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

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)

(Left) 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). (Right) 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.

(Left) 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. (Right) 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.

Brain: Pathology-Based Diagnoses: Malformations,

Trauma, and Stroke

30