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Brain MRI features in Lhermitte-Duclos

disease

Achados de RM cerebral na doença de Lhermitte-Duclos

Wladimir Bocca Vieira de Rezende Pinto, Paulo Victor Sgobbi de Souza

A 24-year-old woman presented with long-standing

headache, blurred vision, and a 2-week-history of progressive

ataxia and vomiting with papilledema and Parinaud

syndrome, suggestive of raised intracranial pressure.

Neuroimaging features were highly suggestive of dysplastic

gangliocytoma of the cerebellum or Lhermitte-Duclos

dis-ease (LDD)

1,2

(Figure), which was confirmed in postsurgical

histopathological evaluation. LDD represents a rare

harma-tomatous disorder linked to germline loss of one allele of

the

PTEN

gene with subsequent loss of the remaining

allele

3,4

. Cranial nerve palsies, gait ataxia and obstructive

hydrocephalus secondary to a slowly progressive unilateral

cortical cerebellar tumor represents the most common

clinical findings

5

.

References

1. Kulkantrakorn K, Awwad EE, Levy B, et al. MRI in Lhermitte-Duclos disease. Neurology 1997;48:725-731.

2. Meltzer CC, Smirniotopoulos JG, Jones RV. The striated cerebellum: an MR imaging sign in Lhermitte-Duclos disease (dysplastic gang-liocytoma). Radiology 1995;194:699-703.

3. Nowak DA, Trost HA. Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm? Acta Neurol Scand 2002;105:137-145.

4. Shinagare AB, Patil NK, Sorte SZ. Case 144: Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease). Radiology 2009;251:298-303.

5. Nowak DA, Trost HA, Porr A, Stölzle A, Lumenta CB. Lhermitte-Duclos disease (Dysplastic gangliocytoma of the cerebellum). Clin Neurol Neurosurg 2001;103:105-110.

Divisão de Neurologia Geral, Departamento de Neurologia, Universidade Federal de São Paulo, Sao Paulo SP, Brazil.

Correspondence:Wladimir Bocca Vieira de Rezende Pinto; Rua Botucatu, 740; 04023-900 São Paulo SP, Brasil; E-mail: wladimirbvrpinto@gmail.com

Conflict of interest:There is no conflict of interest to declare.

Received 11 March 2014; Received in final form 08 May 2014; Accepted 28 May 2014.

Figure.

Sagittal T1-weighted MRI showing a superior vermian hypointense mass with brainstem compression and cerebellar tonsil

herniation (A). Axial contrast-enhanced T1-weighted MRI unvealing non-enhancing hypointense mass in the right cerebellar

hemisphere and vermis with leptomeningeal vessels enhancement in sulci between cerebellar folia (B). Axial T2-weighted (C) and

FLAIR MRI sequences (D) disclosing hyperintense gyriform pattern with enlargement of cerebellar folia and alternate high- and

normal-signal bands.

DOI:10.1590/0004-282X20140091

IMAGES IN NEUROLOGY

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