Lhermitte-Duclos disease

Findings

There is a small amount of increased signal on FLAIR and T2-weighted images with mild post contrast enhancement in the right cerebellar hemisphere. No mass effect is seen. Contrast images show an incidentally noted venous developmental anomaly on the right draining into the sylvian vein.

Differential diagnosis for the cerebellar lesion:
- Low-grade glioma
- Medulloblastoma
- Pilocytic astrocytoma
- Ganglioglioma
- Lhermitte-Duclos disease
- Cerebellar stroke


Diagnosis: Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum)


Key points

Lhermitte-Duclos disease (LDD) is a very rare benign cerebellar mass
Often associated with Cowden Syndrome–macrocephaly; benign breast, skin, and thyroid lesions; oral papillomas; GI tract hamartomas/polyps; cataracts; genitourinary neoplasia
Lesions grow very slowly or not at all
May cause obstructive hydrocephalus–presentation is usually vague neurologic symptoms related to hydrocephalus
Most commonly present at age 30-40, but can present from birth to age 60
Treatment–surgery for symptomatic patients
Rare recurrence, although complete resection is almost never possible
If confirmed LDD, no followup is needed unless patient is symptomatic

Radiologic appearance
- Well-defined cerebellar mass with striated or "gyriform" appearance
- CT–hypo dense cerebellar mass with hyper dense striations, rare enhancement
- MR
Striated mass with increased T2 and FLAIR signal +/- contrast enhancement
Bright on diffusion weighted images without signal decrease on ADC
MR Spectroscopy–decreased NAA, increased lactate, increased or normal choline
May use MRS to confirm LDD over glioma