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Dermoscopy Aids in the Diagnosis of Discoid Lupus Erythematosus

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Lhermitte-Duclos Disease: A Case Series.

Gonzalo Monjarás-Romo¹, Lilian Zavala-Romero¹, Maria Fernanda Tejada-Pineda¹

¹Radiosurgery Department, National Institute of Neurology and Neurosurgery "Manuel Velasco Suárez", Mexico, MEX.

|October 2, 2023

Summary

Lhermitte-Duclos disease (LDD) is a rare cerebellar tumor linked to PTEN gene mutations. This study highlights its clinical, radiological, and histopathological features, emphasizing genetic monitoring due to cancer risks.

Keywords:

cowden syndrome dysplastic cerebellar gangliocytoma lhermitte-duclos disease neurosurgery posterior fossa

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Area of Science:

Neuro-oncology
Genetics
Neuropathology

Background:

Lhermitte-Duclos disease (LDD), also known as dysplastic cerebellar gangliocytoma, is a rare tumor causing unilateral cerebellar expansion.
LDD is associated with PTEN gene mutations, affecting cell growth and neuronal migration via the PI3K pathway.

Observation:

This study reviewed three LDD cases, analyzing clinical, radiological, and histopathological data.
Patients presented with cerebellar abnormalities, headaches, and visual issues. MRI showed characteristic hyperintense parallel streaks.
Histopathology revealed altered cerebellar layers, degenerated Purkinje cells, and specific protein markers.

Findings:

Surgical goals included partial resection and managing intracranial pressure.
All patients underwent genetic follow-up.
The study compared diverse LDD characteristics across reported cases.

Implications:

Neurosurgeons require awareness of LDD's association with Cowden syndrome.
Close genetic monitoring is crucial due to potential risks of other cancers.
Despite its benign nature, LDD necessitates vigilant follow-up and genetic surveillance.