of a rare pathology. Pan
Afr Med J. 2019 Jun 14;33:118. doi: 10.11604/pamj.2019.33.118.16809. PMID:
31489096; PMCID: PMC6711701.
20: Suzuki K, Toh K, Yamamoto J. In Reply to the Letter to Editor Regarding
"Giant Cerebral Aneurysm in a Patient with Cowden Syndrome Treated with Surgical
Clipping". World Neurosurg. 2019 Jul;127:682. doi: 10.1016/j.wneu.2019.04.196.
PMID: 31266127.
21: Sahu KK, Gandhi R, George SV. Letter to the Editor Regarding "Giant Cerebral
Aneurysm in a Patient with Cowden Syndrome Treated with Surgical Clipping".
World Neurosurg. 2019 Jul;127:680-681. doi: 10.1016/j.wneu.2019.04.098. PMID:
31266126.
22: Hady-Cohen R, Maharshak I, Michelson M, Yosovich K, Lev D, Constantini S,
Leiba H, Lerman-Sagie T, Blumkin L. Familial Intracranial Hypertension in 2
Brothers With PTEN Mutation: Expansion of the Phenotypic Spectrum. J
Child Neurol. 2019 Aug;34(9):506-510. doi: 10.1177/0883073819842970. Epub 2019
May 2. PMID: 31046523.
23: Cheng CS, Ou CH, Chen JS, Lui CC, Yeh LR. Lhermitte-Duclos disease: A case
report with radiologic-pathologic correlation. Radiol Case Rep. 2019 Apr
3;14(6):734-739. doi: 10.1016/j.radcr.2019.03.020. PMID: 30988866; PMCID:
PMC6447731.
24: Toh K, Suzuki K, Miyaoka R, Kitagawa T, Saito T, Nakano Y, Yamamoto J. Giant
Cerebral Aneurysm in a Patient with Cowden Syndrome Treated with Surgical
Clipping. World Neurosurg. 2019 Jun;126:336-340. doi:
10.1016/j.wneu.2019.02.245. Epub 2019 Mar 20. PMID: 30904793.
25: Almubarak AO, Haq AU, Alzahrani I, Shail EA. Lhermitte-Duclos Disease with
Cervical Arteriovenous Fistula. J Neurol Surg A Cent Eur Neurosurg. 2019
Mar;80(2):134-137. doi: 10.1055/s-0038-1670636. Epub 2018 Dec 5. PMID: 30517962.
26: Ma J, Jia G, Chen S, Jia W. Clinical Perspective on Dysplastic Gangliocytoma
of the Cerebellum (Lhermitte-Duclos Disease). World Neurosurg. 2019
Feb;122:16-23. doi: 10.1016/j.wneu.2018.10.085. Epub 2018 Oct 23. PMID:
30366139.
27: Takei J, Tochigi S, Arai M, Tanaka T, Kajiwara I, Hatano K, Ichinose D,
Sakamoto H, Hasegawa Y, Ishibashi T, Tani S, Murayama Y. Spinal Extradural
Arteriovenous Fistula with Cowden Syndrome: A Case Report and Literature Review
Regarding Pathogenesis and Therapeutic Strategy. NMC Case Rep J. 2018 Sep
13;5(4):83-85. doi: 10.2176/nmccrj.cr.2018-0018. PMID: 30327747; PMCID:
PMC6187262.
28: Ezgu MC, Ozer MI, Dogan A, Deveci G, Kural C, Izci Y. Lhermitte-Duclos
Disease in a Six-Year Old Child: A Rare Presentation. Pediatr Neurosurg.
2018;53(6):416-420. doi: 10.1159/000493014. Epub 2018 Oct 10. PMID: 30304734.
29: Kurtz W, Scholz S, Visoiu M. Ultrasound-guided serratus anterior plane block
for effective pain control after resection of large chest wall vascular
malformation in a child with Phosphatase and Tensin (PTEN) hamartoma tumor
syndrome. Paediatr Anaesth. 2018 Oct;28(10):931-933. doi: 10.1111/pan.13479.
PMID: 30302884.
30: Kerr K, Qualmann K, Esquenazi Y, Hagan J, Kim DH. Familial Syndromes
Involving Meningiomas Provide Mechanistic Insight Into Sporadic Disease.
Neurosurgery. 2018 Dec 1;83(6):1107-1118. doi: 10.1093/neuros/nyy121. PMID:
29660026; PMCID: PMC6235681.
31: Uchida D, Nakatogawa H, Inenaga C, Tanaka T. An Unusual Case of Lhermitte-
Duclos Disease Manifesting with Intratumoral Hemorrhage. World Neurosurg. 2018
Jun;114:326-329. doi: 10.1016/j.wneu.2018.03.184. Epub 2018 Apr 3. PMID:
29625313.
32: Talsania M, Sharma R, Sughrue ME, Scofield RH, Lim J. Familial Pallister-
Hall in adulthood. Neuro Endocrinol Lett. 2017 Oct;38(5):329-331. PMID:
29106787.
33: Wolfswinkel EM, Imahiyerobo TA, McComb JG, Sanchez-Lara PA, Urata MM.
Proteus Syndrome With a Cranial Intraosseous Lipoma. J Craniofac Surg. 2017
Nov;28(8):e771-e773. doi: 10.1097/SCS.0000000000003959. PMID: 28938315.
34: Wang Q, Zhang S, Cheng J, Liu W, Hui X. Lhermitte-Duclos disease: Clinical
study with long-term follow-up in a single institution. Clin Neurol Neurosurg.
2017 Nov;162:53-58. doi: 10.1016/j.clineuro.2017.09.007. Epub 2017 Sep 9. PMID:
28938107.
35: Kimura F, Ueda A, Sato E, Akimoto J, Kaise H, Yamada K, Hosonaga M, Kawai Y,
Teraoka S, Okazaki M, Ishikawa T. Hereditary breast cancer associated with
Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease. Surg Case
Rep. 2017 Dec;3(1):83. doi: 10.1186/s40792-017-0355-6. Epub 2017 Jul 24. PMID:
28741261; PMCID: PMC5524662.
36: Somagawa C, Ono T, Honda R, Baba H, Hiu T, Ushijima R, Toda K, Sato K, Ito
M, Tsutsumi K. Frequent vomiting attacks in a patient with Lhermitte-Duclos
disease: a rare pathophysiology of cerebellar lesions? J Neurosurg Pediatr. 2017
Sep;20(3):298-301. doi: 10.3171/2017.4.PEDS1735. Epub 2017 Jun 23. PMID:
28644064.
37: Jiang T, Wang J, Du J, Luo S, Liu R, Xie J, Wang Y, Li C. Lhermitte-Duclos
Disease (Dysplastic Gangliocytoma of the Cerebellum) and Cowden Syndrome:
Clinical Experience From a Single Institution with Long-Term Follow-Up. World
Neurosurg. 2017 Aug;104:398-406. doi: 10.1016/j.wneu.2017.04.147. Epub 2017 May
4. PMID: 28479525.
38: Nishi K, Murai S, Itami H, Otsuka S, Kusaka N, Nishiura T, Kimura N, Ogihara
K. [A Case of Arteriovenous Malformation of the Parotid Gland Associated with
Cowden Disease]. No Shinkei Geka. 2017 Apr;45(4):333-338. Japanese. doi:
10.11477/mf.1436203505. PMID: 28415058.
39: Saletti V, Esposito S, Maccaro A, Giglio S, Valentini LG, Chiapparini L.
Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association
or coincidence? Eur J Med Genet. 2017 May;60(5):261-264. doi:
10.1016/j.ejmg.2017.03.002. Epub 2017 Mar 7. PMID: 28286253.
40: Pain M, Darbinyan A, Fowkes M, Shrivastava R. Multiple Meningiomas in a
Patient with Cowden Syndrome. J Neurol Surg Rep. 2016 Jul;77(3):e128-33. doi:
10.1055/s-0036-1584265. PMID: 27563534; PMCID: PMC4996671.
41: Yakubov E, Ghoochani A, Buslei R, Buchfelder M, Eyüpoglu IY, Savaskan N.
Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency.
Oncoscience. 2016 Jun 30;3(5-6):149-55. doi: 10.18632/oncoscience.305. PMID:
27489861; PMCID: PMC4965257.
42: Kumar N, Kumar A, Uppin M. Lhermitte-Duclos disease as a cranial
manifestation of Cowden syndrome. Neurol India. 2016 Jan-Feb;64(1):162-4. doi:
10.4103/0028-3886.173658. PMID: 26755010.
43: Bosemani T, Steinlin M, Toelle SP, Beck J, Boltshauser E, Huisman TA,
Poretti A. Pseudotumoral hemicerebellitis as a mimicker of Lhermitte-Duclos
disease in children: does neuroimaging help to differentiate them? Childs Nerv
Syst. 2016 May;32(5):865-71. doi: 10.1007/s00381-015-2977-y. Epub 2015 Dec 9.
PMID: 26649682.
44: Matsumoto H, Minami H, Yoshida Y. Lhermitte-Duclos Disease Treated
Surgically in an Elderly Patient: Case Report and Literature Review. Turk
Neurosurg. 2015;25(5):783-7. doi: 10.5137/1019-5149.JTN.9835-13.2. PMID:
26442547.
45: Stępniak I, Trojanowski T, Drelich-Zbroja A, Willems P, Zaremba J. Cowden
syndrome and the associated Lhermitte-Duclos disease--Case presentation. Neurol
Neurochir Pol. 2015;49(5):339-43. doi: 10.1016/j.pjnns.2015.07.005. Epub 2015
Jul 30. PMID: 26377987.
46: Huang S, Zhang G, Zhang J. Similar MR imaging characteristics but different
pathological changes: a misdiagnosis for Lhermitte-Duclos disease and review of
the literature. Int J Clin Exp Pathol. 2015 Jun 1;8(6):7583-7. PMID: 26261673;
PMCID: PMC4526007.
47: Sethi D. Proteus syndrome: what the anesthetist should know. J Clin Anesth.
2015 Aug;27(5):419-22. doi: 10.1016/j.jclinane.2015.03.038. Epub 2015 Apr 25.
PMID: 25921368.
48: Hoogkamer W, Van Calenbergh F, Swinnen SP, Duysens J. Cutaneous reflex
modulation and self-induced reflex attenuation in cerebellar patients. J
Neurophysiol. 2015 Feb 1;113(3):915-24. doi: 10.1152/jn.00381.2014. Epub 2014
Nov 12. PMID: 25392164; PMCID: PMC4312859.
49: Abi Lahoud G, Chalouhi N, Zanaty M, Rizk T, Jabbour P. Association of
Lhermitte-Duclos disease and split cord malformation in a child. J Clin
Neurosci. 2014 Nov;21(11):1999-2002. doi: 10.1016/j.jocn.2014.05.005. Epub 2014
Jun 15. PMID: 24938384.
50: Kemp J, Guzman MA, Fitzpatrick CM, Elbabaa SK. Holocord syringomyelia
secondary to tethered spinal cord associated with anterior sacral meningocele
and tailgut cyst: case report and review of literature. Childs Nerv Syst. 2014
Jun;30(6):1141-6. doi: 10.1007/s00381-014-2379-6. Epub 2014 Feb 22. PMID:
24562417.
51: Sibille CA, Triffaux M, Claes K, Sznajer Y, Gille M. Lhermitte-Duclos
disease with obstructive hydrocephalus: An illustrative case treated with
endoscopic ventriculo-cisternostomy. Rev Neurol (Paris). 2013 Nov;169(11):917-9.
doi: 10.1016/j.neurol.2012.12.007. Epub 2013 Oct 12. PMID: 24128882.
52: Sugita S, Chikuda H, Ohya J, Taniguchi Y, Takeshita K, Haga N, Ushiku T,
Tanaka S. Cervical canal stenosis caused by progressive fusion and enlargement
of cervical vertebrae with features of Proteus syndrome and Klippel-Feil
syndrome. Skeletal Radiol. 2013 Dec;42(12):1743-6. doi:
10.1007/s00256-013-1663-y. Epub 2013 Jun 13. PMID: 23760594.
53: Sadahiro H, Ishihara H, Goto H, Oka F, Shirao S, Yoneda H, Suzuki M.
Postoperative dural arteriovenous fistula in a patient with Cowden disease: a
case report. J Stroke Cerebrovasc Dis. 2014 Mar;23(3):572-5. doi:
10.1016/j.jstrokecerebrovasdis.2013.04.021. Epub 2013 May 13. PMID: 23680687.
54: El Hassani Y, Jenny B, Pittet-Cuenod B, Bottani A, Scolozzi P, Ozsahin Ayse
H, Rilliet B. Proteus syndrome revealing itself after the treatment of a
bilateral subdural haematoma. Childs Nerv Syst. 2013 Oct;29(10):1927-31. doi:
10.1007/s00381-013-2090-z. Epub 2013 Apr 5. PMID: 23559393.
55: Thomas A. Teaching case: Cowden syndrome and headache. Headache. 2012 Jul-
Aug;52(7):1200-2. PMID: 22946128.
56: VanStraten AF, Ng YT. Update on the management of Lennox-Gastaut syndrome.
Pediatr Neurol. 2012 Sep;47(3):153-61. doi: 10.1016/j.pediatrneurol.2012.05.001.
PMID: 22883278.
57: Nayil K, Wani M, Ramzan A, Shaheen F, Lone I, Wani A. Lhermitte - Duclos
disease with syrinx: case report and literature review. Turk Neurosurg.
2011;21(4):651-4. PMID: 22194132.
58: Yang MS, Kim CH, Cheong JH, Kim JM. Lhermitte-Duclos disease presenting with
hydrocephalus. Acta Neurochir Suppl. 2012;113:161-5. doi:
10.1007/978-3-7091-0923-6_32. PMID: 22116444.
59: Zou YH, Cao YQ, Yue ZJ, Liu JM. Unusual posterior fossa mass caused by
Lhermitte-Duclos disease with no symptoms in adults. Br J Neurosurg. 2012
Feb;26(1):99-101. doi: 10.3109/02688697.2011.591851. Epub 2011 Jul 18. PMID:
21767124.
60: Nair P, Pal L, Jaiswal AK, Behari S. Lhermitte-Duclos disease associated
with dysembryoplastic neuroepithelial tumor differentiation with characteristic
magnetic resonance appearance of "tiger striping". World Neurosurg. 2011 May-
Jun;75(5-6):699-703. doi: 10.1016/j.wneu.2010.10.046. PMID: 21704939.
61: Galarza M, Martínez-Lage JF, Ham S, Sood S. Cerebral anomalies and Chiari
type 1 malformation. Pediatr Neurosurg. 2010;46(6):442-9. doi:
10.1159/000327220. Epub 2011 May 3. PMID: 21540621.
62: Afshar-Oromieh A, Linhart H, Podlesek D, Schrempf W, Schackert G, Krex D.
Postoperative cerebellar mutism in adult patients with Lhermitte-Duclos disease.
Neurosurg Rev. 2010 Oct;33(4):401-8. doi: 10.1007/s10143-010-0278-1. Epub 2010
Jul 29. PMID: 20668902.
63: Cardenas R, Chittiboina P, Willis BK, Gonzalez-Toldeo E, Nanda A. Cerebellar
lesion. J La State Med Soc. 2010 May-Jun;162(3):162-4. PMID: 20666170.
64: Bozbuga M, Gulec I, Suslu HT, Bayindir C. Bilateral Lhermitte-Duclos
disease. Neurol India. 2010 Mar-Apr;58(2):309-11. doi: 10.4103/0028-3886.63799.
PMID: 20508358.
65: Sakamoto Y, Nakajima H, Kishi K, Shimizu R, Nakajima T. Management of
craniofacial hyperostosis in Proteus syndrome. J Craniofac Surg. 2010
Mar;21(2):414-8. doi: 10.1097/SCS.0b013e3181cfa7f0. PMID: 20216456.
66: Yağci-Küpeli B, Oguz KK, Bilen MA, Yalçin B, Akalan N, Büyükpamukçu M. An
unusual cause of posterior fossa mass: Lhermitte-Duclos disease. J Neurol Sci.
2010 Mar 15;290(1-2):138-41. doi: 10.1016/j.jns.2009.12.010. Epub 2010 Jan 8.
PMID: 20060133.
67: Goto Y, Hashimoto N, Okita Y, Goto T, Rabo C, Hirayama H, Horikawa Y,
Kinoshita M, Kagawa N, Yoshimine T. A surgically treated case of Lhermitte-
Duclos disease with a precise natural history and high uptake of FDG on PET. J
Neurooncol. 2010 May;97(3):445-50. doi: 10.1007/s11060-009-0042-y. Epub 2009 Nov
12. PMID: 19904496.
68: Johnston JM, Limbrick DD, Ray WZ, Brown S, Shimony J, Park TS. Isolated
cerebellar Rosai-Dorfman granuloma mimicking Lhermitte-Duclos disease. Case
report. J Neurosurg Pediatr. 2009 Aug;4(2):118-20. doi: 10.3171/2009.3.PEDS0917.
PMID: 19645543.
69: Hargrave D. Paediatric high and low-grade glioma : the impact of tumour
biology on current and future therapy. Br J Neurosurg. 2009 Aug;23(4):351-63.
doi: 10.1080/02688690903158809. PMID: 19637006.
70: Andres RH, Guzman R, Weis J, Brekenfeld C, Fandino J, Seiler RW. Lhermitte-
Duclos disease with atypical vascularization--case report and review of the
literature. Clin Neuropathol. 2009 Mar-Apr;28(2):83-90. doi: 10.5414/npp28083.
PMID: 19353838.
71: Zhou L, Luo L, Hui X, You C, Yang Y, Xu J. Three adolescents with Lhermitte-
Duclos disease. J Clin Neurosci. 2009 Jan;16(1):124-7. doi:
10.1016/j.jocn.2008.02.023. Epub 2008 Nov 14. PMID: 19013808.
72: Addas B, Sherman EM, Hader WJ. Surgical management of hypothalamic
hamartomas in patients with gelastic epilepsy. Neurosurg Focus. 2008
Sep;25(3):E8. doi: 10.3171/FOC/2008/25/9/E8. PMID: 18759632.
73: Inoue T, Nishimura S, Hayashi N, Numagami Y, Kaimori M, Nishijima M. Ectopic
recurrence of dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos
disease): a case report. Brain Tumor Pathol. 2007;24(1):25-9. doi:
10.1007/s10014-006-0211-z. Epub 2007 May 25. PMID: 18095141.
74: Tei R, Morimoto T, Miyamoto K, Aketa S, Shimokawara T, Shin Y, Hironaka Y.
Intradural extramedullary ganglioneuroma associated with multiple hamartoma
syndrome. Neurol Med Chir (Tokyo). 2007 Nov;47(11):513-5. doi:
10.2176/nmc.47.513. PMID: 18037807.
75: Farrell CJ, Plotkin SR. Genetic causes of brain tumors: neurofibromatosis,
tuberous sclerosis, von Hippel-Lindau, and other syndromes. Neurol Clin. 2007
Nov;25(4):925-46, viii. doi: 10.1016/j.ncl.2007.07.008. PMID: 17964021.
76: Jenny B, Radovanovic I, Haenggeli CA, Delavelle J, Rüfenacht D, Kaelin A,
Blouin JL, Bottani A, Rilliet B. Association of multiple vertebral hemangiomas
and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case
report. J Neurosurg. 2007 Oct;107(4 Suppl):307-13. doi: 10.3171/PED-07/10/307.
PMID: 17941496.
77: Dandine JB, James S, Van Garsse A, Born JD. Syndrome Proteus et hypertension
intracrânienne [Intracranial hypertension in Proteus syndrome]. Neurochirurgie.
2007 Nov;53(5):339-42. French. doi: 10.1016/j.neuchi.2007.06.001. Epub 2007 Aug
16. PMID: 17706728.
78: Farhadi MR, Rittierodt M, Stan A, Capelle HH, Tham-Mücke B, Krauss JK.
Intramedullary ependymoma associated with Lhermitte-Duclos disease and Cowden
syndrome. Clin Neurol Neurosurg. 2007 Oct;109(8):692-7. doi:
10.1016/j.clineuro.2007.04.010. Epub 2007 Jun 4. PMID: 17544575.
79: Tan TC, Ho LC. Lhermitte-Duclos disease associated with Cowden syndrome. J
Clin Neurosci. 2007 Aug;14(8):801-5. doi: 10.1016/j.jocn.2006.06.007. Epub 2007
May 7. PMID: 17485210.
80: Kumar R, Vaid VK, Kalra SK. Lhermitte-Duclos disease. Childs Nerv Syst. 2007
Jul;23(7):729-32. doi: 10.1007/s00381-006-0271-8. Epub 2007 Jan 13. PMID:
17221273.
81: Peltier J, Lok C, Fichten A, Bruniau A, Lefranc M, Toussaint P, Desenclos C,
Le Gars D. Lhermitte-Duclos disease and Cowden's syndrome. Report of two cases.
Neurochirurgie. 2006 Nov;52(5):407-14. doi: 10.1016/s0028-3770(06)71239-5. PMID:
17185946.
82: Van Calenbergh F, Vantomme N, Flamen P, Demaerel P, Sciot R, Legius E,
Mortelmans L, Plets C. Lhermitte-Duclos disease: 11C-methionine positron
emission tomography data in 4 patients. Surg Neurol. 2006 Mar;65(3):293-6;
discussion 296-7. doi: 10.1016/j.surneu.2005.06.031. PMID: 16488255.
83: Robinson S, Cohen AR. Cowden disease and Lhermitte-Duclos disease: an
update. Case report and review of the literature. Neurosurg Focus. 2006 Jan
15;20(1):E6. doi: 10.3171/foc.2006.20.1.7. PMID: 16459996.
84: McCall T, Chin SS, Salzman KL, Fults DW. Tuberous sclerosis: a syndrome of
incomplete tumor suppression. Neurosurg Focus. 2006 Jan 15;20(1):E3. doi:
10.3171/foc.2006.20.1.4. PMID: 16459993.
85: Isobe N, Oki S, Murakami T, Ooyama S, Kureshima M, Kurokawa Y. [A case of
atypical meningioma with Lhermitte-Duclos disease]. No Shinkei Geka. 2005
Dec;33(12):1229-35. Japanese. PMID: 16359035.
86: Kerrigan JF, Ng YT, Chung S, Rekate HL. The hypothalamic hamartoma: a model
of subcortical epileptogenesis and encephalopathy. Semin Pediatr Neurol. 2005
Jun;12(2):119-31. doi: 10.1016/j.spen.2005.04.002. PMID: 16114178.
87: Lok C, Viseux V, Avril MF, Richard MA, Gondry-Jouet C, Deramond H,
Desfossez-Tribout C, Courtade S, Delaunay M, Piette F, Legars D, Dreno B, Saïag
P, Longy M, Lorette G, Laroche L, Caux F; Cancerology Group of the French
Society of Dermatology. Brain magnetic resonance imaging in patients with Cowden
syndrome. Medicine (Baltimore). 2005 Mar;84(2):129-136. doi:
10.1097/01.md.0000158792.24888.d2. PMID: 15758842.
88: Prabhu SS, Aldape KD, Bruner JM, Weinberg JS. Cowden disease with Lhermitte-
Duclos disease: case report. Can J Neurol Sci. 2004 Nov;31(4):542-9. doi:
10.1017/s0317167100003784. PMID: 15595264.
89: Pérez-Núñez A, Lagares A, Benítez J, Urioste M, Lobato RD, Ricoy JR, Ramos
A, González P. Lhermitte-Duclos disease and Cowden disease: clinical and genetic
study in five patients with Lhermitte-Duclos disease and literature review. Acta
Neurochir (Wien). 2004 Jul;146(7):679-90. doi: 10.1007/s00701-004-0264-x. Epub
2004 May 21. PMID: 15197611.
90: Derrey S, Proust F, Debono B, Langlois O, Layet A, Layet V, Longy M, Fréger
P, Laquerrière A. Association between Cowden syndrome and Lhermitte-Duclos
disease: report of two cases and review of the literature. Surg Neurol. 2004
May;61(5):447-54; discussion 454. doi: 10.1016/S0090-3019(03)00576-7. PMID:
15120218.
91: Polkey CE. Resective surgery for hypothalamic hamartoma. Epileptic Disord.
2003 Dec;5(4):281-6. PMID: 14975798.
92: Okunaga T, Takahata H, Nakamura M, Iwasaki K. [A case report of Lhermitte-
Duclos disease with systematic AVMs]. No To Shinkei. 2003 Mar;55(3):251-5.
Japanese. PMID: 12728507.
93: Vantomme N, Van Calenbergh F, Goffin J, Sciot R, Demaerel P, Plets C.
Lhermitte-Duclos disease is a clinical manifestation of Cowden's syndrome. Surg
Neurol. 2001 Sep;56(3):201-4; discussion 204-5. doi:
10.1016/s0090-3019(01)00552-3. PMID: 11597654.
94: Nowak DA, Trost HA, Porr A, Stölzle A, Lumenta CB. Lhermitte-Duclos disease
(Dysplastic gangliocytoma of the cerebellum). Clin Neurol Neurosurg. 2001
Jul;103(2):105-10. doi: 10.1016/s0303-8467(01)00124-x. PMID: 11516554.
95: Cummings TJ, Ebert RH 2nd, Provenzale J, McLendon RE. March 2000: A 16 year
old female with a cerebellar mass. Brain Pathol. 2001 Jul;11(3):391-3. PMID:
11414481.
96: Barone F, Noubari BA, Torrisi A, Lanzafame S, Tropea R, Mancuso P. Lhermitte
duclos disease and Cowden disease: clinical, pathological and neuroimaging study
of a case. J Neurosurg Sci. 2000 Dec;44(4):234-7. PMID: 11327294.
97: Zhang CL, Tada M, Kobayashi H, Nozaki M, Moriuchi T, Abe H. Detection of
PTEN nonsense mutation and psiPTEN expression in central nervous system high-
grade astrocytic tumors by a yeast-based stop codon assay. Oncogene. 2000 Sep
7;19(38):4346-53. doi: 10.1038/sj.onc.1203795. PMID: 10980610.
98: Wakabayashi Y, Isono M, Shimomura T, Tajima A, Terashi H, Asada Y, Izumi T,
Hori S. Neurocutaneous vascular hamartomas mimicking Cobb syndrome. Case report.
J Neurosurg. 2000 Jul;93(1 Suppl):133-6. doi: 10.3171/spi.2000.93.1.0133. PMID:
10879770.
99: Ortega R, Escamilla F, Pastor J, Romero F, Mínguez A. Enfermedad de
Lhermitte-Duclos asociada a esclerosis tuberosa. Presentación de un caso y
revisión de la literatura [Lhermitte-Duclos disease associated with tuberous
sclerosis. A case report and review of literature]. Rev Neurol. 2000 May
1-15;30(9):833-6. Spanish. PMID: 10870196.
100: Robinson S, Cohen AR. Cowden disease and Lhermitte-Duclos disease:
characterization of a new phakomatosis. Neurosurgery. 2000 Feb;46(2):371-83.
doi: 10.1097/00006123-200002000-00021. PMID: 10690726.
101: Murata J, Tada M, Sawamura Y, Mitsumori K, Abe H, Nagashima K. Dysplastic
gangliocytoma (Lhermitte-Duclos disease) associated with Cowden disease: report
of a case and review of the literature for the genetic relationship between the
two diseases. J Neurooncol. 1999 Jan;41(2):129-36. doi: 10.1023/a:1006167421100.
PMID: 10222433.
102: Koch R, Scholz M, Nelen MR, Schwechheimer K, Epplen JT, Harders AG.
Lhermitte-Duclos disease as a component of Cowden's syndrome. Case report and
review of the literature. J Neurosurg. 1999 Apr;90(4):776-9. doi:
10.3171/jns.1999.90.4.0776. PMID: 10193626.
103: Tsugu H, Fukushima T, Nagashima T, Utsunomiya H, Tomonaga M, Mitsudome A.
Hypothalamic hamartoma associated with multiple congenital abnormalities. Two
patients and a review of reported cases. Pediatr Neurosurg. 1998
Dec;29(6):290-6. doi: 10.1159/000028739. PMID: 9973674.
104: Yuasa H, Motokishita T, Tokito S, Tokunaga M, Goto M. Lhermitte-Duclos
disease associated with Cowden's disease--case report. Neurol Med Chir (Tokyo).
1997 Sep;37(9):697-700. doi: 10.2176/nmc.37.697. PMID: 9330536.
105: Ring D, Snyder B. Spinal canal compromise in Proteus syndrome: case report
and review of the literature. Am J Orthop (Belle Mead NJ). 1997 Apr;26(4):275-8.
PMID: 9113294.
106: Amagasa M, Yuda F, Tsunoda T, Sato S. Lhermitte-Duclos disease associated
with Cowden disease. Brain Tumor Pathol. 1997;14(1):63-9. doi:
10.1007/BF02478871. PMID: 9384805.
107: Rainov NG, Holzhausen HJ, Burkert W. Dysplastic gangliocytoma of the
cerebellum (Lhermitte-Duclos disease). Clin Neurol Neurosurg. 1995
May;97(2):175-80. doi: 10.1016/0303-8467(95)00017-e. PMID: 7656495.
108: Sato K, Kubota T, Kitai R. Linear sebaceous nevus syndrome (sebaceous nevus
of Jadassohn) associated with abnormal neuronal migration and optic glioma: case
report. Neurosurgery. 1994 Aug;35(2):318-20; discussion 320. doi:
10.1227/00006123-199408000-00022. PMID: 7969843.
109: Rimbau J, Isamat F. Dysplastic gangliocytoma of the cerebellum (Lhermitte-
Duclos disease) and its relation to the multiple hamartoma syndrome (Cowden
disease). J Neurooncol. 1994;18(3):191-7. doi: 10.1007/BF01328953. PMID:
7964980.
110: Cowden EA, Ratcliffe WA, Beastall GH, Ratcliffe JG. Laboratory assessment
of prolactin status. Ann Clin Biochem. 1979 May;16(3):113-21. doi:
10.1177/000456327901600126. PMID: 117734.
111: Cooper JR. Brain tumors in hereditary multiple system hamartomatosis
(tuberous sclerosis). J Neurosurg. 1971 Feb;34(2 Pt 1):194-202. doi:
10.3171/jns.1971.34.2part1.0194. PMID: 14768687.