Lhermitte-Duclos disease

Case contributed by Royal Melbourne Hospital

Presentation

Headache

Patient Data

Age: 50 years
Gender: Male
CT

CT brain

CT with and without contrast demonstrates a speckled calcified nodule on the left side of pons, just deep to the floor of the 4th ventricle. Immediately posterior to it is a region of low density which is relatively poorly circumscribed and is a little high in attenuation than CSF. There is no enhancement. 

MRI

MRI brain

Within the left posterior aspect of the pons, reaching the fourth ventricle to the left of the midline and origin of the left middle cerebellar peduncle, is a 1.5 x 2cm lesion with a haemosiderin ring and bubbly hyperintense centre with some areas of met haemoglobin. Features are characteristic of a cavernous malformation

Posterior to it is a vague region of apparent increased T2 signal although the significance of this is uncertain, and may be artefactual. Followup recommended. Scattered white matter hyperintensities are seen elsewhere, beyond what would be expected in a patient of 50. 

Patient was lost to follow up for 5 years, and eventually had a repeat MRI. 

MRI

MRI brain

Once again, there is a 1.5 cm lesion is seen in the left pontine-middle cerebellar peduncle junction with surrounding susceptibility artefact. The lesion enhances. No intrinsic high T1 signal will surrounding oedema to suggest recent haemorrhage.This is in keeping with a cavernoma without evidence of recent haemorrhage.

A well-defined 2.5 cm lesion is in the roof of the fourth ventricle just left of the midline. This lesion demonstrates high T2 signal which incompletely fluid suppresses. It is of low signal on T1 weighted imaging. It does not enhance. Increased signal on DWI without corresponding decreased ADC values. The lesion partly effaces the fourth ventricle without evidence of obstructive hydrocephalus.

MRS performed over the 4th ventricular roof lesion shows no elevated cho/cr to particularly favour tumour. There is probable mild reduction of NAA and mild elevation of lactate peak, nonspecific. 

Perfusion shows a subtle rim of increased CBV surrounding this lesion; correlation with recent MRA shows that this rim is due to the presence of small peripheral vessels.

A posterior fossa craniotomy and biopsy were performed. 

Pathology

Histology

Sections of the cerebellum show a proliferation of large neurons in the cortex, merging focally with the much smaller neurons of the internal granular layer. The large neurons have vesicular nuclei and prominent nucleoli. Bi or multinucleated cells are absent. They are somewhat unevenly distributed. The neuropil of the white matter is prominently vacuolated with elongated appearance.  No mitoses, endothelial cell hyperplasia or necrosis are seen. No atypical astrocytes are identified. There is no evidence of malignancy. The features are those of dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease). There is a strong association between this entity and Cowden syndrome with PTEN mutations.

DIAGNOSIS: Dysplastic cerebellar gangliocytoma (WHO Grade I).

Case Discussion

The differential for this case included:

  • dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease): particularly the striated appearances on T2 weighted images
  • intra-axial epidermoid cyst: particularly the DWI hyperintensity and ADC isointensity to parenchyma
  • low grade glioma: particularly with the interval change

This case is atypical in a number of ways. First of all the relatively central location of the mass is somewhat unusual; more characteristically the mass involves the peripheral cerebellar hemisphere (e.g. this case, and this case), although similar appearances are certainly encountered (see ref 1 for a similar case). 

Secondly this patient is somewhat older than is usual, and thirdly the growth over 5 years is quite striking. 

We await follow up imaging. 

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Case information

rID: 14640
Case created: 15th Aug 2011
Last edited: 30th Jan 2016
Inclusion in quiz mode: Included

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