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LETTERS TO EDITOR
Year : 2016  |  Volume : 64  |  Issue : 1  |  Page : 162-164

Lhermitte–Duclos disease as a cranial manifestation of Cowden syndrome


1 Department of Neurosurgery, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India
2 Department of Pathology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India

Date of Web Publication11-Jan-2016

Correspondence Address:
Ashish Kumar
Department of Neurosurgery, Nizam's Institute of Medical Sciences, Hyderabad, Telangana
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.173658

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How to cite this article:
Kumar N, Kumar A, Uppin M. Lhermitte–Duclos disease as a cranial manifestation of Cowden syndrome. Neurol India 2016;64:162-4

How to cite this URL:
Kumar N, Kumar A, Uppin M. Lhermitte–Duclos disease as a cranial manifestation of Cowden syndrome. Neurol India [serial online] 2016 [cited 2021 Oct 28];64:162-4. Available from: https://www.neurologyindia.com/text.asp?2016/64/1/162/173658


Sir,

Lhermitte–Duclos disease (LDD), also known as dysplastic cerebellar gangliocytoma, is a rare tumor of the cerebellum. It is probably hamartomatous, although the exact pathogenesis remains unknown. It is considered as a World Health Organisation (WHO) grade I tumor. LDD is associated with many syndromes, and when associated with Cowden disease, it is referred to as Lhermitte–Duclos–Cowden syndrome.

A 35-year-old woman came to us with a history of severe headache, blurring of vision, and ataxia for 15 days. She had pigmented skin lesions over both malar prominences since childhood [Figure 1]. Plain CT of the brain revealed a hypodense lesion in the right cerebellar hemisphere extending into the vermis, with effacement of the fourth ventricle. T2-weighted (W) MRI showed enlarged folia in the right cerebellum, with alternating iso- and hyperintense bands [Figure 2]. A medium-pressure ventriculoperitoneal (VP) shunt was done on the right side, following which she was evaluated for any syndromic associations. Colonoscopy revealed multiple hamartomatous polyps in the rectum and the sigmoid colon, and their histopathological examination was in favor of Cowden disease [Figure 3]. The patient underwent a suboccipital craniotomy, and debulking of the lesion was done. Intraoperatively, the left cerebellar surface was bulky, and enlarged folia were seen [Figure 4]. Moreover, histopathology confirmed dysplastic gangliocytoma of the cerebellum [Figure 5]. Her chromosomal study result for phosphatase and tensin homolog (PTEN) mutation was awaited.
Figure 1: Hyperkeratotic papules with pigmentation seen over bilateral malar prominences

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{Figure 2}
Figure 3: Colonoscopy showed rectal and sigmoid colon mucosa carpeted with small hamartomatous polyps 2–5 mm in size

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Figure 4: Intraoperative image shows enlarged folia on the left side suggestive of Lhermitte–Duclos disease

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Figure 5: (a) The normal layering of the cerebellum. (b) The molecular layer is expanded and shows many ganglion cells. (c and d) The ganglion cells with eccentric nucleus and abundant eosinophilic cytoplasm

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Lhermitte–Duclos disease is characterized by a slowly enlarging mass within the cerebellar cortex, first described in 1920[1] by Lhermitte and Duclos. Cowden syndrome (CS) is an autosomal dominant disorder characterized by mucocutaneous lesions, systemic hamartomas, and a high incidence of breast, thyroid, genitourinary, and endometrial cancers.[2] CS is associated with mutations of PTEN, a tumor suppressor gene at locus 10q23.2, causing the PTEN protein to have altered function leading to hyperactivity of the mammalian target of rapamycin (mTOR) pathway, which regulates cell growth, proliferation, and cell survival. Association between CS and LDD was described in 1991.[3] LDD constitutes one of the major criteria in the diagnosis of CS (as in our case) along with breast, thyroid, and endometrial carcinoma. Considering the premalignant nature of CS, complete evaluation of patients is to be considered. Macroscopically, LDD represents a focally indolent growth of the cerebellar cortex, resulting in gross thickening of the cerebellar folia. The enlarged folia lose their secondary folding and asymmetrically expand the cerebellar hemisphere. The disease is typically unilateral, with a predilection for the left cerebellar hemisphere. Patients with LDD usually present with symptoms due to raised intracranial pressure and obstructive hydrocephalus, and rarely due to cerebellar signs and cranial nerve deficits. The unique pattern of the parallel linear striations on MRI, especially T2W imaging, giving a “tiger-stripe” appearance [4] allows an accurate preoperative diagnosis of LDD and hence further workup becomes essential. In our case, the patient's history, dermatological manifestations, LDD, and hamartomatous polyps in the distal bowel were in favor of the diagnosis of Cowden syndrome. For treatment, initially, hydrocephalus should be managed, and the primary lesion should be dealt with either in the same setting or after stabilization of the intracranial pressure by cerebrospinal fluid diversion. Surgery is the treatment of choice, and outcome in those who are not treated surgically is poor in view of progressive enlargement of the tumor. To conclude, detection of LDD should prompt us to look for its syndromic association, as in this case. Further workup is required including screening for genitourinary carcinomas and chromosomal analysis for PTEN mutations along with a workup of first-degree relatives for any manifestations.

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.
Lhermitte J, Duclos P. Sur un ganglioneurome diffus du cortex du cervelet. Bull Assoc Fr Etude Cancer 1920;9:99-107.  Back to cited text no. 1
    
2.
Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, et al. Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet 1996;13:114-6.  Back to cited text no. 2
    
3.
Padberg GW, Schot DL, 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. 3
    
4.
Meltzer CC, Smirniotopoulos JG, Jones RV. The striated cerebellum: An MR imaging sign in Lhermitte-Duclos diease (dysplasic gangliocytoma). Radiology 1995;194:699-703.  Back to cited text no. 4
    


    Figures

  [Figure 1], [Figure 1], [Figure 3], [Figure 4], [Figure 5]



 

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