User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse




Journal Article

Lhermitte-Duclos disease in 3 children: A clinical long-term observation


Hoeltzenbein,  M.
Max Planck Society;

External Ressource
No external resources are shared
Fulltext (public)
There are no public fulltexts stored in PuRe
Supplementary Material (public)
There is no public supplementary material available

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.

Cite as: http://hdl.handle.net/11858/00-001M-0000-0010-8AB2-D
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.