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October 9, 2017 E-Pearl of the Week: Lhermitte-Duclos disease

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October 9, 2017

Lhermitte-Duclos disease

Lhermitte-Duclos disease (LDD) or dysplastic cerebellar gangliocytoma is a rare, hamartomatous tumor of the cerebellum, that usually presents in young adults. Signs and symptoms include headache, nausea, ataxia, tremor, and visual disturbances. (1) LDD is often associated with Cowden syndrome (a multiple hamartoma-neoplasia complex); germline PTEN and EGFR mutations may be causative. (2, 3) Cerebellar histology shows derangement of normal laminar cellular organization. MRI reveals widened cerebellar folia with a 'tigroid' appearance. (4) Surgical resection is often curative, with only a few cases of recurrence.

  1. Biswas SN, Chakraborty PP, Patra S. Lhermitte-Duclos disease. BMJ Case Rep. 2016 Feb 15;2016. (Extract). Accessed February 17, 2017.
  2. Zhou XP, Marsh DJ, Morrison CD, et al. Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults. Am J Hum Genet. 2003;73:1191-1198.
  3. Colby S, Yehia L, Niazi F, et al. Exome sequencing reveals germline gain-of-function EGFR mutation in an adult with Lhermitte-Duclos disease. Cold Spring Harb Mol Case Stud. 2016;2:a001230. Accessed February 17, 2017.
  4. Kulkantrakorn K, Awwad EE, Levy B, et al. MRI in Lhermitte-Duclos disease. Neurology. 1997;48:725-731. 

Submitted by Davide Bagatti, Neurosurgery III unit, IRCCS Foundation “Carlo Besta” / University of Milan, Milan, Italy. 

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