Acute Hydrocephalus Revealing Unusual Cerebellar Mass: Dysplastic Cerebellar Gangliocytoma or Lhermitte-Duclos Disease (LDD)

doi:10.4236/nm.2013.43026

Paper Menu >>

Journal Menu >>

Neuroscience & Medicine, 2013, 4, 161-165

http://dx.doi.org/10.4236/nm.2013.43026 Published Online September 2013 (http://www.scirp.org/journal/nm)

161

Acute Hydrocephalus Revealing Unusual Cerebellar Mass:

Dysplastic Cerebellar Gangliocytoma or

Lhermitte-Duclos Disease (LDD)

C. Karekezi*, M. Boutarbouch, O. Coulibaly, S. Derraz, A. El Ouahabi, A. El Khamlichi

Department of Neurosurgery, Mohamed Vth University, School of Medicine, CHU IBN SINA, Hôpital des Spécialités ONO, Rabat,

Morocco.

Email: *[email protected]

Received April 8th, 2013; revised May 12th, 2013; accepted June 14th, 2013

which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

ABSTRACT

Lhermitte-Duclos disease (LDD) or dysplastic gangliocytoma of the cerebellum is a rare benign lesion of uncertain

pathogenesis characterized by overgrowth of cerebellar ganglion cells which replace granular cells and Purkinje cells;

this results in gross thickening of the cerebellar folia. It is revealed by symptoms of raised intracranial pressure, cere-

bellar impairment and obstructive hydrocephalus. We reported the case of a 41-year-old male who presented with

symptoms of acute raised intracranial pressure. Brain computed tomography (CT) scan revealed hydrocephalus due to

compression of the 4th ventricle by a large non-enhancing left cerebellar mass. Magnetic resonance imaging (MRI)

showed a space-occupying lesion within the left cerebellar hemisphere with unusual striation. Radical surgery was re-

tained though the margins with normal cerebellar tissue were not distinct. Clinical complications after gross total or

partial removal of Lhermitte-Duclos lesions have been rarely reported in the literature; herein we stress the importance

of extreme caution in removing these lesions in cerebellar areas that have no distinct margins between the lesion and

normal tissue.

Keywords: Lhermitte-Duclos Disease; Dysplastic Gangliocytoma; MRI; Cerebellar Tiger Stripes

1. Introduction

Lhermitte-Duclos disease (LDD), or dysplastic ganglio-

cytoma, is a rare benign condition of uncertain nature

involving the cerebellum, first described by Lhermitte

and Duclos in 1920 [1]. LDD is characterized by over-

growth of cerebellar ganglion cells which replace granu-

lar cells and Purkinje cells, resulting in gross thickening

of the cerebellar folia [1,2].

In the past, this rare entity was associated with very

poor prognoses; approximately one third of patients died

from raised intracranial pressure due to mass effect from

lesion and acute hydrocephalus [3]. Subsequently, Lher-

mitte-Duclos disease has become a surgically treatable

and even curable condition. One of the major challenges

for the surgeon during surgical exploration of Lhermitte-

Duclos cerebellar tumors is the lack of clear margins

with the normal cerebellar tissue which are often not well

defined [3-5].

The goal of this article is to report the advanced mag-

netic resonance imaging (MRI) findings in a case of

LDD associated and point out the importance of extreme

caution in removing these lesions with no clear limits to

the normal cerebellar tissue.

2. Case Report

We reported the case of a 41-year-old male who pre-

sented with acute onset of severe headache, followed by

vertigo, fall and short loss of consciousness admitted to

the emergency department, disoriented with bilateral Pa-

pilledema at fundoscopy.

Head CT scan revealed hydrocephalus due to com-

pression of the 4th ventricle by a large left cerebellar

non-enhancing mass (Figure 1).

MRI sequences showed a large oedematous left cere-

bellar hemisphere with a mass lesion of abnormal signal

intensity in the region of the vermis. On T1-weighted

images, the mass was predominantly hypointense and

had typical prominent hypo- and unusual striations on

*Corresponding author.

Acute Hydrocephalus Revealing Unusual Cerebellar Mass: Dysplastic Cerebellar

Gangliocytoma or Lhermitte-Duclos Disease (LDD)

162

T2-weighted images the mass was predominantly hyper-

intense and had isointense striations. On MR spectros-

copy, N-acetyl aspartate (NAA), cholin (Cho), creatinine

(Cr) were elevated and NAA/Cr, Cho/Cr ratios were

found slightly elevated (Figures 2(a)-(d)).

Figure 1. Contrast-enhanced axial computed tomography

(CT) scan showing hypodense, non-enhancing left cerebel-

lar lesion compressing the fourth ventricle causing hydro-

cephalus.

Figure 2. (a) T1 Sagittal MRI showing hypointense right

cerebellar lesion with linear striations; (b) T1 coronal MRI

showing a non-enhanced hypointense-to-isointense right ce-

rebellar lesion with linear striations; (c) axial MRI showing

a hyperintense le sion on T2-w eighted MRI with areas of lin-

ear hypointensity streaks running throughout lesion (d)

MR spectroscopy: N-acetyl aspartate (NAA), cholin (Cho),

creatinine (Cr) elevated and NAA/Cr, Cho/Cr ratios were

found slightly elevated.

The patient underwent an emergent ventricular perito-

neal shunting for hydrocephalus with prompt improve-

ment of signs of raised intracranial pressure. At day8

post shunting, patient underwent suboccipital craniec-

tomy and C-1 laminectomy with resection of the left

cerebellar lesion. During the operation, the poorly de-

marcated lesion was hardly excised from the apparently

normal surrounding cerebellar tissue; the margins with

normal cerebellar tissue were not clearly distinct result-

ing in subtotal removal (Figure 3).

Histological examination showed diffuse replacement

of tightly packed, small neurons of granule cell layer-

Figure 3. Axial CT scan showing partial resection of lesion

with no clear limits with the normal tissue.

Figure 4. (a) Enlarged and distorted cerebellar folia with-

Molecular and internal granular layers Enlarged with dys-

plastic ganglion cells; (b) Dysplastic ganglion cells positive

for synaptophysin.

Acute Hydrocephalus Revealing Unusual Cerebellar Mass: Dysplastic Cerebellar

Gangliocytoma or Lhermitte-Duclos Disease (LDD)

163

by large cells, with ganglion cell-like features, abnor-

mally myelinated axons extended from granular layer to

the overlaying molecular layer, which appeared expand-

ed. Synaptophysin immunoreactivity was present in the

large neuronal cells; Immunohistochemistry for endothe-

lial markers revealed numerous venular spaces in lepto-

meninges, granular and molecular layers; confirming

Lhermitte-Duclos Disease (Figures 4(a) and (b)).

Day two postoperative was marked by rapidly in-

creased intracranial pressure with loss of consciousness.

Brain CT scan revealed marked brain swelling in the

posterior fossa with brainstem compression and herni

ation without hydrocephalus. The patient remained deeply

unconscious with a marked electrolyte imbalance. Death

occurred before any emergent decompression.

3. Discussion

First described by Lhermitte and Duclos in 1920, rare

benign lesion of uncertain pathogenesis; approximately

220 patients with LDD have been reported in the litera-

ture in 2006 [1]. LDD is characterized by overgrowth of

cerebellar ganglion cells which replace granular cells and

Purkinje cells resulting in gross thickening of the cere-

bellar folia. There is still considerable controversy over

the cause of this disease: It is now considered to have a

hamartomatous rather than a neoplastic origin though

classified as a WHO grade I tumor [2,3].

Lhermitte-Duclos has clinical evidence and close as-

sociation with a multiple hamartoma-neoplasia complex

known as Cowden syndrome [3]. Cowden syndrome has

autosomal dominant inheritance and is characterized by a

variety of mucocutaneous lesions, macrocephaly, and

increased frequency of hamartomas and neoplasia in the

breast, thyroid, colon, genitourinary organs, and central

nervous system [2,3]. It is considered that patients with

Cowden syndrome have germline mutations in the PTEN

gene at locus 10q23.2, which has been identified as the

major susceptibility gene for Cowden syndrome [2-4,7].

Hence, patients with Cowden syndrome should undergo

an MR examination of the brain to rule out associated

dysplastic cerebellar gangliocytoma and vice versa [4].

Dysplastic cerebellar gangliocytoma is seen most fre-

quently in young adults (average age, 34 years). Less

frequently, it occurs in pediatric patients [6-8]. There is no

sex predilection. Clinically, patients may be asympto-

matic, or they may present with symptoms and signs of

increased intracranial pressure. Headache, vertigo, cere-

bellar symptoms and sudden neurologic deterioration as a

result of occlusive hydrocephalus are frequent findings.

The anamnesis finds long-standing symptoms that have

been present for years that may point to the slowly pro-

gressive nature of this disease [9].

Imaging plays an important role in the diagnostic

process, the dysplastic gangliocytoma is hypo-attenuated

on unenhanced computed tomographic (CT) images

[10,11]. MR imaging is the modality of choice, as it is for

any posterior fossa abnormality, MR imaging reveals a

cerebellar mass with a typical striated or tiger-striped

folial pattern that consists of alternating bands on both T1-

and T2-weighted images, MR spectroscopy reveals re-

duced N-acetylaspartate-choline and N-acetylaspartate-

creatine ratios compared with those of normal cerebellar

tissue, lactate peak may also be present [11,14]. MR im-

aging is also invaluable for preoperative planning and as

an aid to determine the extent of resection. In asympto-

matic patients, MR imaging helps in the assessment of the

lesion extent, mass effect, presence of hydrocephalus, and

need to perform surgery. Regular follow-up is required

[13,14].

Lhermitte-Duclos disease clinical presentation follow

the insidious expansion in the posterior cerebral fossa,

surgery appears to be the only option relieve symptoms by

especially in patients with raised intracranial pressure to

avoid brain herniation and death. As the lesion is catego-

rized as a WHO grade I tumor, a conservative “wait and

see” strategy can be chosen especially in cases without

elevated intracranial pressure. Clinical and radiologic

follow-ups with MR imaging should be preferred in such

cases [15,16].

Drainage of the CSF by a ventricular shunt or by third

endoscopic ventriculo-cisternostomy (ETV) might be

preferred initially for the obstructive hydrocephalus and

followed by tumor resection. However, complete resec-

tion may be difficult because of poorly defined margins.

The lesion usually blends into normal cerebellar paren-

chyma and frequently, during surgical exploration, no

tumour mass can be found, thus the absence of tumour

limits in the depth of the cerebellar hemisphere constitutes

the major technical problem during surgery.

This macroscopic appearance is confirmed by histo-

pathological findings demonstrating a transitional area

between normal and pathological cerebellar tissue. His-

tological examination reveals change in the normal cere-

bellar cortical cell layers with dysplastic hypertrophied

ganglion cells leading to expansion of the granule layer

and increased myelination in the molecular layer causing

it to widen.

Because this transition from normal to pathological

cerebellar tissue is gradual, accompanied by histologically

verified disappearance of Purkinje cells and central white

matter; the lack of a sharp border between the tumour and

cerebellar tissue limits the accuracy of surgical excision.

Lhermitte-Duclos tumours are not always completely

removable lesions, for which normal recovery seems to be

possible.

Acute Hydrocephalus Revealing Unusual Cerebellar Mass: Dysplastic Cerebellar

Gangliocytoma or Lhermitte-Duclos Disease (LDD)

164

Most patients have an uneventful postoperative period;

some cases with post-operative posterior fossa brain

swelling have been reported due to insufficiency tumor

removal by lack of clear margins between normal tissue

and the lesion; Yang Ms et al. [16] have reported a similar

case with post-operative brain swelling aggravating the

hydrocephalus resulting in an additional shunting; Afshar-

Oromieh et al. reported a case of post-operative cerebel-

lar mutism following a removal of LDD lesion, with dif-

ficulty to distinguish between tumor and healthy cere-

bellar tissue, resulting in extensive resection and neuron-

logical deficits [17].

In accordance with previous observations, our case of

Lhermitte-Duclos disease was macroscopically characte-

rized by an indistinct border between the normal and

tumour tissue. Nevertheless, surgical resection of the

cerebellar mass is undoubtedly the correct course of

treatment and clinical problems after gross macroscopic

or total removal of the disease have rarely been reported in

the literature. Surgical technics to distinguish the precise

margins of the abnormal tissue of the tumour from the

normal cerebellar tissue have to be discussed for the re-

moval of these kinds of lesions.

4. Conclusion

In conclusion, LDD is a rare cause of posterior fossa

masses characterized by symptoms of raised intracranial

pressure and atypical, “tiger striped” pattern on conven-

tional MRI. Complete surgical resection of the cerebellar

mass remains undoubtedly the correct course of treat-

ment but most of the time unachieved due to lack of dis-

tinct borders between the lesion and the normal cerebel-

lar tissue. Clinical complications after gross macroscopic

or total removal of the disease have rarely been largely

discussed in the literature and are still a major challenge

for the surgeon. Extreme caution should be taken in re-

moving these lesions in cerebellar areas that have no dis-

tinct borders between the lesion and normal tissue. In-

complete removal of the mass may result in cerebellar

swelling and clinical deterioration. Coexistence with

Cowden syndrome should prompt thorough clinical ex-

amination and necessary investigations to detect or ex-

clude concomitant malignancies.

REFERENCES

[1] S. Derrey, F. Proust, B. Debono, O. Langlois, A. Layet

and V. Layet, “Association between Cowden Syndrome

and Lhermitte-Duclos Disease: Report of Two Cases and

Review of the Literature,” Neurochirurgie, Vol. 52, No. 5,

2006, pp. 407-414. doi:10.1016/S0090-3019(03)00576-7

[2] S. Robinson and A. R. Cohen, “Cowden Disease and Lher-

mitte-Duclos Disease: Characterization of a New Phaco-

matosis,” Neurosurgery, Vol. 46, 2000, pp. 371-383.

doi:10.1097/00006123-200002000-00021

[3] S. Robinson and A. R. Cohen, “Cowden Disease and Lher-

mitte-Duclos Disease: An Update. Case Report and Re-

view of the Literature,” Neurosurgical Focus, Vol. 20,

No. 1, 2006, p. E6. doi:10.3171/foc.2006.20.1.7

[4] T. C. Tan and L.C Ho, “Lhermitte-Duclos Disease Asso-

ciated with Cowden Syndrome,” Journal of Clinical Neu-

roscience, Vol. 14, No. 8, 2007, pp. 801-805.

doi:10.1016/j.jocn.2006.06.007

[5] B. Yağci-Küpeli, K. K. Oguz, M. A. Bilen, B. Yalçin and

N. Akalan, “An Unusual Cause of Posterior Fossa Mass:

Lhermitte-Duclos Disease,” Journal of the Neurological

Sciences, Vol. 290, No. 1-2, 2010, pp. 138-141.

doi:10.1016/j.jns.2009.12.010

[6] C. Murray, P. Shipman and M. Khangure, “Lhermitte-

Duclos Disease Associated with Cowden’s Syndrome:

Case Report and Literature Review,” Australasian Radi-

ology, Vol. 45, No. 3, 2001, pp. 343-346.

doi:10.1046/j.1440-1673.2001.00933.x

[7] N. G. Rainov, H. J. Holzhausen and W. Burkert, “Dys-

plastic Gangliocytoma of the Cerebellum (Lhermitte-Du-

clos Disease),” Clinical Neurology and Neurosurgery,

Vol. 97, No. 2, 1995, pp. 175-180.

doi:10.1016/0303-8467(95)00017-E

[8] F. Barone, B. A. Noubari, A. Torrisi, S. Lanzafame and R.

Tropea , “Lhermitte Duclos Disease and Cowden Disease:

Clinical, Pathological and Neuroimaging Study of a Case,”

Journal of Neurosurgical Sciences, Vol. 44, No. 4, 2000,

pp. 234-237.

[9] A. D. Nowak, A. H. Trost, A. Porr, A. Stolzle and C. B.

Lumenta, “Lhermitte-Duclos Disease (Dysplastic Ganglio-

cytoma of the Cerebellum),” Clinical Neurology and Neu-

rosurgery, Vol. 103, No. 2, 2001, pp. 105-110.

doi:10.1016/S0303-8467(01)00124-X

[10] S. Nagaraja, T. Powell, P. D. Griffiths and I. D. Wilkin-

son, “MR Imaging and Spectroscopy in Lhermitte-Duclos

Disease,” Neuroradiology, Vol. 46, No. 5, 2004, pp. 355-

358. doi:10.1007/s00234-004-1201-7

[11] E. Özkavukcu, P. S. Öztekin and E. I. Erden, “Preopera-

tive Diagnosis of Lhermitte-Duclos Disease: MRI and

1H-MR Spectroscopy Findings,” European Journal of Ra-

diology Extra, Vol. 64, No. 3, 2007, pp. 83-86.

doi:10.1016/j.ejrex.2007.08.005

[12] T. Faillot, J. Sichez, J. Brault, L. Capelle, M. Kujas, L.

Bordi, et al., “Lhermitte-Duclos Disease (Dysplastic Gan-

gliocytoma of the Cerebellum). Report of a Case and Re-

view of the Literature,” Acta Neurochirurgica, Vol. 105,

No. 1-2, 1990, pp. 44-49. doi:10.1007/BF01664857

[13] C. C. Meltzer, J. G. Smirniotopoulos and R. V. Jones,

“The Striated Cerebellum: An MR Imaging Sign in Lher-

mitte-Duclos DIsease (Dysplastic Gangliocytoma),” Ra-

diology, Vol. 194, No. 3, 1995, pp. 699-703.

[14] L. J. Qian, J. R. Xu and L. Y. Zheng, “Neurological Pic-

ture. Lhermitte-Duclos Disease,”Journal of Neurology,

Neurosurgery & Psychiatry, Vol. 81, No. 3, 2010, pp.

255-256. doi:10.1136/jnnp.2009.182808

Acute Hydrocephalus Revealing Unusual Cerebellar Mass: Dysplastic Cerebellar

Gangliocytoma or Lhermitte-Duclos Disease (LDD)

165

[15] L. Zhou, L. Luo, X. Hui, C. You, Y. Yang and J. Xu

“Three Adolescents with Lhermitte-Duclos Disease,” Jour-

nal of Clinical Neuroscience, Vol. 16, No. 1, 2009, pp.

124-127. doi:10.1016/j.jocn.2008.02.023

[16] M. S. Yang, C. H. Kim, J. H. Cheong and J. M. Kim,

“Lhermitte-Duclos Disease Presenting with Hydrocepha-

lus,” Acta Neurochirurgica Supplement, Vol. 113, 2012,

pp. 161-165. doi:10.1007/978-3-7091-0923-6_32

[17] A. Afshar-Oromieh, H. Linhart, D. Podlesek, W. Sch-

rempf, G. Schackert and D. Krex, “Postoperative Cere-

bellar Mutism in Adult Patients with Lhermitte-Duclos

Disease,” Neurosurgery Review, Vol. 33, No. 4, 2010, pp.

401-408. doi:10.1007/s10143-010-0278-1