Lhermitte-Duclos disease
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Lhermitte-Duclos disease, abbreviated LDD, is a rare neuropathology.
It is also known as dysplastic cerebellar gangliocytoma[1] and dysplastic gangliocytoma of the cerebellum.
General
- Cerebellar lesion.
- May be associated with Cowden syndrome.[2]
- Rarely bilateral.[3]
- ICD-O code: 9493/0
Microscopic
Features:[4]
- The outer (molecular) layer has increased cellularity.
- Purkinje cells absent.[1]
- Large (polygonal) cells with round nuclei and prominent nucleoli in the inner (granular) layer - key feature.
- +/-Microcalcifications.
IHC
- Synapto+ve.
- Calbindin+ve.
- PTEN-ve.
- MIB-1 almost absent.
Images
LDD in cerebellar cross section (AFIP)
LDD. (WC/Jensflorian)
LDD, Luxol fast blue stain. (WC/Sbrandner)
LDD, Calbindin. (WC/Sbrandner)
www:
Molecular
DDx:
(Usually on imaging):
- Arachnoid vascular malformation [7]
- Cerebellar Pleomorphic xanthoastrocytoma[8]
- Medulloblastoma[9]
See also
References
- ↑ 1.0 1.1 Yağci-Küpeli, B.; Oguz, KK.; Bilen, MA.; Yalçin, B.; Akalan, N.; Büyükpamukçu, M. (Mar 2010). "An unusual cause of posterior fossa mass: Lhermitte-Duclos disease.". J Neurol Sci 290 (1-2): 138-41. doi:10.1016/j.jns.2009.12.010. PMID 20060133.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 158350
- ↑ Bozbuga, M.; Gulec, I.; Suslu, HT.; Bayindir, C.. "Bilateral Lhermitte-Duclos disease.". Neurol India 58 (2): 309-11. doi:10.4103/0028-3886.63799. PMID 20508358.
- ↑ URL: http://path.upmc.edu/cases/case472.html. Accessed on: 21 January 2012.
- ↑ Chen, XY.; Lu, F.; Wang, YM.; Yang, Y.; Wei, GQ.; Wu, D.; Wang, LF.; Wu, YM. (Oct 2014). "PTEN inactivation by germline/somatic c.950_953delTACT mutation in patients with Lhermitte-Duclos disease manifesting progressive phenotypes.". Clin Genet 86 (4): 349-54. doi:10.1111/cge.12282. PMID 24102544.
- ↑ Pritchard, CC.; Smith, C.; Marushchak, T.; Koehler, K.; Holmes, H.; Raskind, W.; Walsh, T.; Bennett, RL. (Dec 2013). "A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing.". Genet Med 15 (12): 1004-7. doi:10.1038/gim.2013.51. PMID 23619277.
- ↑ Huang, S.; Zhang, G.; Zhang, J. (2015). "Similar MR imaging characteristics but different pathological changes: a misdiagnosis for Lhermitte-Duclos disease and review of the literature.". Int J Clin Exp Pathol 8 (6): 7583-7. PMID 26261673.
- ↑ Takei, H.; Rouah, E.; Bhattacharjee, MB. (2015). "Cerebellar pleomorphic xanthoastrocytoma in a patient with neurofibromatosis type 1: a case report and literature review.". Int J Clin Exp Pathol 8 (6): 7570-4. PMID 26261671.
- ↑ Douglas-Akinwande, AC.; Payner, TD.; Hattab, EM. (Jul 2009). "Medulloblastoma mimicking Lhermitte-Duclos disease on MRI and CT.". Clin Neurol Neurosurg 111 (6): 536-9. doi:10.1016/j.clineuro.2009.01.008. PMID 19233547.