Lhermitte-Duclos Disease – a Case Report

Czech version

Authors: V. Vybíhal ¹ ; P. Fadrus ¹; M. Duba ¹; M. Vidlák ¹; A. Šprláková-Puková ²; L. Křen ³
Authors‘ workplace: LF MU a FN Brno Neurochirurgická klinika ¹; LF MU a FN Brno Radiologická klinika ²; LF MU a FN Brno Ústav patologie ³
Published in: Cesk Slov Neurol N 2010; 73/106(5): 563-567
Category: Case Report

Overview

Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) is a rare benign lesion. According to the the most recent WHO classification (2007), the disease is considered a hamartoma or tumour (WHO grade 1). A number of authors incline to the opinion that it is of hamartogenous origin, basing their view on the results of recent genetic studies. Clinical symptoms of the disease include cerebellar symptoms and signs of compression of the brain stem and cranial nerves, while the disease may also be associated with intracranial hypertension syndrome. Magnetic resonance examination is the best diagnostic imaging technique, since as it reveals a unique pattern for the disorder. Dysplastic gangliocytoma of the cerebellum may be associated with Cowden disease. This is an autosomal dominant condition that results mainly from a mutation of the PTEN gene. Multiple hamartomas are specific to Cowden disease, which is associated with high risk of systemic malignancies. Radical surgery is the optimum treatment approach but may not be feasible in all cases. Genetic examination is always essential in order to exclude Cowden disease. The authors present the case report of a 32-year-old man with a history of cerebellar signs and obstructive hydrocephalus. On the basis of the results of magnetic resonance imaging, radical resection of a tumour was performed and the patient has been without signs of residuum of the tumour or recurrence since. The results of the genetic examination were negative.

Key words:
Lhermitte-Duclos disease – dysplastic gangliocytoma of the cerebellum – Cowden syndrome

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