Dysplastic Cerebellar Gangliocytoma Free
- Also known as L'hermitte-Duclos disease (LDD), the neurologic manifestation of multiple hamartoma and neoplasia syndrome (MHAM) or Cowden syndrome (CS)
- CS + LDD = MHAM + LDD = COLD (Cowden-L'hermitte-Duclos syndrome), a neurocutaneous syndrome
- Benign cerebellar lesion of uncertain etiology
- Benign cerebellar mass with thickened, irregular cerebellar folia
- Pathogenesis unclear: hamartomatous, neoplastic, or congenital
- WHO grade 1
- No malignant potential
- Autosomal dominant inheritance of PTEN mutation
- Hamartomas of skin, gastrointestinal and genitourinary tracts, mucosa, eye, and central nervous system
- Increased risk of mucocutaneous tumors, thyroid adenomas, fibrocystic breast disease, and polyps
- Absence of cerebellar Purkinje cells, abnormal ganglion cells, and hypertrophic granule cell layer are microscopic features
- Any age (20–40 years old at presentation most common)
- No gender predilection
- Common presenting signs/symptoms
- Increased intracranial pressure: headache, nausea, vomiting
- Cerebellar signs: ataxia, dysmetria, gait instability
- ±Clinical findings of MHAM/CS
- Treatment: surgical debulking ± CSF shunting
- “Corduroy,” striated, or tigroid appearance of cerebellar hemisphere due to thickened, irregular folia
- Most commonly unilateral cerebellar hemisphere involvement ± vermis
- Variable size
- Mass effect, tonsillar herniation, and hydrocephalus if large
- Stable size or slow growth
- Isodense to hyperdense lesion with thickened, irregular, and tigroid cerebellar folia
- Variable enhancement on contrast-enhanced CT
- T1WI: hypointense to isointense
- T2WI: hyperintense with hypointense to isointense cerebellar folia; hypointense vascular flow voids
- DWI: hyperintense signal, which may represent “T2-shinethrough,” hypercellularity, or increased density of axons
- T1WI+C: variable enhancement
- MRS/MR perfusion: decreased NAA, Cho, and MI; increased relative cerebral blood volume (rCBV) and relative cerebral blood flow (rCBF) may be present
- MRI without and with intravenous contrast including DWI and MR spectroscopy; evaluate for MHAM/CS if findings of LDD are present (and vice versa) due to increased risk of other malignancy
For more information, please see the corresponding chapter in Radiopaedia.
Contributor: Rachel Seltman, MD
Abel TW, Baker SJ, Fraser MM, et al. Lhermitte-Duclos disease: a report of 31 cases with immunohistochemical analysis of the PTEN/AKT/mTOR pathway. J Neuropathol Exp Neurol 2005;64:341–349. doi.org/10.1093/jnen/64.4.341.
Awwad EE, Levy E, Martin DS, et al. Atypical MR appearance of Lhermitte-Duclos disease with contrast enhancement. AJNR Am J Neuroradiol 1995;16:1719–1720.
Cianfoni A, Wintermark M, Piludu F, et al. Morphological and functional MR imaging of Lhermitte-Duclos disease with pathology correlate. J Neuroradiol 2008;35:297–300. doi.org/10.1016/j.neurad.2008.05.002.
Klisch J, Juengling F, Spreer J, et al. Lhermitte-Duclos disease: assessment with MR imaging, positron emission tomography, single-photon emission CT, and MR spectroscopy. AJNR Am J Neuroradiol 2001;22:824–830.
Murata J, Tada M, Sawamura Y, et al. Dysplastic gangliocytoma (Lhermitte-Duclos disease) associated with Cowden disease: report of a case and review of the literature for the genetic relationship between the two diseases. J Neurooncol 1999;41:129–136. doi.org/10.1023/a:1006167421100.
Osborn AG, Salzman K L, Jhaveri MD. Diagnostic Imaging (3rd ed). Elsevier, Philadelphia, PA; 2016.
Robinson S, Cohen AR. Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis. Neurosurgery 2000;46:371–383. doi.org/10.1097/00006123-200002000-00021.
Thomas B, Krishnamoorthy T, Radhakrishnan VV, et al. Advanced MR imaging in Lhermitte-Duclos disease: moving closer to pathology and pathophysiology. Neuroradiology 2007;49:733–738. doi.org/10.1007/s00234-007-0241-1.
Wei G, Liu S, Wu Y, et al. Teaching NeuroImages: MRI appearances of Lhermitte-Duclos disease. Neurology 2013;80:e67–e68. doi.org/10.1212/WNL.0b013e3182815454.
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