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Lhermitte-Duclos Disease


KEY FACTS

Terminology

  • Lhermitte-Duclos disease (LDD)

    • Benign cerebellar lesion; unclear if neoplastic, malformative, or hamartomatous

  • Multiple hamartoma syndrome (MHAM) → autosomal dominant, mutation in PTEN gene, associated with increased incidence of malignancy

    • MHAM = Cowden syndrome (CS); Cowden plus Lhermitte-Duclos = MHAM with LDD

      • –

        CS is most common phenotype of PTEN hamartoma tumor syndrome

    • LDD now considered manifestation of MHAM and neurocutaneous syndrome

Imaging

  • Relatively well-defined cerebellar mass with striated/corduroy/tigroid/gyriform pattern

  • LDD always in cerebellum and may be large → mass effect, tonsillar herniation, hydrocephalus

Top Differential Diagnoses

  • Subacute cerebellar infarction

  • Cerebellitis

  • Unclassified cerebellar dysplasias

  • Ganglioglioma

  • Medulloblastoma

  • Meningeal metastases

  • Meningeal granulomatous disease

Clinical Issues

  • Most common presentation: Headache, nausea and vomiting, ataxia, blurred vision

    • Can present in coma

  • Shunting or surgical debulking for symptomatic patients with hydrocephalus

Diagnostic Checklist

  • If LDD, screen for MHAM; if MHAM, screen for LDD

  • Long-term cancer screening needed, especially thyroid and breast (↑ malignancy in MHAM)

Axial graphic shows thickened and irregular cerebellar folia in the right cerebellar hemisphere. This results in the enlargement of the hemisphere & mass effect upon the brainstem that are typical of Lhermitte-Duclos disease (LDD).

Axial T2WI in a 76-year-old man with nonspecific headaches shows a hyperintense right cerebellar hemispheric mass. The widened “gyriform” folia
give the mass a distinctive striated appearance. Several dot-like flow voids
are present in between the enlarged folia.

Axial T1 C+ FS in the same patient shows that the thickened folia do not enhance, but the prominent flow voids seen on the T2WI show strong, uniform enhancement
, suggesting that they are vascular structures.

Coronal T1 C+ scan in the same case shows the enhancing vessels
nicely. The findings were pathognomonic of LDD, so the mass was not biopsied.

TERMINOLOGY

Synonyms

  • Lhermitte-Duclos disease (LDD)

    • Dysplastic cerebellar gangliocytoma, gangliocytoma dysplasticum, hamartoma of cerebellum

    • Hamartoblastoma, cerebelloparenchymal disorder 6, granule cell hypertrophy, granular cell hypertrophy, granulomolecular hypertrophy

    • Diffuse ganglioneuroma of cerebellar cortex, diffuse cerebellar hypertrophy, neurocytic blastoma, myelinated neurocytoma, purkingeoma

  • Multiple hamartoma syndrome (MHAM)

    • Multiple hamartoma-neoplasia syndrome, Cowden disease, Cowden syndrome (CS), Cowden-Lhermitte-Duclos syndrome (COLD)

Definitions

  • Lhermitte-Duclos disease → neurological manifestation of MHAM

    • Benign cerebellar lesion but unclear if neoplastic, malformative, or hamartomatous

    • Association between LDD and MHAM probably represents new neurocutaneous syndrome

  • Multiple hamartoma syndrome

    • Autosomal dominant, variable expression, typically mutation in PTEN gene

    • Hamartomatous neoplasms of skin (90-100%), mucosa, GI tract, bones, CNS, eyes, and GU tract

    • Associated with increased incidence of malignancy

IMAGING

General Features

  • Best diagnostic clue

    • Grossly thickened cerebellar folia with striated (tigroid) gyriform pattern

  • Location

    • Always in cerebellum, usually unilateral

    • Often involves vermis, rarely brainstem

  • Size

    • Size variable, may be large → mass effect, tonsillar herniation, hydrocephalus

  • Morphology

    • Infiltrative but well demarcated

Radiographic Findings

  • ± thinning of skull

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