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Lhermitte-Duclos disease(LDD)

MedGen UID:
140251
Concept ID:
C0391826
Neoplastic Process
Synonyms: Dysplastic gangliocytoma of the cerebellum; Lhermitte-Duclos syndrome
SNOMED CT: Lhermitte-Duclos disease (67944007); Dysplastic cerebellar gangliocytoma (67944007); Dysplastic gangliocytoma of cerebellum (Lhermitte-Duclos) (128791005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0500009
Monarch Initiative: MONDO:0019002
OMIM®: 158350; 601728
Orphanet: ORPHA65285

Definition

It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum. [from HPO]

Conditions with this feature

PTEN hamartoma tumor syndrome with granular cell tumor
MedGen UID:
400984
Concept ID:
C1866376
Neoplastic Process
Cowden syndrome 4
MedGen UID:
767431
Concept ID:
C3554517
Disease or Syndrome
The features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors.  Some people with Cowden syndrome have relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other affected individuals have the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome (named for the genetic cause of the conditions) instead of two distinct conditions.\n\n\n\nSome people do not meet the strict criteria for a clinical diagnosis of Cowden syndrome, but they have some of the characteristic features of the condition, particularly the cancers. These individuals are often described as having Cowden-like syndrome. Both Cowden syndrome and Cowden-like syndrome are caused by mutations in the same genes.\n\nCowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include kidney cancer, colorectal cancer, and an agressive form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. People with Cowden syndrome are also more likely to develop more than one cancer during their lifetimes compared to the general population. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development, intellectual disability, or autism spectrum disorder, which can affect communication and social interaction.\n\nAlmost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties.\n\nCowden syndrome is a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.

Professional guidelines

PubMed

Nieuwenhuis MH, Kets CM, Murphy-Ryan M, Yntema HG, Evans DG, Colas C, Møller P, Hes FJ, Hodgson SV, Olderode-Berends MJ, Aretz S, Heinimann K, Gómez García EB, Douglas F, Spigelman A, Timshel S, Lindor NM, Vasen HF
Fam Cancer 2014 Mar;13(1):57-63. doi: 10.1007/s10689-013-9674-3. PMID: 23934601
Nelen MR, Kremer H, Konings IB, Schoute F, van Essen AJ, Koch R, Woods CG, Fryns JP, Hamel B, Hoefsloot LH, Peeters EA, Padberg GW
Eur J Hum Genet 1999 Apr;7(3):267-73. doi: 10.1038/sj.ejhg.5200289. PMID: 10234502

Recent clinical studies

Etiology

Gambini D, Ferrero S, Bulfamante G, Pisani L, Corbo M, Kuhn E
Neuropathol Appl Neurobiol 2024 Apr;50(2):e12970. doi: 10.1111/nan.12970. PMID: 38504418
Han C, Zhang Y, Ran C, Luo Y, Li W
Clin Radiol 2023 Jan;78(1):33-39. Epub 2022 Sep 29 doi: 10.1016/j.crad.2022.08.134. PMID: 36182334
Dhamija R, Hoxworth JM
Clin Imaging 2020 Apr;60(2):180-185. Epub 2019 Dec 24 doi: 10.1016/j.clinimag.2019.12.006. PMID: 31927175
Wang Q, Zhang S, Cheng J, Liu W, Hui X
Clin Neurol Neurosurg 2017 Nov;162:53-58. Epub 2017 Sep 9 doi: 10.1016/j.clineuro.2017.09.007. PMID: 28938107
Vinchon M, Blond S, Lejeune JP, Krivosik I, Fossati P, Assaker R, Christiaens JL
J Neurol Neurosurg Psychiatry 1994 Jun;57(6):699-704. doi: 10.1136/jnnp.57.6.699. PMID: 8006650Free PMC Article

Diagnosis

Han C, Zhang Y, Ran C, Luo Y, Li W
Clin Radiol 2023 Jan;78(1):33-39. Epub 2022 Sep 29 doi: 10.1016/j.crad.2022.08.134. PMID: 36182334
Liu Z, He Y, Fu J, Wu J, Song T, Wang Y, Huang T
Zhong Nan Da Xue Xue Bao Yi Xue Ban 2021 Feb 28;46(2):195-199. doi: 10.11817/j.issn.1672-7347.2021.190574. PMID: 33678658Free PMC Article
Biswas SN, Chakraborty PP, Patra S
BMJ Case Rep 2016 Feb 15;2016 doi: 10.1136/bcr-2015-214235. PMID: 26880827Free PMC Article
Van Lieshout A, Gielens MP, Noordveld RB
JBR-BTR 2014 May-Jun;97(3):178-9. doi: 10.5334/jbr-btr.74. PMID: 25223136
Kumar R, Vaid VK, Kalra SK
Childs Nerv Syst 2007 Jul;23(7):729-32. Epub 2007 Jan 13 doi: 10.1007/s00381-006-0271-8. PMID: 17221273

Therapy

Wang Q, Zhang S, Cheng J, Liu W, Hui X
Clin Neurol Neurosurg 2017 Nov;162:53-58. Epub 2017 Sep 9 doi: 10.1016/j.clineuro.2017.09.007. PMID: 28938107
Zak M, Ledbetter M, Maertens P
J Child Neurol 2017 Mar;32(3):322-326. Epub 2016 Dec 8 doi: 10.1177/0883073816681340. PMID: 27932596
Walsh S, Carter M, Tubridy N, McDermott EW
BMJ Case Rep 2011 Oct 20;2011 doi: 10.1136/bcr.08.2011.4730. PMID: 22675060Free PMC Article
Sandsmark DK, Pelletier C, Weber JD, Gutmann DH
Histol Histopathol 2007 Aug;22(8):895-903. doi: 10.14670/HH-22.895. PMID: 17503347
Prestor B
J Clin Neurosci 2006 Oct;13(8):877-81. Epub 2006 Aug 24 doi: 10.1016/j.jocn.2005.07.018. PMID: 16934474

Prognosis

Zhang HW, Zhang YQ, Liu XL, Mo YQ, Lei Y, Lin F, Feng YN
Medicine (Baltimore) 2022 Jan 28;101(4):e28667. doi: 10.1097/MD.0000000000028667. PMID: 35089210Free PMC Article
Wang Q, Zhang S, Cheng J, Liu W, Hui X
Clin Neurol Neurosurg 2017 Nov;162:53-58. Epub 2017 Sep 9 doi: 10.1016/j.clineuro.2017.09.007. PMID: 28938107
Kumar R, Vaid VK, Kalra SK
Childs Nerv Syst 2007 Jul;23(7):729-32. Epub 2007 Jan 13 doi: 10.1007/s00381-006-0271-8. PMID: 17221273
Schiff D, Wen PY
Neurol Clin 1995 Nov;13(4):953-74. PMID: 8584006
Vinchon M, Blond S, Lejeune JP, Krivosik I, Fossati P, Assaker R, Christiaens JL
J Neurol Neurosurg Psychiatry 1994 Jun;57(6):699-704. doi: 10.1136/jnnp.57.6.699. PMID: 8006650Free PMC Article

Clinical prediction guides

Gambini D, Ferrero S, Bulfamante G, Pisani L, Corbo M, Kuhn E
Neuropathol Appl Neurobiol 2024 Apr;50(2):e12970. doi: 10.1111/nan.12970. PMID: 38504418
Önder E, Arikök AT, Türkoğlu E, Alper M
Turk Patoloji Derg 2018;34(1):92-99. doi: 10.5146/tjpath.2014.01283. PMID: 25371023
Wang Q, Zhang S, Cheng J, Liu W, Hui X
Clin Neurol Neurosurg 2017 Nov;162:53-58. Epub 2017 Sep 9 doi: 10.1016/j.clineuro.2017.09.007. PMID: 28938107
Abel TW, Baker SJ, Fraser MM, Tihan T, Nelson JS, Yachnis AT, Bouffard JP, Mena H, Burger PC, Eberhart CG
J Neuropathol Exp Neurol 2005 Apr;64(4):341-9. doi: 10.1093/jnen/64.4.341. PMID: 15835270
Vantomme N, Van Calenbergh F, Goffin J, Sciot R, Demaerel P, Plets C
Surg Neurol 2001 Sep;56(3):201-4; discussion 204-5. doi: 10.1016/s0090-3019(01)00552-3. PMID: 11597654

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