Dysplastic cerebellar gangliocytoma
Updates to Article Attributes
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.
Epidemiology
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
- polydactyly
- hydromyelia
- macroglossia
- localised gigantism
- leontiasis ossea
Clinical presentation
Symptoms are typically related to raised intracranial pressure, obstructive hydrocephalus and to a lesser degree cerebellar dysfunction 3.
Pathology
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.
Markers
Stains positive for synaptophysin.
Radiographic features
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.
CT
- may show a non specific hypo attenuating cerebellar mass
MRI
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
-
T1 C+
- enhancement is rare
- if present usually superficial, possibly due to vascular proliferation 4
-
MR spectroscopy:
- 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
PET/SPECT
- 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.
Differential diagnosis
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.
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