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Neuropediatrics 2003; 34(1): 30-35
DOI: 10.1055/s-2003-38623
Original Article

Georg Thieme Verlag Stuttgart · New York

Lhermitte-Duclos Disease in 3 Children: A Clinical Long-Term Observation

A. Capone Mori 1 , M. Hoeltzenbein 2 , M. Poetsch 3 , J. F. Schneider 4 , S. Brandner 5 , 6 , E. Boltshauser 1
  • 1Department of Neurology, University Children's Hospital, Zurich, Switzerland
  • 2Department of Human Molecular Genetics, Max-Planck-Institute for Molecular Genetics, Berlin-Dahlem, Germany
  • 3Department of Forensic Medicine, University Greifswald, Greifswald, Germany
  • 4Department of Neuroradiology, University Children's Hospital, Zurich, Switzerland
  • 5Institute of Neuropathology, University Hospital, Zurich, Switzerland.
  • 6Present address: Institute of Neurology, Queen Square, London WC1 N3BG, U.K.
Further Information

Publication History

Received: August 1, 2002

Accepted after Revision: December 16, 2002

Publication Date:
11 April 2003 (online)

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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.

Key words

Lhermitte-Duclos disease - gangliocytoma - Cowden disease - PTEN mutation - cerebellum - child

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Prof. E. Boltshauser

Department of Neurology, University Children's Hospital

Steinwiesstraße 75

8032 Zurich

Switzerland

Email: eugen.boltshauser@kispi.unizh.ch