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Year : 2012  |  Volume : 55  |  Issue : 1  |  Page : 107-108
Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) as a component of Cowden syndrome


1 Department of Pathology, Government Medical College, Kozhikode, Kerala, India
2 Department of Neurosurgery, Government Medical College, Kozhikode, Kerala, India

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Date of Web Publication11-Apr-2012
 

How to cite this article:
Govindan A, Premkumar S, Alapatt JP. Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) as a component of Cowden syndrome. Indian J Pathol Microbiol 2012;55:107-8

How to cite this URL:
Govindan A, Premkumar S, Alapatt JP. Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) as a component of Cowden syndrome. Indian J Pathol Microbiol [serial online] 2012 [cited 2019 Dec 6];55:107-8. Available from: http://www.ijpmonline.org/text.asp?2012/55/1/107/94875


A 42-year-old woman presented with progressive headache and weakness of right upper limb of two months duration. General examination revealed multiple healed ulcers on her right hand, keratosis on dorsum of feet, multi-nodular goiter and neuropathic joint of right elbow. Neurological examination showed features of raised intracranial tension, wasting of thenar and hypothenar muscles of right hand, grade IV power in the right upper limb with dissociated sensory loss and positive cerebellar signs on the right side. Her thirteen-year-old daughter had dolichocephaly with history of recurrent episodes of generalized seizures.

Magnetic resonance imaging (MRI) revealed an enlarged right cerebellum with alternate bands of hypo and hyper intensities ('tiger-striped' appearance) on T2 weighted images which was diagnostic [Figure 1]. A similar lesion was also seen in the left frontal white matter with compression of fourth ventricle and minimal brain stem rotation. There was no contrast enhancement. There was also tonsillar herniation and syrinx formation. Per-operatively, the cerebellar folia on the right side were irregularly thickened and pearly gray. The tumor was indistinctly merging with normal tissue. Subtotal resection of the poorly demarcated lesion was done.
Figure 1: T2 weighted MR image showing the characteristic "tiger-striped" appearance with alternate strips of hypo and hyperintensities in the enlarged right cerebellar hemisphere

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Histopathological examination revealed enlarged and distorted cerebellar folia with the molecular and internal granular layers showing proliferated, dysplastic ganglion cells of varying sizes. A layer of abnormal myelinated fibers were seen on the outer aspect of the folia. [1] The dysplastic ganglion cells were positive for synaptophysin [Figure 2]. Histopathologic diagnosis was dysplastic gangliocytoma of the cerebellum. Considering the presence of acral keratosis and multi-nodular goiter, this case satisfies the diagnostic criteria for Cowden disease.
Figure 2: (a) Low magnification of enlarged and distorted cerebellar folia [Luxol Fast Blue(LFB)×40]. (b and e) Normal layers of cerebellum[(b-H and e ×100, e-LFB ×100)Mol- molecular layer, P-pyramidal cell layer, Gr-granular layer, WM- white matter]. (c,d,f and g) Enlarged molecular and internal granular layer (starred) with dysplastic ganglion cells. Abnormally myelinated axon bundles in the outer molecular layer (black arrow heads)(c-h and e ×100,d-h and eX400, f-LFBX100,g-LFBX100). (h and i) dysplastic ganglion cells positive for synaptophysin (h ×100, i ×400)

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Interestingly, the patient's daughter who had dolichocephaly was evaluated with an MRI of the brain which was normal.

Cowden disease is an autosomal dominant disorder characterized by multiple hamartomas derived from all three germ layers. These patients also have an increased risk of malignant tumors most commonly of breast, thyroid and endometrium. [2] A large number of stigmata have been described occurring in various combinations. Adult onset  Lhermitte-Duclos disease More Details is a pathognomonic criterion. [3] Lhermitte-Duclos disease (LDD) is characterized by diffuse hypertrophy of the stratum granulosum of the cerebellum.The MRI findings and histopathology of the present case are classical of LDD. [1],[2] All individuals with adult-onset LDD, irrespective of other features, have mutations of PTEN which is the major susceptibility gene for Cowden disease. [2]


   Acknowledgments Top


We wish to acknowledge Dr. Anita Mahadevan, Assistant Professor, Dept of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India for helping with immunohistochemistry and photomicrography.

 
   References Top

1.Wolansky LJ, Malantic GP, Heary R, Maniker AH, Lee HJ, Sharer LR, et al. Preoperative MRI diagnosis of Lhermitte-Duclos disease: Case report with associated enlarged vessel and syrinx. Surg Neurol 1996;45:470-5.   Back to cited text no. 1
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2. Eberhart CG, Wiestler OD, Eng C. Cowden disease and dysplastic gangliocytoma of the cerebellum/Lhermitte Duclos disease In: Louis DN, Ohgaki H, Wiestler OD, Cavenee WK, editors. WHO classification of tumors of the Central Nervous System. 4 th ed. Lyon: IARC; 2007. p. 226-8.  Back to cited text no. 2
    
3.Pilarski R, Eng C. Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. J Med Genet 2004;41:323-6.  Back to cited text no. 3
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Correspondence Address:
Aparna Govindan
Department of Pathology, Medical College, Kozhikode - 673 008, Kerala
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0377-4929.94875

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    Figures

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