Lhermitte-Duclos disease

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:

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
  • 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

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. 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 radiologists report.

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.


Related articles

Malformations of the central nervous system

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