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 Table of Contents  
CASE REPORT
Year : 2018  |  Volume : 7  |  Issue : 4  |  Page : 266-269

Dysplastic cerebellar gangliocytoma (Lhermitte–Duclos disease) in the immediate postpartum period


Department of Neurosurgery, The Grant Government Medical College, Mumbai, Maharashtra, India

Date of Web Publication15-Oct-2018

Correspondence Address:
Dr. Prashant S Gade
Department of Neurosurgery, The Grant Government Medical College, Mumbai, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijhas.IJHAS_16_18

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  Abstract 


Lhermitte–Duclos disease, also known as dysplastic cerebellar gangliocytoma, is a rare lesion of the cerebellar cortex with both neoplastic and hamartomatous features. A “tiger-striped” cerebellar lesion with unilateral hemispheric expansion and preservation of the gyral pattern is a characteristic finding on magnetic resonance imaging brain. It usually occurs in the setting of Cowden's syndrome, an autosomal dominant condition characterized by multiple hamartomas and neoplastic lesions in skin and internal organs. Evolution of dysplastic cerebellar gangliocytoma during pregnancy is not well known, given its rarity. We describe a young female who presented in the immediate postpartum period with acute hydrocephalus secondary to the left cerebellar gangliocytoma and was treated successfully with surgery. The background setting of Cowden's syndrome was not present in our case.

Keywords: Cowden's syndrome, Lhermitte–Duclos, pregnancy


How to cite this article:
Gade PS, Naik HR, Bhople L, Velho V. Dysplastic cerebellar gangliocytoma (Lhermitte–Duclos disease) in the immediate postpartum period. Int J Health Allied Sci 2018;7:266-9

How to cite this URL:
Gade PS, Naik HR, Bhople L, Velho V. Dysplastic cerebellar gangliocytoma (Lhermitte–Duclos disease) in the immediate postpartum period. Int J Health Allied Sci [serial online] 2018 [cited 2018 Dec 12];7:266-9. Available from: http://www.ijhas.in/text.asp?2018/7/4/266/243265




  Introduction Top


Lhermitte–Duclos disease (LDD) – dysplastic gangliocytoma of the cerebellum – is a rare benign cerebellar mass of unknown etiology, characterized by enlargement of the cerebellar folia with abnormal dysplastic ganglion cells. The clinical presentation is often nonspecific and is related to increased intracranial pressure, cerebellar dysfunction, and cranial nerve deficits. In spite of the controversy surrounding its pathogenesis, imaging and histopathological findings are rather typical of this condition. Magnetic resonance imaging (MRI) brain is the diagnostic study of choice and characterized by classic “tiger-striped” appearance. The correct diagnosis of this disease is particularly important, as it can be a part of familial Cowden's syndrome and, therefore, the need to identify concurrent malignancies.

A thorough literature search found only two cases of LDD in pregnancy. We describe a young female who presented in the immediate postpartum period with acute hydrocephalus secondary to the left cerebellar gangliocytoma and was treated successfully with surgery.


  Case Report Top


A 25-year-old female presented to the emergency room 2 weeks after a full-term normal vaginal delivery with a history of headache for 1 week, associated with 2–3 episodes of vomiting, blurring of vision, and imbalance while walking. Medical and surgical history was unremarkable. On neurological examination, she was conscious, cranial nerves were normal, and cerebellar signs were positive on the left side. An ophthalmic examination revealed moderate bilateral papilledema.

She was investigated with computed tomography (CT) brain with contrast which revealed a large, well-defined, heterogeneous, nonenhancing, space-occupying lesion in the left cerebellar hemisphere, causing compression of the brainstem and fourth ventricle with obstructive hydrocephalus.

Conventional MRI associated with diffusion imaging and spectroscopy showed a large, heterogeneous, expanding intra-axial mass lesion in the left cerebellar hemisphere. The lesion appeared as hypointense on T1 and hyperintense on T2 and fluid-attenuated inversion recovery images without any contrast enhancement and showed characteristic striated cystic appearance [Figure 1]. There was no evidence of restriction on diffusion-weighted images. There was compression of the brainstem and the fourth ventricle with moderate hydrocephalus with periventricular ooze. Herniation of the cerebellar tonsil into the upper cervical canal was seen. MR spectroscopy showed a decrease in the choline peak and reduced N-acetylaspartic acid (NAA).
Figure 1: (a) T2-weighted image showing predominantly hyperintense left cerebellar mass with alternating bands, isointense and hyperintense to gray matter, creating the characteristic “tiger-striped” appearance with perilesional edema, mass effect, and hydrocephalus. (b) Contrast-enhanced T1-weighted axial image showing nonenhancing intra-axial mass in the left cerebellar hemisphere

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Based on the imaging findings, the diagnosis of dysplastic cerebellar gangliocytoma was made. She underwent emergent ventriculoperitoneal shunt for cerebrospinal fluid diversion. Repeat CT of the brain showed resolution of hydrocephalus. One week later, near-total excision of the lesion was done by a left paramedian suboccipital craniotomy approach. Intraoperatively, a viscous, pale, poorly demarcated, glioma-like mass was found in the deep-seated portion of the left cerebellar hemisphere without any distinct boundary between a pathological lesion and a healthy cerebellar tissue, resulting in difficulty during resection.

Histopathological examination showed relatively preserved cerebellar architecture with enlargement of the folia. There was diffuse enlargement of the molecular and internal granular layers of the cerebellum which were filled with dysplastic ganglion cells of varying sizes, suggestive of dysplastic cerebellar gangliocytoma [Figure 2]. Immunohistochemistry markers confirmed the diagnosis. Postoperative recovery was uneventful, except transient cerebellar signs on the left side. During follow-up, the patient had complete regression of cerebellar ataxia and cerebral symptoms. She underwent a thorough systemic evaluation to rule out any occult malignancy.
Figure 2: Photomicrograph showing cerebellar cortical cell layer with dysplastic hypertrophied ganglion cells (H and E, ×400)

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  Discussion Top


Dysplastic cerebellar gangliocytoma is an extremely rare condition, described by two French physicians, Jacques Jean Lhermitte and P. Duclos in 1920.[1] They referred to it as a cerebellar neurinoma, a tumor of ganglion cells arising in a congenital malformation of the cerebellum. The eponym bears their names: “Lhermitte–Duclos disease.” The first six cases of LDD were described from the autopsy specimens, and the first surgically removed specimen was taken in 1937.

The controversy about pathogenesis of this lesion is reflected in the many names given to it over the years: “ganglioneuroma”, “dysplastic gangliocytoma”, “hamartoma of the cerebellum”, “Purkinjeoma”, “granule cell hypertrophy”, “granulomolecular hypertrophy of the cerebellum”, and “Lhermitte–Duclos disease”. According to the WHO Classification of Tumors of the Central Nervous System, the currently preferred name for this disease is either “dysplastic gangliocytoma of the cerebellum” or “Lhermitte–Duclos disease”.

It is considered as a complex hamartoma or malformation, rather than a true neoplasm, and is characterized by progressive tumor-like mass which forms and replaces the normal architecture in the cerebellum.[2] The LDD is classically described as a disease with unilateral mass in the cerebellar hemisphere. In the literature, there was only one reported case of LDD with bilateral lesions of the cerebellum identified at autopsy.[3]

The disease usually manifests in young adults, but the age at presentation ranges from birth to the sixth decade. There is no sex predilection. Clinically, patients may be asymptomatic or may present with symptoms of ataxia, headache, cranial nerve palsy, vertigo, psychiatric symptoms, and in severe cases, signs and symptoms of intracranial hypertension secondary to hydrocephalus. Usually, patients have long-standing symptoms, indicating the slowly progressive nature of this disease.

Imaging plays an important role in the diagnostic process, and accurate preoperative diagnosis of LDD can be made based on the characteristic MRI appearance. On CT images, the dysplastic gangliocytoma appears as a hypoattenuated mass without any contrast enhancement. CT is of a limited value, and only diagnostic clue may be the mass effect, which manifests as compression of the fourth ventricle, effacement of the cerebellopontine angle cistern, and hydrocephalus.

At present, conventional MRI along with diffusion imaging and spectroscopy is the most useful imaging method for the definite diagnosis.[4] MRI shows an expansile mass lesion which is typically hypointense on T1-weighted sequence and hyperintense on the T2-weighted sequence. The mass is characterized by parallel hyperintense striations related to thickening of the cerebellar folia due to enlargement of the cortical cells and dysplasia of the sulci, which are considered pathognomonic signs of LDD. A “tiger-striped” cerebellar lesion with unilateral hemispheric expansion and preservation of the gyral pattern is reported as a specific sign for LDD, and these findings often establish the diagnosis.[5] On administration of contrast, the lesion does not show any enhancement, indicating a nonsignificant alteration of the blood–brain barrier and the absence of extracellular edema.

Diffusion MR shows areas of hypersignal without correlation with areas of signal loss on the apparent diffussion coefficient (ADC) map, not demonstrating true restriction, but a T2 shine through. Some cases with restricted diffusion within LDD lesion have been reported and likely reflect hypercellularity and dense collection of axons. MR spectroscopy reveals a typical spectrum of appearance of a double lactate peak, reduction in the choline peak, and reduced NAA. A reduction in choline levels indicates a cellular turnover associated with demyelination and supports the dysplastic nature of the lesion.

On gross examination, involved cerebellar folia appear to be distorted and enlarged which efface the sulci. Histopathological examination reveals disruption of the normal cerebellar cortical cell layers with dysplastic hypertrophied ganglion cells leading to expansion of the granular cell layer and increased myelination in the molecular layer causing it to widen. There is a loss of Purkinje cells and atrophy of the cerebellar white matter. Mitotic activity, necrosis, and endothelial proliferation are characteristically absent, indicative of the benign nature of the lesion. No case of malignant transformation has been reported. Neurons of gangliocytoma do not divide, but the tumor size can slowly increase due to growth and myelination of neuronal processes.

Approximately, 40% of cases of LDD are associated with Cowden's disease and considered as a pathognomonic for this disease.[6] Cowden's disease is a rare autosomally dominant multiple hamartoma–neoplasia syndrome characterized by mucocutaneous lesions and a strong association with breast, thyroid, and endometrial cancers. Eighty percent of patients with Cowden's syndrome have germline mutations in the PTEN gene at locus 10q23.2, which has been identified as the major susceptibility gene for Cowden's syndrome. Most LDD patients appear to have a germline loss of the PTEN allele and go on to lose the remaining PTEN allele at some point, thereby allowing abnormal growth of the granule cells. Patients diagnosed with LDD must be adequately evaluated for Cowden's syndrome which may lead to early detection of malignancy.

To the best of our knowledge, only two cases of LDD associated with pregnancy and/or puerperium have been reported in the literature till date.[7] Pregnancy is known to accelerate the growth of intracranial neoplasms leading to acute presentations as was seen in our case. At present, there are insufficient data to comment on the effect of LDD on pregnancy and vice versa.


  Conclusion Top


LDD is a rare disease with the slow aggravation of symptoms. LDD is a hamartomatous mass lesion of the cerebellum having a characteristic imaging appearance. More experience will be needed with this disease in pregnancy and postdelivery period to recommend pregnancy for women with this condition. However, this case shows that a pregnant woman with LDD could reach full-term pregnancy and deliver a healthy child, without serious risk for her life. Association with Cowden's syndrome could not be proved in our case, and therefore, this was considered to be a sporadic case of the LDD.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
L'hermitte J, Duclos P. On the diffuse ganglioneuroma of the cerebellar cortex. Bull Assoc Fr Etud Cancer 1920;9:99-107.  Back to cited text no. 1
    
2.
Nowak DA, Trost HA. Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): A malformation, hamartoma or neoplasm? Acta Neurol Scand 2002;105:137-45.  Back to cited text no. 2
    
3.
Bozbuga M, Gulec I, Suslu HT, Bayindir C. Bilateral Lhermitte-Duclos disease. Neurol India 2010;58:309-11.  Back to cited text no. 3
[PUBMED]  [Full text]  
4.
Thomas B, Krishnamoorthy T, Radhakrishnan VV, Kesavadas C. Advanced MR imaging in Lhermitte-Duclos disease: Moving closer to pathology and pathophysiology. Neuroradiology 2007;49:733-8.  Back to cited text no. 4
    
5.
Meltzer CC, Smirniotopoulos JG, Jones RV. The striated cerebellum: An MR imaging sign in Lhermitte-Duclos disease (dysplastic gangliocytoma). Radiology 1995;194:699-703.  Back to cited text no. 5
    
6.
Padberg GW, Schot JD, Vielvoye GJ, Bots GT, de Beer FC. Lhermitte-Duclos disease and Cowden disease: A single phakomatosis. Ann Neurol 1991;29:517-23.  Back to cited text no. 6
    
7.
Franko A, Holjar-Erlic I, Miletic D, Petrovic O. Lhermitte-Duclos disease and pregnancy. Radiol Oncol 2006;40:17-21.  Back to cited text no. 7
    


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