Lhermitte-Duclos disease

Lhermitte-Duclos disease, also known as dysplastic cerebellar gangliocytoma, is a rare tumour of the cerebellum. It is probably hamartomatous, although the exact pathogenesis remains unknown 2,6. Even though it may not be neoplastic, it is considered a WHO grade I tumour in the current WHO classification of CNS tumours 1-2,6.

Lhermitte-Duclos disease typically presents in young adults, although it has been encountered at all ages 3,6.  Interestingly the genetics of childhood-onset appears different to the more common adult onset form. 

In the adult form, PTEN mutations are invariably found, lending additional weight to Lhermitte-Duclos disease being a manifestation of Cowden disease. In such cases, it is termed COLD syndrome (Cowden-Lhermitte-Duclos syndrome) 7

In contrast, in children PTEN mutations are absent 6

A number of other associated conditions have also been described 1,3, including:

Small lesions may be asymptomatic or only present with relatively subtle cerebellar signs (e.g. dysmetria). When larger, symptoms are typically related to raised intracranial pressure, obstructive hydrocephalus and to a lesser degree, cerebellar dysfunction 3.

Macroscopic appearance

Dysplastic cerebellar gangliocytomas are usually single and unilateral, presenting as a discrete region of cerebellar hypertrophy 6

Microscopic appearance

Derangement of the normal laminar cellular organisation of cerebellum is present. There is thickening of the outer molecular cell layer, loss of the middle Purkinje cell layer, and infiltration of the inner granular cell layer with dysplastic ganglion cells of various sizes 6.

Immunophenotype

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 hypoattenuating cerebellar mass
  • calcification is sometimes seen 2,5
MRI

Widened cerebellar folia with a striated/tigroid appearance.

  • T1: hypointense 2
  • T2: hyperintense with apparently preserved cortical striations 1
  • DWI: similar to normal cortex
  • 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

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. Importantly it is crucial to remember association with Cowden syndrome, hence, increase in risk of other neoplasms such breast, endometrial and thyroid cancers. So, recommendation for further imaging or clinical assessment of possible tumours in these locations should be included in the radiologist's report.

It is named after Jacques Jean Lhermitte (1877-1959), a French neurologist and neuropsychiatrist, and P. Duclos who first described the condition in 1920 6

The appearance is very characteristic and usually little differential exists, particularly when appearances are typical.

In the setting of sepsis or acute deterioration, one should consider cerebellitis or subacute cerebellar infarction.

The appearance may be mimicked by extensively nodular medulloblastoma (SHH molecular subgroup). 

Malformations of the central nervous system
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Article information

rID: 1582
Section: Pathology
Synonyms or Alternate Spellings:
  • Dysplastic gangliocytoma of cerebellum
  • Dysplastic cerebellar gangliocytoma
  • Lhermitte-Duclos disease (LDD)
  • Dysplastic gangliocytoma of the cerebellum
  • Diffuse hypertrophy of the cerebellar cortex
  • Cerebellar granule cell hypertrophy

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