English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
 
 
DownloadE-Mail
  Lhermitte-Duclos disease in 3 children: A clinical long-term observation

Mori, A. C., Hoeltzenbein, M., Poetsch, M., Schneider, J. F., Brandner, S., & Boltshauser, E. (2003). Lhermitte-Duclos disease in 3 children: A clinical long-term observation. Neuropediatrics, 34(1), 30-35. doi:10.1055/s-2003-38623.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8AB2-D Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8AB3-B
Genre: Journal Article
Alternative Title : Neuropediatrics

Files

show Files

Locators

show

Creators

show
hide
 Creators:
Mori, A. C., Author
Hoeltzenbein, M.1, Author
Poetsch, M., Author
Schneider, J. F., Author
Brandner, S., Author
Boltshauser, E., Author
Affiliations:
1Max Planck Society, ou_persistent13              

Content

show
hide
Free keywords: Lhermitte-Duclos disease; gangliocytoma; Cowden disease; PTEN mutation; cerebellum; child
 Abstract: We report three boys in whom a diagnosis of Lhermitte-Duclos disease (LDD) was assumed from characteristic neuroimaging findings. LDD was confirmed by an open biopsy in patient 1, while a biopsy in patient 2 was inconclusive. Histologic confirmation in patient 3 was deliberately not attempted. However, a follow-up observation of stable clinical and neuroimaging findings over 2, 5 and 11 years, respectively, support the diagnosis of LDD. Despite extensive expansion of the lesion with brainstem involvement, clinical signs in two boys were minimal, while one patient has cognitive impairment and a complex oculomotor disturbance. So far we found no evidence for an association with Cowden disease (CD). No germline PTEN mutations were detected in these children, but the amount of available biopsy tissue in patients 1 and 2 was insufficient for a complete genetic analysis of tumor tissue. In conclusion, LDD can usually be diagnosed by MRI. In view of the favourable natural history, a conservative “wait and see” strategy is justified, particularly if radical tumor resection is not possible. LDD is often not associated with CD and germline PTEN mutations seem not to be present in isolated LDD.

Details

show
hide
Language(s): eng - English
 Dates: 2003-02
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: eDoc: 127774
ISI: 000182367700005
DOI: 10.1055/s-2003-38623
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: Neuropediatrics
  Alternative Title : Neuropediatrics
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 34 (1) Sequence Number: - Start / End Page: 30 - 35 Identifier: ISSN: 0174-304X