Lhermitte duclos disease Radiology ll Dysplastic cerebellar gangliocytoma

1. LHERMITTE DUCLOS DISEASE
DR.SANTOSH ATREYA
PHASE-B RESIDENT
DEPARTMENT OF RADIOLOGY &
IMAGING

2. INTRODUCTION
• Lhermitte-Duclos disease, also known
as dysplastic cerebellar gangliocytoma, is a
rare tumour of the cerebellum.
• Characterized by progressive hypertrophy of
the cerebellar folia
• Though it may not be neoplastic, it is
considered a WHO grade I tumour in the
current WHO classification of CNS tumours

3. • The cerebellum consists
of foliae (folds)
composed of cortex and
white matter. The
photomicrograph shows
grey matter stains blue,
and the white matter is
pale staining. It shows the
layers forming the
cerebellar cortex

4. Microscopic appearance
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

5. EPIDEMIOLOGY
• Lhermitte-Duclos disease typically presents in
young adults, although it has been
encountered at all ages .
• Additional weight to Lhermitte-Duclos disease
being a manifestation of Cowden disease. In
such cases, it is termed COLD
syndrome (Cowden-Lhermitte-Duclos
syndrome) .

6. CLINICAL PRESENTATION
• 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 .

7. Classical 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 .

8. MRI
• Widened cerebellar folia with a
striated/tigroid appearance.
• T1: hypointense
• T2: hyperintense with
apparently preserved cortical
striations
• DWI: similar to normal cortex
• T1 C+
– enhancement is rare
– if present usually superficial,
possibly due to vascular
proliferation

9. CT SCAN
• may show a non-specific hypoattenuating
cerebellar mass
• calcification is sometimes seen

10. CASES
• 3 Weeks history
of headaches
• Age:38 years
• Gender:Female
A large, heterogeneous, non enhancing and non-calcified
right cerebellar mass compresses and distorts the fourth
ventricle with resultant dilatation of the third and lateral
ventricles .There is no appreciable contrast enhancement
following administration of contrast.

11. MRI confirms the abnormality.
The mass is striated and hyper
intense on T2 and Hypo
intense on T1, with no
restricted diffusion and no
contrast enhancement.

12. MR spectroscopy
• elevated lactate
• slightly reduced NAA (by about 10%)
• reduced myo-inositol (by 30-80%)
• reduced choline (by 20-50%)
• reduced cho/cr ratio

13. PET/SPECT
• FDG-PET: shows increased uptake
• Tl-201 SPECT: shows increased uptake

14. Treatment and prognosis
• The dysplastic mass grows very slowly,
• Treating hydrocephalus.
• Surgical resection is often curative
• Few case reports of recurrence .

15. • Crucial to remember
association with Cowden
syndrome, hence, increase in
risk of other neoplasms such
breast, endometrial and
thyroid cancers.
• Recommendation for further
imaging to rule out
assessment of possible
tumours in above locations
should be included in the
radiologist's report.

16. Differential diagnosis
• 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.

17. Take Home Messages
• Dysplastic cerebellar gangliocytoma
• Tigroid/Striated appearence
• One side of the cerebellum
• Associated with COWDEN SYNDROME
• Recommendation for further imaging to rule
out possible tumours in endometrium,breast
& thyroid in radiologist's report.

18. •THANK YOU !!