Lhermitte–Duclos disease

ORPHA: 65285

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

rare neoformation of the cerebellum due to a mutation in the PTEN-Gen

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with Lhermitte–Duclos disease, sourced from HPO and Orphanet clinical annotations.

MacroglossiaHydrocephalusMacrocephalyHand polydactylySeizureAtaxiaNausea and vomitingPolymicrogyriaHeadacheIncreased intracranial pressureCranial nerve paralysisEnlarged cerebellumPapuleFibroadenoma of the breastTrichilemmomaNeoplasm of the thyroid glandOvarian neoplasmAcrokeratosis

Classification & Codes

Orphanet Code

ORPHA:65285

Lhermitte–Duclos disease

Orphanet	`ORPHA:65285`
Treatments	0 drug(s)
Symptoms on record	18 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO