Lhermitte-Duclos disease (LDD), also known as dysplastic cerebellar gangliocytoma, is a rare tumour of cerebellum. It is probably hamartomatous, although the exact pathogenesis remains unknown 2. It is considered a WHO grade I tumour 1-2.
Lhermitte-Duclos disease typically presents in young adults 3. A number of associated conditions have been described 1,3, including:
- Cowden disease: then termed Lhermitte-Duclos-Cowden syndrome or COLD syndrome
- disorders of cortical formation
- localised gigantism
- leontiasis ossea
Symptoms are typically related to raised intracranial pressure, obstructive hydrocephalus and to a lesser degree cerebellar dysfunction 3.
Results from derangement of normal laminar cellular organization of cerebellum. There is thickening of outer molecular cell layer, loss of middle Purkinje cell layer, and infiltration of inner granular cell layer with dysplastic ganglion cells.
Stains positive for synaptophysin.
The abnormal tissue involves the cerebellar cortex, and is usually confined to one hemisphere, occasionally extending to the vermis but only rarely extending to the contralateral hemisphere 1.
- may show a non specific hypo attenuating cerebellar mass
Widened cerebellar folia with a striated/tigroid appearance.
- T1: hypointense with no enhancement 2
- T2: hyperintense with apparently preserved cortical striations 1
DWI: similar to normal cortex
- may show hyperintensity due to T2 shine through effect
- enhancement is rare
- if present usually superficial, possibly due to vascular proliferation 4
- elevated lactate 1,2
- slightly reduced NAA (by about 10%) 1,2
- reduced myo-inositol (by 30-80%)
- reduced choline (by 20-50%)
- reduced cho/cr ratio 2
- FDG-PET: shows increased uptake
- Tl-201 SPECT: shows increased uptake
Treatment and prognosis
The dysplastic mass grows very slowly, and initial treatment revolves around treating hydrocephalus. Surgical resection is often curative, with only a few case reports of recurrence 3.
History and etymology
It is named after Jacques Jean Lhermitte (1877-1959), a French neurologist and neuropsychiatrist, and P. Duclos.
Although the appearance is very characteristic and usually little differential exists (when appearances are typical), in the setting of sepsis or acute deterioration one should consider cerebellitis.
- 1. Barkovich AJ. Pediatric neuroimaging. Lippincott Williams & Wilkins. (2005) ISBN:0781757665. Read it at Google Books - Find it at Amazon
- 2. 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 (5): 824-30. AJNR Am J Neuroradiol (full text) - Pubmed citation
- 3. Kulkantrakorn K, Awwad EE, Levy B et-al. MRI in Lhermitte-Duclos disease. Neurology. 1997;48 (3): 725-31. Neurology (full text) - Pubmed citation
- 4. Awwad EE, Levy E, Martin DS et-al. Atypical MR appearance of Lhermitte-Duclos disease with contrast enhancement. AJNR Am J Neuroradiol. 1995;16 (8): 1719-20. AJNR Am J Neuroradiol (abstract) - Pubmed citation
Synonyms & Alternative Spellings
|Synonyms or Alternative Spelling||Include in Listings?|
|Dysplastic gangliocytoma of cerebellum||✗|
|Dysplastic cerebellar gangliocytoma||✓|
|Lhermitte-Duclos disease (LDD)||✗|
|Dysplastic gangliocytoma of the cerebellum||✗|