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  • Medulloblastoma Masquerading as Bilateral Lhermitte-Duclos Disease

    Final Number:

    Rahul Surendra Shah BSc, MBChB, MRCS; Jason Yuen MSci, MA, BMBCh, MRCS; Puneet Plaha FRCS, MS

    Study Design:

    Subject Category:

    Meeting: Congress of Neurological Surgeons 2015 Annual Meeting

    Introduction: Lhermitte duclos disease (LDD; dysplastic cerebellar gangliocytoma) is a rare beingn cerebellar tumour with thickened cerebellar folia giving a striated (‘tiger-striped’) appearance on MRI previously thought to be pathognomonic. Approximately a quarter of cases are associated with autosomal dominant Cowden syndrome of multiple hamartoma-neoplasia. In a few published cases, these characteristic findings have been mimicked by a more agressive tumour, medulloblastoma (WHO grade IV).

    Methods: We present a case where a 53 year old patient refused biopsy and was kept under imaging surveillance for 2 years (with interval VP shunt insertion), and reimaging at the time of clinical deterioration demonstrated severe diffuse posterior fossa swelling and a new area of focal enhancement. Biopsy of this enhancing lesion delivered a discrete tumour nodule which was found to be medulloblastoma on histology. Subsequent imaging showed markedly reduced swelling in the entire posterior fossa (Figure 1). We performed a review of the literature identifying similar cases and their clinical/imaging profile.

    Results: Six patients (Table 1) were identified in the literature (age 18 months to 28 yrs; 3 cases were bilateral) with imaging findings consistent with LDD but subsequent histology confirming WHO grade IV medulloblastoma. MR Spectroscopy was identified as critical in excluding LDD in 4 cases.

    Conclusions: In the context of patients with MRI features consistent with LDD, a low threshold for biopsy or surgical resection should be adopted include bilateral disease, negative genetic screen for Cowden syndrome or non-diagnostic/equivocal MR spectroscopy result.

    Patient Care: By facilitating decision-making around timing of MR imaging and biopsy in this uncommon scenario.

    Learning Objectives: By the conclusion of this session, participants should be able to: 1) Understand Lhermitte-Duclos disease and its association with Cowden syndrome 2) Describe the characteristic MRI/MR spectroscopy appearance of Lhermitte-Duclos 3) Consider the differential diagnosis of medulloblastoma in this context

    References: 1.Praharaj HN, Singh MK, Garg RK, Raut TP. Intracranial venous sinus thrombosis mimicking Lhermitte Duclos disease. BMJ Case Rep. 2012 Nov 11;2012. pii: bcr2012007058. doi: 10.1136/bcr-2012-007058. PubMed PMID: 23148398. 2. Johnston JM, Limbrick DD, Ray WZ, Brown S, Shimony J, Park TS. Isolated cerebellar Rosai-Dorfman granuloma mimicking Lhermitte-Duclos disease. Case report. J Neurosurg Pediatr. 2009 Aug;4(2):118-20. 3. Kamble RB, Mathew S, Rao RM. Infiltrating medulloblastoma in a child mimicking Lhermitte-Duclos disease. J Pediatr Neurosci. 2012 May;7(2):159-60. 4. Savardekar A, Salunke P, Ahuja CK, Rane S, Singla N. Unusual presentation in adult medulloblastomas: imaging features mimicking cerebellar dysplastic gangliocytoma (Lhermitte-Duclos disease). Neurol India. 2012 Sep-Oct;60(5):555-7. 5. Mittal P, Gupta K, Saggar K, Kaur S. Adult medulloblastoma mimicking Lhermitte-Duclos disease: can diffusion weighted imaging help? Neurol India. 2009 Mar-Apr;57(2):203-5. 6. Douglas-Akinwande AC, Payner TD, Hattab EM. Medulloblastoma mimicking Lhermitte-Duclos disease on MRI and CT. Clin Neurol Neurosurg. 2009 Jul;111(6):536-9. 7. Chen KS, Hung PC, Wang HS, Jung SM, Ng SH. Medulloblastoma or cerebellar dysplastic gangliocytoma (Lhermitte-Duclos disease)? Pediatr Neurol. 2002 Nov;27(5):404-6. 8. Bozbuga M, Gulec I, Suslu HT, Bayindir C. Bilateral Lhermitte-Duclos disease. Neurol India. 2010 Mar-Apr;58(2):309-11. doi: 10.4103/0028-3886.63799. PubMed PMID: 20508358 9. Puri AS, Garg A, Mishra NK, Gaikwad SB, Mehta VS, Cirillo S. Bilateral cerebellar dysplastic gangliocytomas (lhermitte duclos disease) with cerebellar ectopia and presyrinx cord changes. A case report. Neuroradiol J. 2007 Jan 31;19(6):717-21. 10. Shanley DJ, Vassallo CJ. Atypical presentation of Lhermitte-Duclos disease: preoperative diagnosis with MRI. Neuroradiology. 1992;34(2):103-4. PubMed PMID: 1603303.

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